Mirna Mustapha
Publications
- Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol. 2012; (2): 173-84
- High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers. 2010; (3): 307-11
- Deafness and permanently reduced potassium channel gene expression and function in hypothyroid Pit1dw mutants. J Neurosci. 2009; (4): 1212-23
- Complexity and integration in the control of inner-ear development. Genome Biol. 2007; (9): 315
- Whirler mutant hair cells have less severe pathology than shaker 2 or double mutants. J Assoc Res Otolaryngol. 2007; (3): 329-37
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003; (4): 421-8
- Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003; (5): 463-71
- A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet. 2002; (4): 348-50
- DFNB21. Adv Otorhinolaryngol. 2002: 153-5
- DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet. 2002; (3): 210-2
- Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. Eur J Hum Genet. 2002; (6): 391-4
- Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A. 2002; (9): 6240-5
- Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet. 2001; (10): E36
- Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Clin Genet. 2000; (6): 473-8
- A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999; (4): 363-9
- An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999; (3): 409-12
- Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Eur J Hum Genet. 1998 Nov-Dec; (6): 548-51
- A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36. Eur J Hum Genet. 1998 May-Jun; (3): 245-50
- Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. J Med Genet. 1998; (3): 202-4
- The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum Genet. 1998; (2): 193-8
- Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997; (12): 2173-7

