Uta Francke

Clinical Focus

• Clinical Genetics
• Neurogenetics

Honors and Awards

• Elected Member, Institute of Medicine (National Academies) (1990)
• Elected Fellow, American Association for the Advancement of Science (1995)
• Elected Member, American Academy of Arts and Sciences (1997)
• Elected President, American Society of Human Genetics (1999)
• Colonel Harland Sanders Lifetime Achievement Award in Genetics, March of Dimes Birth Defects Foundation (2001)
• President, International Federation of Human Genetics Societies (2000-2002)
• Antoine Marfan Award, National Marfan Foundation (1996)
• Original Member, Highly Cited Researchers database, ISI (2002)

Professional Education

• Board Certification: Clinical Molecular Genetics, American Board of Medical Genetics (1993)
• Board Certification: Clinical Genetics, American Board of Medical Genetics (1982)
• Board Certification: Clinical Cytogenetics, American Board of Medical Genetics (1982)
• Board Certification: General Pediatrics, American Board of Pediatrics (1981)
• UCLA Medical Center (1971) CA
• Children's Hospital of Los Angeles (1970) CA
• Klinikum Rechts Der Isar (1969) Germany
• University of Munchen (1967) Germany
• M.D. (Dr. med.), Universitaet Munchen, Germany Medicine (1967)

Graduate & Fellowship Program Affiliations

• Genetics

Industry Relationships

Stanford is committed to ethical and transparent interactions with our industry partners. It is our policy to disclose payments of $5,000 or more, equity valued at $5,000 or more in a publicly traded company, or any equity in a privately held company, to physicians and scientists employed by Stanford University from companies or other commercial entities with which they interact as part of their professional activities. 

• Consulting: 23andMe

Research Interests

To understand the functional consequences of microdeletions that cause defined clinical syndromes, the laboratory has created mouse models for Williams-Beuren syndrome and Prader-Willi syndrome (PWS). The PWS mice are deleted for an imprinted cluster of C/D box small nucleolar RNA (snoRNA) genes. Current goals are to identify the function of these snoRNAs and to understand how their loss causes the PWS phenotype.

