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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.
Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Liang Y, et al. Among authors: lalwani ak. Am J Hum Genet. 1998 Apr;62(4):904-15. doi: 10.1086/301786. Am J Hum Genet. 1998. PMID: 9529344 Free PMC article.
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Among authors: lalwani ak. Nat Genet. 2000 Dec;26(4):431-4. doi: 10.1038/82558. Nat Genet. 2000. PMID: 11101839
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.
Wilcox ER, Everett LA, Li XC, Lalwani AK, Green ED. Wilcox ER, et al. Among authors: lalwani ak. Adv Otorhinolaryngol. 2000;56:145-51. doi: 10.1159/000059088. Adv Otorhinolaryngol. 2000. PMID: 10868226 Review. No abstract available.
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
Pusch CM, Meyer B, Kupka S, Smith RJ, Lalwani AK, Zenner HP, Blin N, Nürnberg P, Pfister M. Pusch CM, et al. Among authors: lalwani ak. J Mol Med (Berl). 2004 Jun;82(6):398-402. doi: 10.1007/s00109-004-0538-z. Epub 2004 Mar 24. J Mol Med (Berl). 2004. PMID: 15042303
307 results