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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. Scala M, et al. Among authors: riazuddin s. Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070. Brain. 2020. PMID: 32227164 Free PMC article. No abstract available.
Clinical manifestations of DFNB29 deafness.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Ahmed ZM, et al. Among authors: riazuddin s. Adv Otorhinolaryngol. 2002;61:156-60. doi: 10.1159/000066828. Adv Otorhinolaryngol. 2002. PMID: 12408079 No abstract available.
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Shabbir MI, et al. Among authors: riazuddin s. J Med Genet. 2006 Aug;43(8):634-40. doi: 10.1136/jmg.2005.039834. Epub 2006 Feb 3. J Med Genet. 2006. PMID: 16459341 Free PMC article.
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
Khan SY, Riazuddin S, Shahzad M, Ahmed N, Zafar AU, Rehman AU, Morell RJ, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. Khan SY, et al. Among authors: riazuddin s. Eur J Hum Genet. 2010 Jan;18(1):125-9. doi: 10.1038/ejhg.2009.121. Eur J Hum Genet. 2010. PMID: 19603065 Free PMC article.
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Rehman AU, et al. Among authors: riazuddin s. Am J Hum Genet. 2010 Mar 12;86(3):378-88. doi: 10.1016/j.ajhg.2010.01.030. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170899 Free PMC article.
390 results