Publications

• Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Faivre L,  Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.  Pediatrics.  2009; 123 (1): 391-8
• Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. Belichenko PV,  Wright EE, Belichenko NP, Masliah E, Li HH, Mobley WC, Francke U.  J Comp Neurol.  2009; 514 (3): 240-58
• Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Faivre L,  Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.  Am J Med Genet A.  2009; 149A (5): 854-60
• Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Faivre L,  Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.  Eur J Hum Genet.  2009; 17 (4): 491-501
• Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice Li HH,  Roy M, Kuscuoglu U, Spencer CM, Halm B, Harrison KC, Bayle JH, Splendore A, Ding F, Meltzer LA, Wright E, Paylor R, Deisseroth K, Francke U.  EMBO Molecular Medicine.  2009; 1 (1): 50-65
• Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome. Belichenko NP,  Belichenko PV, Li HH, Mobley WC, Francke U.  J Comp Neurol.  2008; 508 (1): 184-95
• Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Faivre L,  Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.  J Med Genet.  2008; 45 (6): 384-90
• SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. Ding F,  Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.  PLoS One.  2008; 3 (3): e1709
• Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Schüle B,  Armstrong DD, Vogel H, Oviedo A, Francke U.  Clin Genet.  2008; 74 (2): 116-26
• Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. Jordan C,  Li HH, Kwan HC, Francke U.  BMC Med Genet.  2007; 8 36
• A Marfan syndrome gene expression phenotype in cultured skin fibroblasts. Yao Z,  Jaeger JC, Ruzzo WL, Morale CZ, Emond M, Francke U, Milewicz DM, Schwartz SM, Mulvihill ER.  BMC Genomics.  2007; 8 319
• Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Faivre L,  Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.  Am J Hum Genet.  2007; 81 (3): 454-66
• DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Schüle B,  Li HH, Fisch-Kohl C, Purmann C, Francke U.  Am J Hum Genet.  2007; 81 (3): 492-506
• An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Edelmann L,  Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.  J Med Genet.  2007; 44 (2): 136-43
• Ube3a expression is not altered in Mecp2 mutant mice. Jordan C,  Francke U.  Hum Mol Genet.  2006; 15 (14): 2210-5
• Mechanisms of disease: neurogenetics of MeCP2 deficiency. Francke U,  Nat Clin Pract Neurol.  2006; 2 (4): 212-21
• Identification of cis-regulatory elements for MECP2 expression. Liu J,  Francke U.  Hum Mol Genet.  2006; 15 (11): 1769-82
• NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Arron JR,  Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR.  Nature.  2006; 441 (7093): 595-600
• Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Ding F,  Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U.  Mamm Genome.  2005; 16 (6): 424-31
• Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Schüle B,  Oviedo A, Johnston K, Pai S, Francke U.  Am J Hum Genet.  2005; 77 (6): 1117-28
• Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. Schüle B,  Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U.  BMC Med Genet.  2005; 6 18
• Frizzled 9 knock-out mice have abnormal B-cell development. Ranheim EA,  Kwan HC, Reya T, Wang YK, Weissman IL, Francke U.  Blood.  2005; 105 (6): 2487-94
• Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins. Gartler SM,  Varadarajan KR, Luo P, Canfield TK, Traynor J, Francke U, Hansen RS.  BMC Biol.  2004; 2 21
• Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. Traynor J,  Agarwal P, Lazzeroni L, Francke U.  BMC Med Genet.  2002; 3 12
• Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Gallagher RC,  Pils B, Albalwi M, Francke U.  Am J Hum Genet.  2002; 71 (3): 669-78
• Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Schrijver I,  Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.  Am J Hum Genet.  2002; 71 (2): 223-37
• Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. Schrijver I,  Schievink WI, Godfrey M, Meyer FB, Francke U.  J Neurosurg.  2002; 96 (3): 483-9
• Human genetics around the world. Francke U,  Genet Med.  2001 May-Jun; 3 (3): 167
• Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region. Fulmer-Smentek SB,  Francke U.  Hum Mol Genet.  2001; 10 (6): 645-52
• frizzled 9 is expressed in neural precursor cells in the developing neural tube. Van Raay TJ,  Wang YK, Stark MR, Rasmussen JT, Francke U, Vetter ML, Rao MS.  Dev Genes Evol.  2001; 211 (8-9): 453-7
• Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. Kaplan P,  Wang PP, Francke U.  J Child Neurol.  2001; 16 (3): 177-90
• Guidelines for reporting clinical features in cases with MECP2 mutations. Kerr AM,  Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M.  Brain Dev.  2001; 23 (4): 208-11
• MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Wan M,  Zhao K, Lee SS, Francke U.  Hum Mol Genet.  2001; 10 (10): 1085-92
• The human genome project: implications for the endocrinologist. Francke U,  J Pediatr Endocrinol Metab.  2001; 14 Suppl 6 1395-408
• Spectrum of MECP2 mutations in Rett syndrome. Lee SS,  Wan M, Francke U.  Brain Dev.  2001; 23 Suppl 1 S138-43
• Multi-exon deletions of the FBN1 gene in Marfan syndrome. Liu W,  Schrijver I, Brenn T, Furthmayr H, Francke U.  BMC Med Genet.  2001; 2 11
• Evolutionary relationships among Rel domains indicate functional diversification by recombination. Graef IA,  Gastier JM, Francke U, Crabtree GR.  Proc Natl Acad Sci U S A.  2001; 98 (10): 5740-5
• Discovery of the Rett syndrome gene and its function. Francke U,  Turk J Pediatr.  2000 Oct-Dec; 42 (4): 271
• A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. Peoples R,  Franke Y, Wang YK, Pérez-Jurado L, Paperna T, Cisco M, Francke U.  Am J Hum Genet.  2000; 66 (1): 47-68
• Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome. Gastier JM,  Berg MA, Vesterhus P, Reiter EO, Francke U.  Hum Mutat.  2000; 16 (4): 323-33
• Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. de los Santos T,  Schweizer J, Rees CA, Francke U.  Am J Hum Genet.  2000; 67 (5): 1067-82
• Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins. Huang MM,  Tsuboi S, Wong A, Yu XJ, Oh-Eda M, Derry JM, Francke U, Fukuda M, Weinberg KI, Kohn DB.  Gene Ther.  2000; 7 (4): 314-20
• Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Ferguson PJ,  Blanton SH, Saulsbury FT, McDuffie MJ, Lemahieu V, Gastier JM, Francke U, Borowitz SM, Sutphen JL, Kelly TE.  Am J Med Genet.  2000; 90 (5): 390-7
• Growth hormone receptor deficiency in Ecuador. Rosenbloom AL,  Guevara-Aguirre J, Rosenfeld RG, Francke U.  J Clin Endocrinol Metab.  1999; 84 (12): 4436-43
• TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Pérez Jurado LA,  Wang YK, Francke U, Cruces J.  Cytogenet Cell Genet.  1999; 86 (3-4): 277-84
• Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Amir RE,  Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.  Nat Genet.  1999; 23 (2): 185-8
• Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Wan M,  Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.  Am J Hum Genet.  1999; 65 (6): 1520-9
• Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. Franke Y,  Peoples RJ, Francke U.  Cytogenet Cell Genet.  1999; 86 (3-4): 296-304
• Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Schrijver I,  Liu W, Brenn T, Furthmayr H, Francke U.  Am J Hum Genet.  1999; 65 (4): 1007-20
• In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit. Schweizer J,  Zynger D, Francke U.  Hum Mol Genet.  1999; 8 (4): 555-66
• Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Lemahieu V,  Gastier JM, Francke U.  Hum Mutat.  1999; 14 (1): 54-66
• The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. Ring HZ,  Chang H, Guilbot A, Brice A, LeGuern E, Francke U.  Hum Genet.  1999; 104 (4): 326-32
• Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. Wang YK,  Spörle R, Paperna T, Schughart K, Francke U.  Genomics.  1999; 57 (2): 235-48
• The mouse Fubp gene maps near the distal end of chromosome 3. Ring HZ,  Vameghi-Meyers V, Min H, Nikolic JM, Black DL, Francke U.  Genomics.  1999; 56 (3): 357-8
• Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17. Ring HZ,  Vameghi-Meyers V, Nikolic JM, Min H, Black DL, Francke U.  Genomics.  1999; 56 (3): 350-2
• Williams-Beuren syndrome: genes and mechanisms. Francke U,  Hum Mol Genet.  1999; 8 (10): 1947-54
• Clinical objectives in medical genetics for undergraduate medical students. Association of Professors of Human Genetics, Clinical Objectives Task Force. Friedman JM,  Blitzer M, Elsas LJ, Francke U, Willard HF.  Genet Med.  1998 Nov-Dec; 1 (1): 54-5
• Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. Wojcik J,  Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J.  J Clin Endocrinol Metab.  1998; 83 (12): 4481-9
• A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Babcock D,  Gasner C, Francke U, Maslen C.  Hum Genet.  1998; 103 (1): 22-8
• Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. Rosenbloom AL,  Guevara-Aguirre J, Berg MA, Francke U.  J Clin Endocrinol Metab.  1998; 83 (7): 2373-5
• A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Schanen C,  Francke U.  Am J Hum Genet.  1998; 63 (1): 267-9
• Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. Burwinkel B,  Miglierini G, Jenne DE, Gilbert DJ, Copeland NG, Jenkins NA, Ring HZ, Francke U, Kilimann MW.  Genomics.  1998; 49 (3): 462-6
• Imprinted genes in the Prader-Willi deletion. Francke U,  Novartis Found Symp.  1998; 214 264-75; discussion 275-9
• A mouse model for Prader-Willi syndrome imprinting-centre mutations. Yang T,  Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI.  Nat Genet.  1998; 19 (1): 25-31
• Marfan Database (third edition): new mutations and new routines for the software. Collod-Béroud G,  Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C.  Nucleic Acids Res.  1998; 26 (1): 229-3
• Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Paperna T,  Peoples R, Wang YK, Kaplan P, Francke U.  Genomics.  1998; 54 (3): 453-9
• Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation. Wan M,  Cravatt BF, Ring HZ, Zhang X, Francke U.  Genomics.  1998; 54 (3): 408-14
• Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Peoples RJ,  Cisco MJ, Kaplan P, Francke U.  Cytogenet Cell Genet.  1998; 82 (3-4): 238-46
• Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome. Ring HZ,  Vameghi-Meyers V, Wang W, Crabtree GR, Francke U.  Genomics.  1998; 51 (1): 140-3
• Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. Heidary G,  Hampton LL, Schanen NC, Rivkin MJ, Darras BT, Battey J, Francke U.  Am J Med Genet.  1998; 78 (2): 173-5
• Evaluation of two X chromosomal candidate genes for Rett syndrome: glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDI1). Wan M,  Francke U.  Am J Med Genet.  1998; 78 (2): 169-72
• p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Hwang BJ,  Toering S, Francke U, Chu G.  Mol Cell Biol.  1998; 18 (7): 4391-9
• Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Hitoshi Y,  Lorens J, Kitada SI, Fisher J, LaBarge M, Ring HZ, Francke U, Reed JC, Kinoshita S, Nolan GP.  Immunity.  1998; 8 (4): 461-71
• A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Pérez Jurado LA,  Wang YK, Peoples R, Coloma A, Cruces J, Francke U.  Hum Mol Genet.  1998; 7 (3): 325-34
