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Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: riazuddin sa, riazuddin s. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Ahmed ZM, et al. Am J Hum Genet. 2001 Jul;69(1):25-34. doi: 10.1086/321277. Epub 2001 Jun 7. Am J Hum Genet. 2001. PMID: 11398101 Free PMC article.
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. Park HJ, et al. J Med Genet. 2003 Apr;40(4):242-8. doi: 10.1136/jmg.40.4.242. J Med Genet. 2003. PMID: 12676893 Free PMC article.
Mutations of MYO6 are associated with recessive deafness, DFNB37.
Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Ahmed ZM, et al. Among authors: riazuddin s. Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687499 Free PMC article.
263 results