Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

166 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: ahmed zm. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
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. Among authors: ahmed zm, ahmed z. 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.
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: ahmed zm. Nat Genet. 2000 Dec;26(4):431-4. doi: 10.1038/82558. Nat Genet. 2000. PMID: 11101839
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. Among authors: ahmed z. 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.
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Kurima K, et al. Among authors: ahmed zm. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
Clinical manifestations of DFNB29 deafness.
Ahmed ZM, Riazuddin S, Friedman TB, Riazuddin S, Wilcox ER, Griffith AJ. Ahmed ZM, et al. Adv Otorhinolaryngol. 2002;61:156-60. doi: 10.1159/000066828. Adv Otorhinolaryngol. 2002. PMID: 12408079 No abstract available.
Genetic modifiers of hereditary hearing loss.
Riazuddin S, Ahmed ZM, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Riazuddin S, et al. Among authors: ahmed zm. Adv Otorhinolaryngol. 2002;61:224-9. doi: 10.1159/000066813. Adv Otorhinolaryngol. 2002. PMID: 12408088 No abstract available.
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. 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.
The molecular genetics of Usher syndrome.
Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. Ahmed ZM, et al. Clin Genet. 2003 Jun;63(6):431-44. doi: 10.1034/j.1399-0004.2003.00109.x. Clin Genet. 2003. PMID: 12786748 Review.
166 results