• A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Wang YK,  Pérez-Jurado LA, Francke U.  Genomics.  1998; 48 (2): 163-70
• Retraction. The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Li L,  Francke U, Cohen SN.  Cell.  1998; 93 (4): following 660
• Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Liu WO,  Oefner PJ, Qian C, Odom RS, Francke U.  Genet Test.  1997-1998; 1 (4): 237-42
• Molecular diagnosis and endocrine evaluation of a patient with a homozygous 7.0 kb deletion of the growth hormone (GH) gene cluster: response to biosynthetic GH therapy. Pérez Jurado LA,  Argente J, Barrios V, Pozo J, Muñoz MT, Hernández M, Francke U.  J Pediatr Endocrinol Metab.  1997 Mar-Apr; 10 (2): 185-90
• Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Liu W,  Qian C, Francke U.  Nat Genet.  1997; 16 (4): 328-9
• Molecular cloning, mapping to human chromosome 1 q21-q23, and cell binding characteristics of Spalpha, a new member of the scavenger receptor cysteine-rich (SRCR) family of proteins. Gebe JA,  Kiener PA, Ring HZ, Li X, Francke U, Aruffo A.  J Biol Chem.  1997; 272 (10): 6151-8
• Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Zhou YD,  Barnard M, Tian H, Li X, Ring HZ, Francke U, Shelton J, Richardson J, Russell DW, McKnight SL.  Proc Natl Acad Sci U S A.  1997; 94 (2): 713-8
• Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Carmeci C,  Thompson DA, Ring HZ, Francke U, Weigel RJ.  Genomics.  1997; 45 (3): 607-17
• A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Schanen NC,  Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U.  Am J Hum Genet.  1997; 61 (3): 634-41
• Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights. Furthmayr H,  Francke U.  Semin Thorac Cardiovasc Surg.  1997; 9 (3): 191-205
• Is Rett syndrome caused by a triplet repeat expansion? Hofferbert S,  Schanen NC, Budden SS, Francke U.  Neuropediatrics.  1997; 28 (3): 179-83
• The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Schrijver I,  Liu W, Francke U.  Hum Genet.  1997; 99 (5): 607-11
• The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome. Liu W,  Faraco J, Qian C, Francke U.  Hum Genet.  1997; 99 (5): 578-84
• A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23. Wang YK,  Samos CH, Peoples R, Pérez-Jurado LA, Nusse R, Francke U.  Hum Mol Genet.  1997; 6 (3): 465-72
• Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft). Shang J,  Li X, Ring HZ, Clayton DA, Francke U.  Genomics.  1997; 40 (1): 108-13
• An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene. Wevrick R,  Francke U.  Hum Mol Genet.  1997; 6 (2): 325-32
• The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Li L,  Li X, Francke U, Cohen SN.  Cell.  1997; 88 (1): 143-54
• Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method. Hofferbert S,  Schanen NC, Chehab F, Francke U.  Hum Mol Genet.  1997; 6 (1): 77-83
• Mouse latent TGF-beta binding protein-2: molecular cloning and developmental expression. Fang J,  Li X, Smiley E, Francke U, Mecham RP, Bonadio J.  Biochim Biophys Acta.  1997; 1354 (3): 219-30
• Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23. Wedemeyer N,  Peoples R, Himmelbauer H, Lehrach H, Francke U, Wanker EE.  Genomics.  1997; 46 (2): 313-5
• Structural, functional analysis and localization of the human CAP18 gene. Larrick JW,  Lee J, Ma S, Li X, Francke U, Wright SC, Balint RF.  FEBS Lett.  1996; 398 (1): 74-80
• Molecular cloning, chromosomal mapping, and characterization of the mouse UDP-galactose:ceramide galactosyltransferase gene. Coetzee T,  Li X, Fujita N, Marcus J, Suzuki K, Francke U, Popko B.  Genomics.  1996; 35 (1): 215-22
• The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Peoples R,  Perez-Jurado L, Wang YK, Kaplan P, Francke U.  Am J Hum Genet.  1996; 58 (6): 1370-3
• Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Symons M,  Derry JM, Karlak B, Jiang S, Lemahieu V, Mccormick F, Francke U, Abo A.  Cell.  1996; 84 (5): 723-34
• Rapid evolution of human pseudoautosomal genes and their mouse homologs. Ellison JW,  Li X, Francke U, Shapiro LJ.  Mamm Genome.  1996; 7 (1): 25-30
• The three genes of the human FCGR1 gene family encoding Fc gamma RI flank the centromere of chromosome 1 at 1p12 and 1q21. Maresco DL,  Chang E, Theil KS, Francke U, Anderson CL.  Cytogenet Cell Genet.  1996; 73 (3): 157-63
• The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome. Wevrick R,  Kerns JA, Francke U.  Acta Genet Med Gemellol (Roma).  1996; 45 (1-2): 191-7
• High-density radiation hybrid map of human chromosome 18 and contig of 18p. Giacalone J,  Li X, Lehrach H, Francke U.  Genomics.  1996; 37 (1): 9-18
• Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Liu W,  Qian C, Comeau K, Brenn T, Furthmayr H, Francke U.  Hum Mol Genet.  1996; 5 (10): 1581-7
• Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Pérez Jurado LA,  Peoples R, Kaplan P, Hamel BC, Francke U.  Am J Hum Genet.  1996; 59 (4): 781-92
• Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome. Brenn T,  Aoyama T, Francke U, Furthmayr H.  Lab Invest.  1996; 75 (3): 389-402
• Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Schanen NC,  Scherer SW, Tsui LC, Francke U.  Cytogenet Cell Genet.  1996; 72 (2-3): 187-8
• Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Wevrick R,  Francke U.  Lancet.  1996; 348 (9034): 1068-9
• Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. Rosenbloom AL,  Berg MA, Kasatkina EP, Volkova TN, Skorobogatova VF, Sokolovskaya VN, Francke U.  J Pediatr Endocrinol Metab.  1995 Jul-Sep; 8 (3): 159-65
• Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. Wiemer EA,  Nuttley WM, Bertolaet BL, Li X, Francke U, Wheelock MJ, Anné UK, Johnson KR, Subramani S.  J Cell Biol.  1995; 130 (1): 51-65
• Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. Bowen MA,  Patel DD, Li X, Modrell B, Malacko AR, Wang WC, Marquardt H, Neubauer M, Pesando JM, Francke U.  J Exp Med.  1995; 181 (6): 2213-20
• Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers. Laureys G,  Speleman F, Versteeg R, van der Drift P, Chan A, Leroy J, Francke U, Opdenakker G, Van Roy N.  Oncogene.  1995; 10 (6): 1087-93
• The question of heterogeneity in Marfan syndrome. Dietz H,  Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R.  Nat Genet.  1995; 9 (3): 228-31
• Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14. Yamamoto R,  Li X, Winter S, Francke U, Kilimann MW.  Hum Mol Genet.  1995; 4 (2): 265-8
• Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. Moore KJ,  Testa JR, Francke U, Milatovich A, Copeland NG, Jenkins NA.  Cytogenet Cell Genet.  1995; 69 (1-2): 53-8
• Characterisation of the chromosome breakpoints in a patient with a constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12) and neuroblastoma. Laureys G,  Versteeg R, Speleman F, van der Drift P, Francke U, Opdenakker G, Van Roy N.  Eur J Cancer.  1995; 31A (4): 523-6
• The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Zhu Q,  Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD.  Blood.  1995; 86 (10): 3797-804
• Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. Yamamoto R,  Li X, Francke U, Kilimann MW.  Am J Hum Genet.  1995; 57 (4): 970-2
• RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain. Derry JM,  Kerns JA, Francke U.  Hum Mol Genet.  1995; 4 (12): 2307-11
• Cloning and characterization of a novel zinc finger gene in Xp11.2. Derry JM,  Jess U, Francke U.  Genomics.  1995; 30 (2): 361-5
• The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. Derry JM,  Wiedemann P, Blair P, Wang Y, Kerns JA, Lemahieu V, Godfrey VL, Wilkinson JE, Francke U.  Genomics.  1995; 29 (2): 471-7
• Organization, regulatory sequences, and alternatively spliced transcripts of the mucosal addressin cell adhesion molecule-1 (MAdCAM-1) gene. Sampaio SO,  Li X, Takeuchi M, Mei C, Francke U, Butcher EC, Briskin MJ.  J Immunol.  1995; 155 (5): 2477-86
• Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Aoyama T,  Francke U, Gasner C, Furthmayr H.  Am J Med Genet.  1995; 58 (2): 169-76
• NFATc3, a lymphoid-specific NFATc family member that is calcium-regulated and exhibits distinct DNA binding specificity. Ho SN,  Thomas DJ, Timmerman LA, Li X, Francke U, Crabtree GR.  J Biol Chem.  1995; 270 (34): 19898-907
• Molecular cloning of the human homolog of a striatum-enriched phosphatase (STEP) gene and chromosomal mapping of the human and murine loci. Li X,  Luna J, Lombroso PJ, Francke U.  Genomics.  1995; 28 (3): 442-9
• WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Derry JM,  Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U.  Hum Mol Genet.  1995; 4 (7): 1127-35
• A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Francke U,  Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H.  Am J Hum Genet.  1995; 56 (6): 1287-96
• Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. Faraco J,  Bashir M, Rosenbloom J, Francke U.  Genomics.  1995; 25 (3): 630-7
• Clinical and molecular cytogenetics and gene mapping: principles and techniques. Francke U,  Southeast Asian J Trop Med Public Health.  1995; 26 Suppl 1 34-43
• Cloning and chromosomal localization of the human and murine genes for the T-cell transcription factors NFATc and NFATp. Li X,  Ho SN, Luna J, Giacalone J, Thomas DJ, Timmerman LA, Crabtree GR, Francke U.  Cytogenet Cell Genet.  1995; 68 (3-4): 185-91
• The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Pérez Jurado LA,  Li X, Francke U.  Cytogenet Cell Genet.  1995; 70 (3-4): 246-9
• Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. Peoples R,  Milatovich A, Francke U.  Cytogenet Cell Genet.  1995; 70 (3-4): 228-34
• Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2). Li X,  Yin W, Pérez-Jurado L, Bonadio J, Francke U.  Mamm Genome.  1995; 6 (1): 42-5
• Mapping of synapsin II (SYN2) genes to human chromosome 3p and mouse chromosome 6 band F. Li X,  Rosahl TW, Südhof TC, Francke U.  Cytogenet Cell Genet.  1995; 71 (3): 301-5
• Assignment of the gene SLC1A2 coding for the human glutamate transporter EAAT2 to human chromosome 11 bands p13-p12. Li X,  Francke U.  Cytogenet Cell Genet.  1995; 71 (3): 212-3
• Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Derry JM,  Ochs HD, Francke U.  Cell.  1994; 79 (5): following 922
• Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12. Giacalone J,  Francke U.  Hum Mol Genet.  1994; 3 (2): 379
• cDNA cloning of the human monocarboxylate transporter 1 and chromosomal localization of the SLC16A1 locus to 1p13.2-p12. Garcia CK,  Li X, Luna J, Francke U.  Genomics.  1994; 23 (2): 500-3
• African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Durham-Pierre D,  Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH.  Nat Genet.  1994; 7 (2): 176-9
• Marfan's syndrome and other disorders of fibrillin. Francke U,  Furthmayr H.  N Engl J Med.  1994; 330 (19): 1384-5
• Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Tachibana M,  Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, Fex J, Francke U, Arnheiter H.  Hum Mol Genet.  1994; 3 (4): 553-7
• Autosomal recessive neuromuscular disorder in a transgenic line of mice. Kelly D,  Chancellor K, Milatovich A, Francke U, Suzuki K, Popko B.  J Neurosci.  1994; 14 (1): 198-207
• Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN). Wilgenbus KK,  Hsieh CL, Lankes WT, Milatovich A, Francke U, Furthmayr H.  Genomics.  1994; 19 (2): 326-33
• Regional localization of 56 new human chromosome 18-specific yeast artificial chromosomes. Chang E,  Luna J, Giacalone J, Uyar D, Silverman GA, Francke U.  Cytogenet Cell Genet.  1994; 65 (1-2): 136-9
• Localization of the CAMKG gene encoding gamma isoforms of multifunctional calcium/calmodulin-dependent protein kinase (CaM kinase) to human chromosome 10 band q22 and mouse chromosome 14. Li X,  Nghiem P, Schulman H, Francke U.  Cytogenet Cell Genet.  1994; 66 (2): 113-6
• Digitized and differentially shaded human chromosome ideograms for genomic applications. Francke U,  Cytogenet Cell Genet.  1994; 65 (3): 206-18
• A radiation hybrid map of human chromosome 18. Francke U,  Chang E, Comeau K, Geigl EM, Giacalone J, Li X, Luna J, Moon A, Welch S, Wilgenbus P.  Cytogenet Cell Genet.  1994; 66 (3): 196-213
• Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Wevrick R,  Kerns JA, Francke U.  Hum Mol Genet.  1994; 3 (10): 1877-82
• Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. Aoyama T,  Francke U, Dietz HC, Furthmayr H.  J Clin Invest.  1994; 94 (1): 130-7
• Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human chromosome 5, band q34, and proximal mouse chromosome 11. Milatovich A,  Qiu RG, Grosschedl R, Francke U.  Mamm Genome.  1994; 5 (4): 211-5
• Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient. Berg MA,  Peoples R, Pérez-Jurado L, Guevara-Aguirre J, Rosenbloom AL, Laron Z, Milner RD, Francke U.  Acta Paediatr Suppl.  1994; 399 112-4
• Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis. Pérez Jurado LA,  Phillips JA, Francke U.  J Clin Endocrinol Metab.  1994; 78 (3): 622-8
• Chromosome localizations of genes for five cAMP-specific phosphodiesterases in man and mouse. Milatovich A,  Bolger G, Michaeli T, Francke U.  Somat Cell Mol Genet.  1994; 20 (2): 75-86
• The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Brilliant MH,  King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM, Durham-Pierre D, Nakatsu Y.  Pigment Cell Res.  1994; 7 (6): 398-402
• Structure, chromosomal localization, and expression pattern of the murine Magp gene. Chen Y,  Faraco J, Yin W, Germiller J, Francke U, Bonadio J.  J Biol Chem.  1993; 268 (36): 27381-9
• Genes and gene products involved in Marfan syndrome. Francke U,  Furthmayr H.  Semin Thorac Cardiovasc Surg.  1993; 5 (1): 3-10
• The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. Karasawa M,  Zwacka RM, Reuter A, Fink T, Hsieh CL, Lichter P, Francke U, Weiher H.  Hum Mol Genet.  1993; 2 (11): 1829-34
• cDNA cloning of the two subunits of human CAAX farnesyltransferase and chromosomal mapping of FNTA and FNTB loci and related sequences. Andres DA,  Milatovich A, Ozçelik T, Wenzlau JM, Brown MS, Goldstein JL, Francke U.  Genomics.  1993; 18 (1): 105-12
• Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Ibraghimov-Beskrovnaya O,  Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U, Campbell KP.  Hum Mol Genet.  1993; 2 (10): 1651-7
• The Second International Symposium on the Marfan Syndrome. Pyeritz RE,  Francke U.  Am J Med Genet.  1993; 47 (1): 127-35
• Structural comparison and chromosomal localization of the human and mouse IL-13 genes. McKenzie AN,  Li X, Largaespada DA, Sato A, Kaneda A, Zurawski SM, Doyle EL, Milatovich A, Francke U, Copeland NG.  J Immunol.  1993; 150 (12): 5436-44
• The Vin-1 gene, identified by provirus insertional mutagenesis, is the cyclin D2. Hanna Z,  Jankowski M, Tremblay P, Jiang X, Milatovich A, Francke U, Jolicoeur P.  Oncogene.  1993; 8 (6): 1661-6
• Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. Gao JL,  Kuhns DB, Tiffany HL, McDermott D, Li X, Francke U, Murphy PM.  J Exp Med.  1993; 177 (5): 1421-7
• Report of the first international workshop on human chromosome 18 mapping. Le Beau MM,  Overhauser J, Straub RE, Silverman G, Gilliam TC, Ott J, O'Connell P, Francke U, Geurts van Kessel A.  Cytogenet Cell Genet.  1993; 63 (2): 78-96
• Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. Li X,  Pereira L, Zhang H, Sanguineti C, Ramirez F, Bonadio J, Francke U.  Genomics.  1993; 18 (3): 667-72
• Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Aoyama T,  Tynan K, Dietz HC, Francke U, Furthmayr H.  Hum Mol Genet.  1993; 2 (12): 2135-40
• Roberts syndrome: a review of 100 cases and a new rating system for severity. Van Den Berg DJ,  Francke U.  Am J Med Genet.  1993; 47 (7): 1104-23
• Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Tynan K,  Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller DC, Francke U.  Hum Mol Genet.  1993; 2 (11): 1813-21
• Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region. Milatovich A,  Kitamura T, Miyajima A, Francke U.  Am J Hum Genet.  1993; 53 (5): 1146-53
• Genetic heterogeneity in Laron syndrome. Francke U,  Berg MA.  Acta Paediatr Suppl.  1993; 82 Suppl 391 3-7; discussion 8
• Generation of a human chromosome 18-specific YAC clone collection and mapping of 55 unique YACs by FISH and fingerprinting. Chang E,  Welch S, Luna J, Giacalone J, Francke U.  Genomics.  1993; 17 (2): 393-402
• Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors. Van den Berg DJ,  Francke U.  Somat Cell Mol Genet.  1993; 19 (4): 377-92
• Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene. Pérez-Jurado LA,  Francke U.  Hum Mol Genet.  1993; 2 (6): 827
• Diverse growth hormone receptor gene mutations in Laron syndrome. Berg MA,  Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U.  Am J Hum Genet.  1993; 52 (5): 998-1005
• Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10. Milatovich A,  Mendel DB, Crabtree GR, Francke U.  Genomics.  1993; 16 (1): 292-5
• Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. Wilgenbus KK,  Milatovich A, Francke U, Furthmayr H.  Genomics.  1993; 16 (1): 199-206
• A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. Morrissey J,  Tkachuk DC, Milatovich A, Francke U, Link M, Cleary ML.  Blood.  1993; 81 (5): 1124-31
• Genomic distribution and transcription of solitary HERV-K LTRs. Leib-Mösch C,  Haltmeier M, Werner T, Geigl EM, Brack-Werner R, Francke U, Erfle V, Hehlmann R.  Genomics.  1993; 18 (2): 261-9
• Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM. Bascom RA,  García-Heras J, Hsieh CL, Gerhard DS, Jones C, Francke U, Willard HF, Ledbetter DH, McInnes RR.  Am J Hum Genet.  1992; 51 (5): 1028-35
• Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome. Berg MA,  Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U.  Hum Mutat.  1992; 1 (1): 24-32
• Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. Arnaudo E,  Hirano M, Seelan RS, Milatovich A, Hsieh CL, Fabrizi GM, Grossman LI, Francke U, Schon EA.  Gene.  1992; 119 (2): 299-305
• Molecular genetics of steroid 5 alpha-reductase 2 deficiency. Thigpen AE,  Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW.  J Clin Invest.  1992; 90 (3): 799-809
• Molecular evolution of the human interleukin-8 receptor gene cluster. Ahuja SK,  Ozçelik T, Milatovitch A, Francke U, Murphy PM.  Nat Genet.  1992; 2 (1): 31-6
• Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Giacalone JP,  Francke U.  Am J Hum Genet.  1992; 51 (1): 226
• Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Marcus S,  Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U.  Hum Genet.  1992; 89 (4): 395-400
• Recombination of 4p16 DNA markers in an unusual family with Huntington disease. Pritchard C,  Zhu N, Zuo J, Bull L, Pericak-Vance MA, Vance JM, Roses AD, Milatovich A, Francke U, Cox DR.  Am J Hum Genet.  1992; 50 (6): 1218-30
• The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Patel PI,  Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U.  Nat Genet.  1992; 1 (3): 159-65
• Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins. Berkemeier LR,  Ozçelik T, Francke U, Rosenthal A.  Somat Cell Mol Genet.  1992; 18 (3): 233-45
• Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Lindgren V,  Bryke CR, Ozcelik T, Yang-Feng TL, Francke U.  Am J Hum Genet.  1992; 50 (5): 988-97
• A structural homologue of the N-formyl peptide receptor. Characterization and chromosome mapping of a peptide chemoattractant receptor family. Murphy PM,  Ozçelik T, Kenney RT, Tiffany HL, McDermott D, Francke U.  J Biol Chem.  1992; 267 (11): 7637-43
• cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Davidson JJ,  Ozçelik T, Hamacher C, Willems PJ, Francke U, Kilimann MW.  Proc Natl Acad Sci U S A.  1992; 89 (6): 2096-100
• Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor. Matsuo M,  Nishio H, Kitoh Y, Francke U, Nakamura H.  Biochem Biophys Res Commun.  1992; 182 (2): 495-500
• Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Ozçelik T,  Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U.  Nat Genet.  1992; 2 (4): 265-9
• Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Leff SE,  Brannan CI, Reed ML, Ozçelik T, Francke U, Copeland NG, Jenkins NA.  Nat Genet.  1992; 2 (4): 259-64
• Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4). Milatovich A,  Hsieh CL, Bonaminio G, Tecott L, Julius D, Francke U.  Hum Mol Genet.  1992; 1 (9): 681-4
• Structure and chromosomal localization of the mammalian agrin gene. Rupp F,  Ozçelik T, Linial M, Peterson K, Francke U, Scheller R.  J Neurosci.  1992; 12 (9): 3535-44
• DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2. Ozçelik T,  Porteus MH, Rubenstein JL, Francke U.  Genomics.  1992; 13 (4): 1157-61
• Assignment of the human alpha 2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids. Welch SK,  Francke U.  Genomics.  1992; 13 (1): 213-4
• Human cyclin B1 gene (CCNB1) assigned to chromosome 5 (q13-qter). Milatovich A,  Francke U.  Somat Cell Mol Genet.  1992; 18 (3): 303-7
• A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes. Giacalone J,  Friedes J, Francke U.  Nat Genet.  1992; 1 (2): 137-43
• Trembler mouse carries a point mutation in a myelin gene. Suter U,  Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM.  Nature.  1992; 356 (6366): 241-4
• Induced reciprocal translocation in transgenic mice near sites of transgene integration. Francke U,  Hsieh CL, Kelly D, Lai E, Popko B.  Mamm Genome.  1992; 3 (4): 209-16
• An X-linked human collagen transgene escapes X inactivation in a subset of cells. Wu H,  Fässler R, Schnieke A, Barker D, Lee KH, Chapman V, Francke U, Jaenisch R.  Development.  1992; 116 (3): 687-95
• Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. Jenkins EP,  Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW.  Genomics.  1991; 11 (4): 1102-12
• Chromosomal localization of the gene for AA-type platelet-derived growth factor receptor (PDGFRA) in humans and mice. Hsieh CL,  Navankasattusas S, Escobedo JA, Williams LT, Francke U.  Cytogenet Cell Genet.  1991; 56 (3-4): 160-3
• Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. Tse WT,  Menninger JC, Yang-Feng TL, Francke U, Sahr KE, Lux SE, Ward DC, Forget BG.  Genomics.  1991; 10 (4): 858-66
• Sequence analysis, expression and chromosomal localization of a gene, isolated from a subtracted human retina cDNA library, that encodes an insulin-like growth factor binding protein (IGFBP2). Agarwal N,  Hsieh CL, Sills D, Swaroop M, Desai B, Francke U, Swaroop A.  Exp Eye Res.  1991; 52 (5): 549-61
• Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. Lomax MI,  Hsieh CL, Darras BT, Francke U.  Genomics.  1991; 10 (1): 1-9
• Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. Cali JJ,  Hsieh CL, Francke U, Russell DW.  J Biol Chem.  1991; 266 (12): 7779-83
• cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. Hofmann SL,  Topham M, Hsieh CL, Francke U.  Genomics.  1991; 9 (4): 656-69
• DNA sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: identification of polymorphic alleles. You KH,  Hsieh CL, Hayes C, Stahl N, Francke U, Popko B.  Genomics.  1991; 9 (4): 751-7
• Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Archidiacono N,  Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U, Romeo G.  Hum Genet.  1991; 86 (6): 604-6
• Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). Keats BJ,  Sherman SL, Morton NE, Robson EB, Buetow KH, Cartwright PE, Chakravarti A, Francke U, Green PP, Ott J.  Genomics.  1991; 9 (3): 557-60
• Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. Spritz RA,  Strunk KM, Hsieh CL, Sekhon GS, Francke U.  Am J Hum Genet.  1991; 48 (2): 318-24
• Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. Perin MS,  Johnston PA, Ozcelik T, Jahn R, Francke U, Südhof TC.  J Biol Chem.  1991; 266 (1): 615-22
• Guidelines for human linkage maps. An International System for Human Linkage Maps (ISLM, 1990). Keats BJ,  Sherman SL, Morton NE, Robson EB, Buetow KH, Cartwright PE, Chakravarti A, Francke U, Green PP, Ott J.  Ann Hum Genet.  1991; 55 (Pt 1): 1-6
• Cytogenetic analysis in melanoma and nevi. Cowan JM,  Francke U.  Cancer Treat Res.  1991; 54 3-16
• Gene for lymphoid enhancer-binding factor 1 (LEF1) mapped to human chromosome 4 (q23-q25) and mouse chromosome 3 near Egf. Milatovich A,  Travis A, Grosschedl R, Francke U.  Genomics.  1991; 11 (4): 1040-8
• Tumor necrosis factor receptor genes, TNFR1 and TNFR2, on human chromosomes 12 and 1. Milatovich A,  Song K, Heller RA, Francke U.  Somat Cell Mol Genet.  1991; 17 (5): 519-23
• Genomic organization and chromosomal localization of the TAPA-1 gene. Andria ML,  Hsieh CL, Oren R, Francke U, Levy S.  J Immunol.  1991; 147 (3): 1030-6
• Chromosomal mapping of brain-derived neurotrophic factor and neurotrophin-3 genes in man and mouse. Ozçelik T,  Rosenthal A, Francke U.  Genomics.  1991; 10 (3): 569-75
• Identity of human Lyb-2 and CD72 and localization of the gene to chromosome 9. Von Hoegen I,  Hsieh CL, Scharting R, Francke U, Parnes JR.  Eur J Immunol.  1991; 21 (6): 1425-31
• Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Hsieh CL,  Kumar NM, Gilula NB, Francke U.  Somat Cell Mol Genet.  1991; 17 (2): 191-200
• A melanocyte-specific gene, Pmel 17, maps near the silver coat color locus on mouse chromosome 10 and is in a syntenic region on human chromosome 12. Kwon BS,  Chintamaneni C, Kozak CA, Copeland NG, Gilbert DJ, Jenkins N, Barton D, Francke U, Kobayashi Y, Kim KK.  Proc Natl Acad Sci U S A.  1991; 88 (20): 9228-32
• Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. Kuo CJ,  Conley PB, Hsieh CL, Francke U, Crabtree GR.  Proc Natl Acad Sci U S A.  1990; 87 (24): 9838-42
• The serotonin receptor subtype 2 locus HTR2 is on human chromosome 13 near genes for esterase D and retinoblastoma-1 and on mouse chromosome 14. Hsieh CL,  Bowcock AM, Farrer LA, Hebert JM, Huang KN, Cavalli-Sforza LL, Julius D, Francke U.  Somat Cell Mol Genet.  1990; 16 (6): 567-74
• Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Francke U,  Hsieh CL, Foellmer BE, Lomax KJ, Malech HL, Leto TL.  Am J Hum Genet.  1990; 47 (3): 483-92
• Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse. Ozçelik T,  Lafreniere RG, Archer BT, Johnston PA, Willard HF, Francke U, Südhof TC.  Am J Hum Genet.  1990; 47 (3): 551-61
• Insulin-degrading enzyme: stable expression of the human complementary DNA, characterization of its protein product, and chromosomal mapping of the human and mouse genes. Affholter JA,  Hsieh CL, Francke U, Roth RA.  Mol Endocrinol.  1990; 4 (8): 1125-35
• Origin of mutations in two families with X-linked chronic granulomatous disease. Francke U,  Ochs HD, Darras BT, Swaroop A.  Blood.  1990; 76 (3): 602-6
• Chromosomal localization and cDNA sequence of human ralB, a GTP binding protein. Hsieh CL,  Swaroop A, Francke U.  Somat Cell Mol Genet.  1990; 16 (4): 407-10
• Assignment of Amog (adhesion molecule on glia) gene to mouse chromosome 11 near Zfp-3 and Asgr-1,2 and to human chromosome 17. Hsieh CL,  Cheng-Deutsch A, Gloor S, Schachner M, Francke U.  Somat Cell Mol Genet.  1990; 16 (4): 401-5
• The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. Hsieh CL,  Sturm R, Herr W, Francke U.  Genomics.  1990; 6 (4): 666-72
• The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. Hsieh CL,  Donlon TA, Darras BT, Chang DD, Topper JN, Clayton DA, Francke U.  Genomics.  1990; 6 (3): 540-4
• Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2. Archer BT,  Ozçelik T, Jahn R, Francke U, Südhof TC.  J Biol Chem.  1990; 265 (28): 17267-73
• Molecular structure, chromosome assignment, and promoter organization of the human matrix Gla protein gene. Cancela L,  Hsieh CL, Francke U, Price PA.  J Biol Chem.  1990; 265 (25): 15040-8
• CD14 is a member of the family of leucine-rich proteins and is encoded by a gene syntenic with multiple receptor genes. Ferrero E,  Hsieh CL, Francke U, Goyert SM.  J Immunol.  1990; 145 (1): 331-6
• Human embryonic/atrial myosin alkali light chain gene: characterization, sequence, and chromosomal location. Seharaseyon J,  Bober E, Hsieh CL, Fodor WL, Francke U, Arnold HH, Vanin EF.  Genomics.  1990; 7 (2): 289-93
• A regular pattern of two types of 100-residue motif in the sequence of titin. Labeit S,  Barlow DP, Gautel M, Gibson T, Holt J, Hsieh CL, Francke U, Leonard K, Wardale J, Whiting A.  Nature.  1990; 345 (6272): 273-6
• Molecular analysis of the Mov 34 mutation: transcript disrupted by proviral integration in mice is conserved in Drosophila. Gridley T,  Gray DA, Orr-Weaver T, Soriano P, Barton DE, Francke U, Jaenisch R.  Development.  1990; 109 (1): 235-42
• cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19. Levanon D,  Hsieh CL, Francke U, Dawson PA, Ridgway ND, Brown MS, Goldstein JL.  Genomics.  1990; 7 (1): 65-74
• Molecular genetics. A gene for Wilms tumour? Francke U,  Nature.  1990; 343 (6260): 692-4
• Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. Lomax MI,  Welch MD, Darras BT, Francke U, Grossman LI.  Gene.  1990; 86 (2): 209-16
• Chromosomal organization of adrenergic receptor genes. Yang-Feng TL,  Xue FY, Zhong WW, Cotecchia S, Frielle T, Caron MG, Lefkowitz RJ, Francke U.  Proc Natl Acad Sci U S A.  1990; 87 (4): 1516-20
• Structure and chromosomal mapping of a highly polymorphic repetitive DNA sequence from the pseudoautosomal region of the mouse sex chromosomes. Harbers K,  Francke U, Soriano P, Jaenisch R, Müller U.  Cytogenet Cell Genet.  1990; 53 (2-3): 129-33
• Gene for alpha 2(I) collagen is on mouse chromosome 6 not 16. Sundaresan S,  Francke U.  Somat Cell Mol Genet.  1989; 15 (5): 471-3
• Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity. Friedman JM,  Schneider BS, Barton DE, Francke U.  Genomics.  1989; 5 (3): 463-9
• Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21. Brack-Werner R,  Barton DE, Werner T, Foellmer BE, Leib-Mösch C, Francke U, Erfle V, Hehlmann R.  Genomics.  1989; 4 (1): 68-75
• Genetic characterization of a human endogenous retroviral element located on chromosome 18q21. Leib-Mösch C,  Barton DE, Brack-Werner R, Foellmer B, Werner T, Rohrmeier D, Francke U, Erfle V, Hehlmann R.  Haematol Blood Transfus.  1989; 32 461-3
• Chromosome mapping of the growth hormone receptor gene in man and mouse. Barton DE,  Foellmer BE, Wood WI, Francke U.  Cytogenet Cell Genet.  1989; 50 (2-3): 137-41
• Adrenal glucocorticoids regulate adipsin gene expression in genetically obese mice. Spiegelman BM,  Lowell B, Napolitano A, Dubuc P, Barton D, Francke U, Groves DL, Cook KS, Flier JS.  J Biol Chem.  1989; 264 (3): 1811-5
• Dystrophin immunocytochemistry in muscle culture: detection of a carrier of Duchenne muscular dystrophy. Miranda AF,  Francke U, Bonilla E, Martucci G, Schmidt B, Salviati G, Rubin M.  Am J Med Genet.  1989; 32 (2): 268-73
• Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. Fodor WL,  Darras B, Seharaseyon J, Falkenthal S, Francke U, Vanin EF.  J Biol Chem.  1989; 264 (4): 2143-9
• Blast-1 possesses a glycosyl-phosphatidylinositol (GPI) membrane anchor, is related to LFA-3 and OX-45, and maps to chromosome 1q21-23. Staunton DE,  Fisher RC, LeBeau MM, Lawrence JB, Barton DE, Francke U, Dustin M, Thorley-Lawson DA.  J Exp Med.  1989; 169 (3): 1087-99
• Two RFLPs associated with the human endogenous retroviral element S71 on chromosome 18q21. Leib-Mösch C,  Barton D, Geigl EM, Brack-Werner R, Erfle V, Hehlmann R, Francke U.  Nucleic Acids Res.  1989; 17 (6): 2367
• The glucocorticoid receptor gene is in 5q31-q32 [corrected] Francke U,  Foellmer BE.  Genomics.  1989; 4 (4): 610-2
• Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Battat L,  Francke U.  Nucleic Acids Res.  1989; 17 (9): 3619
• A common SacI polymorphism in the gene for the M1 subunit of ribonucleotide reductase (RRM1). Battat L,  Francke U.  Nucleic Acids Res.  1989; 17 (10): 4005
• Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. Rozen R,  Barton D, Du J, Hum DW, MacKenzie RE, Francke U.  Am J Hum Genet.  1989; 44 (6): 781-6
• A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. Rizzuto R,  Nakase H, Darras B, Francke U, Fabrizi GM, Mengel T, Walsh F, Kadenbach B, DiMauro S, Schon EA.  J Biol Chem.  1989; 264 (18): 10595-600
• Insulin-like growth factor I receptor gene is concordant with c-Fes protooncogene and mouse chromosome 7 in somatic cell hybrids. Sundaresan S,  Francke U.  Somat Cell Mol Genet.  1989; 15 (4): 373-6
• Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Francke U,  Darras BT, Hersh JH, Berg BO, Miller RG.  Am J Hum Genet.  1989; 45 (1): 63-72
• Genes for beta 2-adrenergic receptor and platelet-derived growth factor receptor map to mouse chromosome 18. Sundaresan S,  Francke U.  Somat Cell Mol Genet.  1989; 15 (4): 367-71
• Mapping of genes for inhibin subunits alpha, beta A, and beta B on human and mouse chromosomes and studies of jsd mice. Barton DE,  Yang-Feng TL, Mason AJ, Seeburg PH, Francke U.  Genomics.  1989; 5 (1): 91-9
• Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Francke U,  Darras BT, Zander NF, Kilimann MW.  Am J Hum Genet.  1989; 45 (2): 276-82
• Genes for HMG-CoA reductase and serotonin 1a receptor are on mouse chromosome 13. Sundaresan S,  Yang-Feng TL, Francke U.  Somat Cell Mol Genet.  1989; 15 (5): 465-9
• Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene. Kwon BS,  Haq AK, Wakulchik M, Kestler D, Barton DE, Francke U, Lamoreux ML, Whitney JB, Halaban R.  J Invest Dermatol.  1989; 93 (5): 589-94
• Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP). Hsieh CL,  Vogel US, Dixon RA, Francke U.  Somat Cell Mol Genet.  1989; 15 (6): 579-90
• Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Yang-Feng TL,  Schneider JW, Lindgren V, Shull MM, Benz EJ, Lingrel JB, Francke U.  Genomics.  1988; 2 (2): 128-38
• Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Swaroop A,  Hogan BL, Francke U.  Genomics.  1988; 2 (1): 37-47
• The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Münke M,  Kraus JP, Ohura T, Francke U.  Am J Hum Genet.  1988; 42 (4): 550-9
• Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes. Münke M,  Foellmer B, Watkins PC, Cowan JM, Carroll AJ, Gusella JF, Francke U.  Am J Hum Genet.  1988; 42 (4): 542-9
• Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. Richmond A,  Balentien E, Thomas HG, Flaggs G, Barton DE, Spiess J, Bordoni R, Francke U, Derynck R.  EMBO J.  1988; 7 (7): 2025-33
• Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Barton DE,  Kwon BS, Francke U.  Genomics.  1988; 3 (1): 17-24
• Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Darras BT,  Francke U.  Am J Hum Genet.  1988; 43 (2): 126-30
• Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome. Burke BA,  Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW.  Am J Med Genet.  1988; 31 (1): 75-97
• Cytogenetic analysis of melanocytes from premalignant nevi and melanomas. Cowan JM,  Halaban R, Francke U.  J Natl Cancer Inst.  1988; 80 (14): 1159-64
• Chromosomal mapping of the gene for the type II insulin-like growth factor receptor/cation-independent mannose 6-phosphate receptor in man and mouse. Laureys G,  Barton DE, Ullrich A, Francke U.  Genomics.  1988; 3 (3): 224-9
• Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Darras BT,  Francke U.  Am J Hum Genet.  1988; 43 (5): 612-9
• Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Darras BT,  Blattner P, Harper JF, Spiro AJ, Alter S, Francke U.  Am J Hum Genet.  1988; 43 (5): 620-9
• Chromosome localization and expression pattern of Lmyc and Bmyc in murine embryonal carcinoma cells. Ingvarsson S,  Sundaresan S, Jin P, Francke U, Asker C, Sümegi J, Klein G, Sejersen T.  Oncogene.  1988; 3 (6): 679-85
• Chromosomal mapping of genes for transforming growth factors beta 2 and beta 3 in man and mouse: dispersion of TGF-beta gene family. Barton DE,  Foellmer BE, Du J, Tamm J, Derynck R, Francke U.  Oncogene Res.  1988; 3 (4): 323-31
• Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13. Alonso MA,  Barton DE, Francke U.  Immunogenetics.  1988; 27 (2): 91-5
• Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Darras BT,  Koenig M, Kunkel LM, Francke U.  Am J Med Genet.  1988; 29 (3): 713-26
• Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species. Leto TL,  Fortugno-Erikson D, Barton D, Yang-Feng TL, Francke U, Harris AS, Morrow JS, Marchesi VT, Benz EJ.  Mol Cell Biol.  1988; 8 (1): 1-9
• The structural gene for the M1 subunit of ribonucleotide reductase maps to chromosome 11, band p15, in human and to chromosome 7 in mouse. Brissenden JE,  Caras I, Thelander L, Francke U.  Exp Cell Res.  1988; 174 (1): 302-8
• An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Kobilka BK,  Frielle T, Collins S, Yang-Feng T, Kobilka TS, Francke U, Lefkowitz RJ, Caron MG.  Nature.  1987 Sep 3-9; 329 (6134): 75-9
• A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Darras BT,  Francke U.  Nature.  1987 Oct 8-14; 329 (6139): 556-8
• Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Kobilka BK,  Matsui H, Kobilka TS, Yang-Feng TL, Francke U, Caron MG, Lefkowitz RJ, Regan JW.  Science.  1987; 238 (4827): 650-6
• Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. Yarden Y,  Kuang WJ, Yang-Feng T, Coussens L, Munemitsu S, Dull TJ, Chen E, Schlessinger J, Francke U, Ullrich A.  EMBO J.  1987; 6 (11): 3341-51
• Activation of human alpha 1-antitrypsin genes in rat hepatoma x human fibroblast hybrid cell lines is correlated with demethylation. Barton DE,  Francke U.  Somat Cell Mol Genet.  1987; 13 (6): 635-44
• Restriction of human adenovirus replication in Chinese hamster cell lines and their hybrids with human cells. Radna RL,  Foellmer B, Feldman LA, Francke U, Ozer HL.  Virus Res.  1987; 8 (4): 277-99
• Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15. Kraus JP,  Matsubara Y, Barton D, Yang-Feng TL, Glassberg R, Ito M, Ikeda Y, Mole J, Francke U, Tanaka K.  Genomics.  1987; 1 (3): 264-9
• The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Spritz RA,  Strunk K, Surowy CS, Hoch SO, Barton DE, Francke U.  Nucleic Acids Res.  1987; 15 (24): 10373-91
• The physical map of Mus musculus chromosome 11 reveals evolutionary relationships with different syntenic groups of genes in Homo sapiens. Münke M,  Francke U.  J Mol Evol.  1987; 25 (2): 134-40
• cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Kobilka BK,  Dixon RA, Frielle T, Dohlman HG, Bolanowski MA, Sigal IS, Yang-Feng TL, Francke U, Caron MG, Lefkowitz RJ.  Proc Natl Acad Sci U S A.  1987; 84 (1): 46-50
• The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice. Barton DE,  Arquint M, Roder J, Dunn R, Francke U.  Genomics.  1987; 1 (2): 107-12
• Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines. Yang-Feng TL,  Barton DE, Thelander L, Lewis WH, Srinivasan PR, Francke U.  Genomics.  1987; 1 (1): 77-86
• Cytogenetic and molecular genetic studies of a patient with atypical lymphoid hyperplasia. Chenevix-Trench G,  Cowan JM, Behm FG, Goorha R, Brown JA, Westin EH, Francke U.  Cancer Genet Cytogenet.  1987; 27 (2): 251-9
• Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases. Warburton D,  Anyane-Yeboa K, Francke U.  Am J Med Genet.  1987; 27 (2): 275-83
• Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Cahilly-Snyder L,  Yang-Feng T, Francke U, George DL.  Somat Cell Mol Genet.  1987; 13 (3): 235-44
• Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. Darras BT,  Harper JF, Francke U.  N Engl J Med.  1987; 316 (16): 985-92
• Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Francke U,  Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP.  Am J Hum Genet.  1987; 40 (3): 212-27
• Molecular analysis of synapsin I, a candidate gene for Rett syndrome. DeGennaro LJ,  McCaffery CA, Kirchgessner CU, Yang-Feng TL, Francke U.  Brain Dev.  1987; 9 (5): 469-74
• Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Yarden Y,  Escobedo JA, Kuang WJ, Yang-Feng TL, Daniel TO, Tremble PM, Chen EY, Ando ME, Harkins RN, Francke U.  Nature.  1986 Sep 18-24; 323 (6085): 226-32
• Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Kunkel LM,  Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U.  Nature.  1986 Jul 3-9; 322 (6074): 73-7
• A variable tandem repeat locus mapped to chromosome band 10q26 is amplified and rearranged in leukocyte DNAs of two cancer patients. Colb M,  Yang-Feng T, Francke U, Mermer B, Parkinson DR, Krontiris TG.  Nucleic Acids Res.  1986; 14 (20): 7929-37
• Multiple chromosomal rearrangements in a spontaneously arising t(6;7) rat immunocytoma juxtapose c-myc and immunoglobulin heavy chain sequences. Pear WS,  Ingvarsson S, Steffen D, Münke M, Francke U, Bazin H, Klein G, Sümegi J.  Proc Natl Acad Sci U S A.  1986; 83 (19): 7376-80
• Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1. Matsubara Y,  Kraus JP, Yang-Feng TL, Francke U, Rosenberg LE, Tanaka K.  Proc Natl Acad Sci U S A.  1986; 83 (17): 6543-7
• Sequential expression of murine homeo box genes during F9 EC cell differentiation. Breier G,  Bu?an M, Francke U, Colberg-Poley AM, Gruss P.  EMBO J.  1986; 5 (9): 2209-15
• Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Coussens L,  Parker PJ, Rhee L, Yang-Feng TL, Chen E, Waterfield MD, Francke U, Ullrich A.  Science.  1986; 233 (4766): 859-66
• Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11. Mason IJ,  Murphy D, Münke M, Francke U, Elliott RW, Hogan BL.  EMBO J.  1986; 5 (8): 1831-7
• Human tissue-type plasminogen activator gene located near chromosomal breakpoint in myeloproliferative disorder. Yang-Feng TL,  Opdenakker G, Volckaert G, Francke U.  Am J Hum Genet.  1986; 39 (1): 79-87
• Elusive chromosome anomalies. Francke U,  Hosp Pract (Off Ed).  1986; 21 (5): 175-8, 182, 191-3
• Transforming growth factor beta gene maps to human chromosome 19 long arm and to mouse chromosome 7. Fujii D,  Brissenden JE, Derynck R, Francke U.  Somat Cell Mol Genet.  1986; 12 (3): 281-8
• Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Kraus JP,  Williamson CL, Firgaira FA, Yang-Feng TL, Münke M, Francke U, Rosenberg LE.  Proc Natl Acad Sci U S A.  1986; 83 (7): 2047-51
• An expressed beta-tubulin gene, TUBB, is located on the short arm of human chromosome 6 and two related sequences are dispersed on chromosomes 8 and 13. Floyd-Smith G,  De Martinville B, Francke U.  Exp Cell Res.  1986; 163 (2): 539-48
• The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22----q24) by somatic cell hybrid analysis and in situ hybridization. Barton DE,  Yang-Feng TL, Francke U.  Hum Genet.  1986; 72 (3): 221-4
• The involvement of 6p in melanoma. Cowan JM,  Halaban R, Lane AT, Francke U.  Cancer Genet Cytogenet.  1986; 20 (3-4): 255-61
• The human C-reactive protein gene (CRP) and serum amyloid P component gene (APCS) are located on the proximal long arm of chromosome 1. Floyd-Smith G,  Whitehead AS, Colten HR, Francke U.  Immunogenetics.  1986; 24 (3): 171-6
• Human luteinizing hormone-releasing hormone gene (LHRH) is located on short arm of chromosome 8 (region 8p11.2----p21). Yang-Feng TL,  Seeburg PH, Francke U.  Somat Cell Mol Genet.  1986; 12 (1): 95-100
• Chromosomal mapping of four different integration sites of Moloney murine leukemia virus including the locus for alpha 1(I) collagen in mouse. Münke M,  Harbers K, Jaenisch R, Francke U.  Cytogenet Cell Genet.  1986; 43 (3-4): 140-9
• The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19. Yang-Feng TL,  Landau NR, Baltimore D, Francke U.  Cytogenet Cell Genet.  1986; 43 (3-4): 121-6
• Chromosomal mapping of genes involved in growth control. Francke U,  Yang-Feng TL, Brissenden JE, Ullrich A.  Cold Spring Harb Symp Quant Biol.  1986; 51 Pt 2 855-66
• Regional assignments of three polymorphic DNA segments on human chromosome 15. Brissenden JE,  Page DC, de Martinville B, Trowsdale J, Botstein D, Francke U.  Genet Epidemiol.  1986; 3 (4): 231-9
• The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. Münke M,  Cox DR, Jackson IJ, Hogan BL, Francke U.  Cytogenet Cell Genet.  1986; 42 (4): 236-40
• Localization of the LDHA gene to 11p14----11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13. Yang-Feng TL,  Bruns GA, Carroll AJ, Simola KO, Francke U.  Hum Genet.  1986; 74 (4): 331-4
• Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. Krassikoff NE,  Cowan JM, Parry DM, Francke U.  Am J Hum Genet.  1986; 39 (5): 618-30
• Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Yang-Feng TL,  DeGennaro LJ, Francke U.  Proc Natl Acad Sci U S A.  1986; 83 (22): 8679-83
• Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. Bu?an M,  Yang-Feng T, Colberg-Poley AM, Wolgemuth DJ, Guenet JL, Francke U, Lehrach H.  EMBO J.  1986; 5 (11): 2899-905
• Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy. Hofker MH,  Bergen AA, Skraastad MI, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen GJ, Pearson PL.  Hum Genet.  1986; 74 (3): 275-9
• Human genes for U2 small nuclear RNA map to a major adenovirus 12 modification site on chromosome 17. Lindgren V,  Ares M, Weiner AM, Francke U.  Nature.  1985 Mar 7-13; 314 (6006): 115-6
• The gene encoding the Ia-associated invariant chain is located on chromosome 18 in the mouse. Yamamoto K,  Floyd-Smith G, Francke U, Koch N, Lauer W, Dobberstein B, Schäfer R, Hämmerling GJ.  Immunogenetics.  1985; 21 (1): 83-90
• Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Brissenden JE,  Derynck R, Francke U.  Cancer Res.  1985; 45 (11 Pt 2): 5593-7
• The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Yang-Feng TL,  Floyd-Smith G, Nemer M, Drouin J, Francke U.  Am J Hum Genet.  1985; 37 (6): 1117-28
• Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization. Münke M,  de Martinville B, Lieber E, Francke U.  Am J Med Genet.  1985; 22 (2): 361-74
• The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Schechter AL,  Hung MC, Vaidyanathan L, Weinberg RA, Yang-Feng TL, Francke U, Ullrich A, Coussens L.  Science.  1985; 229 (4717): 976-8
• Human U1 small nuclear RNA pseudogenes do not map to the site of the U1 genes in 1p36 but are clustered in 1q12-q22. Lindgren V,  Bernstein LB, Weiner AM, Francke U.  Mol Cell Biol.  1985; 5 (9): 2172-80
• Assignment of the structural gene for subunit M1 of human ribonucleotide reductase to the short arm of chromosome 11. Engström Y,  Francke U.  Exp Cell Res.  1985; 158 (2): 477-83
• Assignment of the human gene for the glucocorticoid receptor to chromosome 5. Gehring U,  Segnitz B, Foellmer B, Francke U.  Proc Natl Acad Sci U S A.  1985; 82 (11): 3751-5
• Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Yang-Feng TL,  Francke U, Ullrich A.  Science.  1985; 228 (4700): 728-31
• Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Francke U,  Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL.  Am J Hum Genet.  1985; 37 (2): 250-67
• High resolution cytogenetic evaluation of couples with recurring fetal wastage. Yang-Feng TL,  Finley SC, Finley WH, Francke U.  Hum Genet.  1985; 69 (3): 246-9
• Direct assignment of orosomucoid to human chromosome 9 and alpha 2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids. Cox DW,  Francke U.  Hum Genet.  1985; 70 (2): 109-15
• Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Coussens L,  Yang-Feng TL, Liao YC, Chen E, Gray A, McGrath J, Seeburg PH, Libermann TA, Schlessinger J, Francke U.  Science.  1985; 230 (4730): 1132-9
• Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Lindgren V,  Luskey KL, Russell DW, Francke U.  Proc Natl Acad Sci U S A.  1985; 82 (24): 8567-71
• Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor. Brissenden JE,  Ullrich A, Francke U.  Nature.  1984 Aug 30-Sep 5; 310 (5980): 781-4
• DNA analysis of first-trimester chorionic villous biopsies: test for maternal contamination. de Martinville B,  Blakemore KJ, Mahoney MJ, Francke U.  Am J Hum Genet.  1984; 36 (6): 1357-68
• Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). Aula P,  Astrin KH, Francke U, Desnick RJ.  Am J Hum Genet.  1984; 36 (6): 1215-24
• Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and Southern blotting: high-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1. Münke M,  Lindgren V, de Martinville B, Francke U.  Somat Cell Mol Genet.  1984; 10 (6): 589-99
• Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Francke U,  Cytogenet Cell Genet.  1984; 38 (4): 298-307
• Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Francke U,  Brown MS, Goldstein JL.  Proc Natl Acad Sci U S A.  1984; 81 (9): 2826-30
• Amplified DNA in Y1 mouse adrenal tumor cells: isolation of cDNAs complementary to an amplified c-Ki-ras gene and localization of homologous sequences to mouse chromosome 6. George DL,  Scott AF, de Martinville B, Francke U.  Nucleic Acids Res.  1984; 12 (6): 2731-43
• Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Skovby F,  Krassikoff N, Francke U.  Hum Genet.  1984; 65 (3): 291-4
• Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Lindgren V,  de Martinville B, Horwich AL, Rosenberg LE, Francke U.  Science.  1984; 226 (4675): 698-700
• The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. de Martinville B,  Francke U.  Nature.  1983 Oct 13-19; 305 (5935): 641-3
• Chromosomal assignments of three random RFLP loci defined by base-pair changes in MspI sites. de Martinville B,  Schäfer M, White R, Francke U.  Mol Biol Med.  1983; 1 (4): 415-24
• Activation of human alpha 1-antitrypsin gene in rat hepatoma x human fetal liver cell hybrids depends on presence of human chromosome 14. Pearson SJ,  Tetri P, George DL, Francke U.  Somatic Cell Genet.  1983; 9 (5): 567-92
• Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. Vora S,  Miranda AF, Hernandez E, Francke U.  Hum Genet.  1983; 63 (4): 374-9
• Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11. Francke U,  Foellmer BE, Haynes BF.  Somatic Cell Genet.  1983; 9 (3): 333-44
• Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis. Horwich A,  Riccardi VM, Francke U.  Am J Med Genet.  1983; 14 (3): 577-81
• Oncogene from human EJ bladder carcinoma is located on the short arm of chromosome 11. de Martinville B,  Giacalone J, Shih C, Weinberg RA, Francke U.  Science.  1983; 219 (4584): 498-501
• Fusion of DNA region to murine immunoglobulin heavy chain locus corresponds to plasmacytoma-associated chromosome translocation. Cory S,  Adams JM, Gerondakis SD, Miller JF, Gamble J, Wiener F, Spira J, Francke U.  EMBO J.  1983; 2 (2): 213-6
• The human gene for the beta subunit of nerve growth factor is located on the proximal short arm of chromosome 1. Francke U,  de Martinville B, Coussens L, Ullrich A.  Science.  1983; 222 (4629): 1248-51
• The N-ras oncogene assigned to the short arm of human chromosome 1. de Martinville B,  Cunningham JM, Murray MJ, Francke U.  Nucleic Acids Res.  1983; 11 (15): 5267-75
• Report of the committee on human gene mapping by recombinant DNA techniques. Skolnick MH,  Francke U.  Birth Defects Orig Artic Ser.  1982; 18 (2): 194-204
• Two main groups of mouse major urinary protein genes, both largely located on chromosome 4. Bishop JO,  Clark AJ, Clissold PM, Hainey S, Francke U.  EMBO J.  1982; 1 (5): 615-20
• Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody. Vora S,  Durham S, de Martinville B, George DL, Francke U.  Somatic Cell Genet.  1982; 8 (1): 95-104
• H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Haseltine FP,  Lynch VA, Van Dyke DL, Breg WR, Francke U.  Am J Med Genet.  1982; 13 (2): 115-23
• Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Page D,  de Martinville B, Barker D, Wyman A, White R, Francke U, Botstein D.  Proc Natl Acad Sci U S A.  1982; 79 (17): 5352-6
• Comparative gene mapping: murine lambda light chain genes are located in region cen to B5 of mouse chromosome 16 not homologous to human chromosome 21. Francke U,  De Martinville B, D'Eustachio P, Ruddle FH.  Cytogenet Cell Genet.  1982; 33 (3): 267-71
• Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. de Martinville B,  Wyman AR, White R, Francke U.  Am J Hum Genet.  1982; 34 (2): 216-26
• Mapping of polypeptide genes by two-dimensional gel electrophoresis of hybrid cell extracts. Taggart RT,  Francke U.  Birth Defects Orig Artic Ser.  1982; 18 (2): 99-110
• Mapping of polypeptide genes by two-dimensional gel electrophoresis of hybrid cell extracts. Taggart RT,  Francke U.  Cytogenet Cell Genet.  1982; 32 (1-4): 99-110
• Report of the committee on human gene mapping by recombinant DNA techniques. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Skolnick MH,  Francke U.  Cytogenet Cell Genet.  1982; 32 (1-4): 194-204
• The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20. Hershfield MS,  Francke U.  Science.  1982; 216 (4547): 739-42
• Assignment of genes to the human X chromosome by the two-dimensional electrophoretic analysis of total cell proteins from rodent-human somatic cell hybrids. Cox DR,  Francke U, Epstein CJ.  Am J Hum Genet.  1981; 33 (4): 495-512
• Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody. Vora S,  Francke U.  Proc Natl Acad Sci U S A.  1981; 78 (6): 3738-42
• Requirement of the human chromosome 11 long arm for replication of herpes simplex virus type 1 in nonpermissive Chinese hamster x human diploid fibroblast hybrids. Francke U,  Francke B.  Somatic Cell Genet.  1981; 7 (2): 171-91
• Gene for monoamine oxidase type A assigned to the human X chromosome. Pintar JE,  Barbosa J, Francke U, Castiglione CM, Hawkins M, Breakefield XO.  J Neurosci.  1981; 1 (2): 166-75
• Conserved autosomal syntenic group on mouse (MMU) chromosome 15 and human (HSA) chromosome 22: assignment of a gene for arylsulfatase A to MMU 15 and regional mapping of DIA1, ARSA, and ACO2 on HSA 22. Francke U,  Tetri P, Taggart RT, Oliver N.  Cytogenet Cell Genet.  1981; 31 (2): 58-69
• Absence of H-Y antigen in an XY female with campomelic dysplasia. Puck SM,  Haseltine FP, Francke U.  Hum Genet.  1981; 57 (1): 23-7
• Karyotypic analysis of methotrexate-resistant and sensitive mouse L5178Y cells. Berenson RJ,  Francke U, Dolnick BJ, Bertino JR.  Cytogenet Cell Genet.  1981; 29 (3): 145-52
• The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. George DL,  Phillips JA, Francke U, Seeburg PH.  Hum Genet.  1981; 57 (2): 138-41
• High-resolution ideograms of trypsin-Giemsa banded human chromosomes. Francke U,  Cytogenet Cell Genet.  1981; 31 (1): 24-32
• Chromosome assignment of a murine glucocorticoid receptor gene (Grl-1) using intraspecies somatic cell hybrids. Francke U,  Gehring U.  Cell.  1980; 22 (3): 657-64
• Cytogenetic approaches to mouse models of human genetic diseases. Francke U,  Am J Pathol.  1980; 101 (3 Suppl): S41-51
• Assignment of the gene for NADH diaphorase Dia-1 to Mouse chromosome 15. Taggart RT,  Tetri P, Francke U.  Somatic Cell Genet.  1980; 6 (6): 769-76
• The penta-X syndrome. Monheit A,  Francke U, Saunders B, Jones KL.  J Med Genet.  1980; 17 (5): 392-6
• Diffuse polyclonal B-cell lymphoma during primary infection with Epstein-Barr virus. Robinson JE,  Brown N, Andiman W, Halliday K, Francke U, Robert MF, Andersson-Anvret M, Horstmann D, Miller G.  N Engl J Med.  1980; 302 (23): 1293-7
• Supermelanotic hybrids derived from mouse melanomas and normal mouse cells. Halaban R,  Nordlund J, Francke U, Moellmann G, Eisenstadt JM.  Somatic Cell Genet.  1980; 6 (1): 29-44
• The beta-globin gene is on the short arm of human chromosome 11. Sanders-Haigh L,  Anderson WF, Francke U.  Nature.  1980; 283 (5748): 683-6
• Duplication 12q mosaicism in two unrelated patients with a similar syndrome. Harrod MJ,  Byrne JB, Dev VG, Francke U.  Am J Med Genet.  1980; 7 (2): 123-9
• Variation in human HPRT and its relationship to neurologic and behavioral manifestations. Bakay B,  Nissinen E, Sweetman L, Francke U, Nyhan WL.  Adv Exp Med Biol.  1980; 122A 317-25
• Report of the committee on the genetic constitution of chromosome 6. Francke U,  Weitkamp LR.  Birth Defects Orig Artic Ser.  1980; 15 (11): 32-8
• Homogeneously staining chromosome regions and double minutes in a mouse adrenocortical tumor cell line. George DL,  Francke U.  Cytogenet Cell Genet.  1980; 28 (4): 217-26
• Comparative gene mapping: order of loci on the X chromosome is different in mice and humans. Francke U,  Taggart RT.  Proc Natl Acad Sci U S A.  1980; 77 (6): 3595-9
• Report of the committee on the genetic constitution of chromosome 6. Francke U,  Weitkamp LR.  Cytogenet Cell Genet.  1979; 25 (1-4): 32-8
• Spontaneous expression of murine endogenous viruses in hamster X mouse hybrid cells. Park SS,  Gazdar AF, Lalley PA, Minna JD, Francke U.  Int J Cancer.  1979; 23 (1): 52-61
• Immediate chromosome diagnosis on bone marrow cells: an aid to management of the malformed newborn infant. Francke U,  Brown MG, Jones KL.  J Pediatr.  1979; 94 (2): 289-92
• Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Riccardi VM,  Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R.  Clin Genet.  1979; 15 (4): 332-45
• Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome. Curry CJ,  Loughman WD, Francke U, Hall BD, Golbus MS, Derstine J, Epstein CJ.  Clin Genet.  1979; 15 (5): 454-61
• Aniridia caused by a heritable chromosome 11 deletion. Hittner HM,  Riccardi VM, Francke U.  Ophthalmology.  1979; 86 (6): 1173-83
• Karyotype evolution of the simian virus 40--transformed human cell line LNSV. Begovich A,  Francke U.  Cytogenet Cell Genet.  1979; 23 (1-2): 3-11
• Requirement of human chromosomes 19, 6 and possibly 3 for infection of hamster x human hybrid cells with baboon M7 type C virus. Brown S,  Oie HK, Gazdar AF, Minna JD, Francke U.  Cell.  1979; 18 (1): 135-43
• Assignment of the gene for cytoplasmic superoxide dismutase (Sod-1) to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse. Francke U,  Taggart RT.  Proc Natl Acad Sci U S A.  1979; 76 (10): 5230-3
• Localisation of the G gamma-, A gamma-, delta- and beta-globin genes on the short arm of human chromosome 11. Jeffreys AJ,  Craig IW, Francke U.  Nature.  1979; 281 (5732): 606-8
• Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Bakay B,  Nissinen E, Sweetman L, Francke U, Nyhan WL.  Pediatr Res.  1979; 13 (12): 1365-70
• Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Francke U,  Holmes LB, Atkins L, Riccardi VM.  Cytogenet Cell Genet.  1979; 24 (3): 185-92
• Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS). Francke U,  Opitz JM.  J Pediatr.  1979; 95 (1): 161-3
• Comparative gene mapping in man and mouse: assignment of the genes for lactate dehydrogenase-A, peptidase-D, and isocitrate dehydrogenase-2 to mouse chromosome 7. Lalley PA,  Francke U, Minna JD.  Cytogenet Cell Genet.  1978; 22 (1-6): 577-80
• The genes coding for pyruvate kinase (M2) and mannosephosphate isomerase are linked in man and mouse. Lalley PA,  Francke U, Minna JD.  Cytogenet Cell Genet.  1978; 22 (1-6): 581-4
• Ideograms of high-resolution trypsin-Giemsa banded human chromosomes. Oliver N,  Francke U.  Cytogenet Cell Genet.  1978; 22 (1-6): 668-71
• Assignment of a Mus musculus gene for triosephosphate isomerase to chromosome 6 and for glyoxalase-I to chromosome 17 using somatic cell hybrids. Minna JD,  Bruns GA, Krinsky AH, Lalley PA, Francke U, Gerald PS.  Somatic Cell Genet.  1978; 4 (2): 241-52
• Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Riccardi VM,  Sujansky E, Smith AC, Francke U.  Pediatrics.  1978; 61 (4): 604-10
• Homologous genes for enolase, phosphogluconate dehydrogenase, phosphoglucomutase, and adenylate kinase are syntenic on mouse chromosome 4 and human chromosome 1p. Lalley PA,  Francke U, Minna JD.  Proc Natl Acad Sci U S A.  1978; 75 (5): 2382-6
• Silver staining studies on the short arm variant of human chromosome 17. Oliver N,  Francke U, Taylor KM.  Hum Genet.  1978; 42 (1): 79-82
• Mouse chromosome 5 codes for ecotropic murine leukaemia virus cell-surface receptor. Oie HK,  Gazdar AF, Lalley PA, Russell EK, Minna JD, DeLarco J, Todaro GJ, Francke U.  Nature.  1978; 274 (5666): 60-2
• Conservation of autosomal gene synteny groups in mouse and man. Lalley PA,  Minna JD, Francke U.  Nature.  1978; 274 (5667): 160-3
• Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Francke U,  Oliver N.  Hum Genet.  1978; 45 (2): 137-65
• Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level. Francke U,  Hum Genet.  1978; 45 (3): 363-7
• Comparative gene mapping: the linkage relationships of the homologous genes for phosphoglucomutase and peptidase S are conserved in man and mouse. Lalley PA,  Francke U, Minna JD.  Cytogenet Cell Genet.  1978; 22 (1-6): 573-6
• Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta 2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier. Oliver N,  Francke U, Pellegrino MA.  Cytogenet Cell Genet.  1978; 22 (1-6): 506-10
• Regional mapping on human genes for phosphoglucomutase-1 on chromosome 1 and beta-glucuronidase on chromosome 7 using mouse x human hybrids. George DL,  Francke U.  Hum Hered.  1978; 28 (3): 161-70
• Assignment of a gene required for infection with endogenous baboon virus to human chromosome 19. Brown S,  Oie H, Francke U, Gazdar AF, Minna JD.  Cytogenet Cell Genet.  1978; 22 (1-6): 239-42
• Precise mapping of genes for phosphoglucomutase-1 and uridine monophosphate kinase on the short arm of human chromosome 1. Francke U,  George DL.  Cytogenet Cell Genet.  1978; 22 (1-6): 384-8
• Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p),dup(2q),dup(3p),dup(3q). Francke U,  Birth Defects Orig Artic Ser.  1978; 14 (6C): 191-217
• Regional assignment of genes for phosphoglucomutase2 and peptidase S to 4pter leads to 4q21 in man. Francke U,  Brown S.  Cytogenet Cell Genet.  1978; 22 (1-6): 401-5
• Evidence for localization of the gene for hexosaminidase B to the cen leads to q13 region of human chromosome 5 using mouse x human hybrid cells. George DL,  Francke U.  Cytogenet Cell Genet.  1978; 22 (1-6): 408-11
• Regional mapping of beta-glucuronidase (beta GUS) on human chromosome 7. George DL,  Francke U.  Cytogenet Cell Genet.  1978; 22 (1-6): 437-40
• Assignment of the genes coding for pyrophosphatase and hexokinase-1 to mouse chromosome 10: implications for comparative gene mapping in man and mouse. Lalley PA,  Francke U, Minna JD.  Cytogenet Cell Genet.  1978; 22 (1-6): 570-2
• Congenital anomalies including the VATER association in a patient with del(6)q deletion. McNeal RM,  Skoglund RR, Francke U.  J Pediatr.  1977; 91 (6): 957-60
• Cytogenetics and somatic cell genetics: the impact of chromosome banding. Francke U,  Birth Defects Orig Artic Ser.  1977; 13 (6): 79-103
• Intrachromosomal gene mapping in man: the gene for tryptophyl-tRNA synthetase maps in region q21 leads to qter of chromosome 14. Francke U,  Denney RM, Ruddle FH.  Somatic Cell Genet.  1977; 3 (4): 381-9
• Familial trisomy 20p five cases and two carriers in three generations a review. Centerwall W,  Francke U.  Ann Genet.  1977; 20 (2): 77-83
• Answer to criticism of Morton and Lalouel. Francke U,  Felsenstein J, Gartler SM, Nyhan WL, Seegmiller JE.  Am J Hum Genet.  1977; 29 (3): 307-311
• Gene mapping in Mus musculus by interspecific cell hybridization: assignment of the genes for tripeptidase-1 to chromosome 10, dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome 12, and adenylate kinase-1 to chromosome 2. Francke U,  Lalley PA, Moss W, Ivy J, Minna JD.  Cytogenet Cell Genet.  1977; 19 (2-3): 57-84
• Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Francke U,  George DL, Brown MG, Riccardi VM.  Cytogenet Cell Genet.  1977; 19 (4): 197-207
• Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q. Taylor KM,  Francke U, Brown MG, George DL, Kaufhold M.  Am J Med Genet.  1977; 1 (1): 3-19
• Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. Bakay B,  Francke U, Nyhan WL, Seegmiller JE.  Adv Exp Med Biol.  1977; 76A 351-8
• The pallister mosaic syndrome. Pallister PD,  Meisner LF, Elejalde BR, Francke U, Herrmann J, Spranger J, Tiddy W, Inhorn SL, Opitz JM.  Birth Defects Orig Artic Ser.  1977; 13 (3B): 103-110
• Duplication 11 (q21 to 23 leads to qter) syndrome. Francke U,  Weber F, Sparkes RS, Mattson PD, Mann J.  Birth Defects Orig Artic Ser.  1977; 13 (3B): 167-86
• Proximal 4p-deletion: phenotype differs from classical 4p-syndrome. Francke U,  Arias DE, Nyham WL.  J Pediatr.  1977; 90 (2): 250-2
• Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6. Francke U,  Pellegrino MA.  Proc Natl Acad Sci U S A.  1977; 74 (3): 1147-51
• Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat. Sparkes RS,  Francke U, Muller H, Toomey K.  Ann Genet.  1977; 20 (1): 31-5
• Regional mapping of human genes for hexosaminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse X human hybrid cells. George DL,  Francke U.  Somatic Cell Genet.  1977; 3 (6): 629-38
• Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11. Busby N,  Courval J, Francke U.  Cytogenet Cell Genet.  1976; 16 (1-5): 105-7
• The gene for the species antigen on human chromosome 11 is on the short arm. Buck DW,  Bodmer WF, Bobrow M, Francke U.  Cytogenet Cell Genet.  1976; 16 (1-5): 97-8
• Gene dose effect: regional mapping of human nuceloside phosphorylase on chromosome 14. George DL,  Francke U.  Science.  1976; 194 (4267): 851-2
• The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. Francke U,  Jones KL.  Am J Dis Child.  1976; 130 (11): 1244-9
• Comparative mapping using somatic cell hybrids. Minna JD,  Lalley PA, Francke U.  In Vitro.  1976; 12 (11): 726-33
• Partial trisomy 20p derived from a t(18;20) translocation. Taylor KM,  Wolfinger HL, Brown MG, Chadwick DL, Francke U.  Hum Genet.  1976; 34 (2): 155-62
• The human gene for beta glucuronidase is on chromosome 7. Francke U,  Am J Hum Genet.  1976; 28 (4): 357-62
• A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. Keller MA,  Jones KL, Nyhan WL, Francke U, Dixson B.  J Pediatr.  1976; 88 (4 Pt. 1): 589-91
• The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Francke U,  Felsenstein J, Gartler SM, Migeon BR, Dancis J, Seegmiller JE, Bakay F, Nyhan WL.  Am J Hum Genet.  1976; 28 (2): 123-37
• The gene for the species antigen on human chromosome 11 is on the short arm. Buck DW,  Bodmer WF, Bobrow M, Francke U.  Birth Defects Orig Artic Ser.  1976; 12 (7): 97-8
• Retinoblastoma and chromosome 13. Francke U,  Birth Defects Orig Artic Ser.  1976; 12 (7): 131-4
• Regional assignments of the genes for fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal acid phosphatase and esterase A4 on chromosome 11. Busby N,  Courval J, Francke U.  Birth Defects Orig Artic Ser.  1976; 12 (7): 105-7
• Gene dose effect: regional mapping of human glutathione reductase on chromosome 8. George DL,  Francke U.  Cytogenet Cell Genet.  1976; 17 (5): 282-6
• Sporadic bilateral retinoblastoma and 13q- chromosomal deletion. Francke U,  Kung F.  Med Pediatr Oncol.  1976; 2 (4): 379-85
• Retinoblastoma and chromosome 13. Francke U,  Cytogenet Cell Genet.  1976; 16 (1-5): 131-4
• Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen leads to 14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Francke U,  Busby N, Shaw D, Hansen S, Brown MG.  Somatic Cell Genet.  1976; 2 (1): 27-40
• Assignment of the nucleoside phosphorylase (NP) gene locus to region 14pter leads to 14q21. Francke U,  Busby N, Shaw D, Hansen S, Brown MG.  Cytogenet Cell Genet.  1976; 16 (1-5): 135-7
• Prenatal diagnosis of trisomy 9. Francke U,  Benirschke K, Jones OW.  Humangenetik.  1975; 29 (3): 243-50
• Half chromatid mutations: transmission in humans? Gartler SM,  Francke U.  Am J Hum Genet.  1975; 27 (2): 218-23
• Trisomy 14q-. Fawcett WA,  McCord WK, Francke U.  Birth Defects Orig Artic Ser.  1975; 11 (5): 223-8
• 10p-: a new autosomal deletion syndrome? Francke U,  Mahan GM, Dixson BK, Jones OW.  Birth Defects Orig Artic Ser.  1975; 11 (5): 207-12
• Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions. Francke U,  Busby N.  Birth Defects Orig Artic Ser.  1975; 11 (3): 143-9
• Regional localization of the human genes for malate dehydrogenase-1 and isocitrate dehydrogenase-1 on chromosome 2 by interspecific hybridization using human cells with the balanced reciprocal translocation t(1;2) (q32;q13). Francke U,  Cytogenet Cell Genet.  1975; 14 (3-6): 308-12
• Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. Francke U,  Kernahan C, Bradshaw C.  Humangenetik.  1975; 26 (4): 343-51
• Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions. Francke U,  Busby N.  Cytogenet Cell Genet.  1975; 14 (3-6): 313-9
• Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes. Francke U,  Bakay B, Connor JD, Coldwell JG, Nyhan WL.  Am J Hum Genet.  1974; 26 (4): 512-22
• Modes of growth and spread of a transplantable, virus-producing murine (Moloney) sarcoma: karyotypic analyses. Russell SW,  Francke U, Buettner L, Cochrane CG.  J Natl Cancer Inst.  1974; 53 (3): 801-6
• Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation. Schrott HG,  Sakaguchi S, Francke U, Luzzatti L, Fialkow PJ.  J Med Genet.  1974; 11 (2): 201-5
• Properties of cystinotic fibroblast-D98 cell hybrids studied by somatic cell hybridization. Schneider JA,  Francke U, Hammond DS, Pell