Ahmad J - Search Results

1

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.

Ijaz A, Basit S, Gul A, Batool L, Hussain A, Afzal S, Ramzan K, Ahmad J, Wali A. Ijaz A, et al. Among authors: ahmad j. Congenit Anom (Kyoto). 2019 Jan;59(1):18-21. doi: 10.1111/cga.12281. Epub 2018 Apr 15. Congenit Anom (Kyoto). 2019. PMID: 29569758

2

Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families.

Ijaz A, Jelani M, Panezai A, Rabbani T, Rasool IA, Ahmad J, Wali A. Ijaz A, et al. Among authors: ahmad j. Congenit Anom (Kyoto). 2019 Sep;59(5):179-180. doi: 10.1111/cga.12311. Epub 2018 Oct 12. Congenit Anom (Kyoto). 2019. PMID: 30270455 No abstract available.

3

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S. Ahmad J, et al. Hum Genet. 2005 Apr;116(5):407-12. doi: 10.1007/s00439-004-1247-y. Epub 2005 Feb 12. Hum Genet. 2005. PMID: 15711797

4

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S. Ramzan K, et al. Among authors: ahmad j. Hum Genet. 2005 Jan;116(1-2):17-22. doi: 10.1007/s00439-004-1205-8. Epub 2004 Nov 6. Hum Genet. 2005. PMID: 15538632

5

Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.

Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J. Shah SA, et al. Among authors: ahmad j. Clin Exp Dermatol. 2015 Oct;40(7):774-80. doi: 10.1111/ced.12612. Epub 2015 Feb 22. Clin Exp Dermatol. 2015. PMID: 25703744

6

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: ahmad j, ahmad w, ahmad a. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.

7

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Ahmad A, et al. Among authors: ahmad j. Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16. Mol Vis. 2011. PMID: 21850168 Free PMC article.

8

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J. Hussain R, et al. Among authors: ahmad j, ahmad a. Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5. Mol Biol Rep. 2012. PMID: 22219087

9

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.

Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G. Kakar N, et al. Among authors: ahmad j, ahmad a. Eur J Med Genet. 2012 Dec;55(12):727-31. doi: 10.1016/j.ejmg.2012.08.010. Epub 2012 Aug 30. Eur J Med Genet. 2012. PMID: 22989526

10

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J. Sajjad N, et al. Among authors: ahmad j. BMC Med Genet. 2008 Nov 11;9:99. doi: 10.1186/1471-2350-9-99. BMC Med Genet. 2008. PMID: 19014451 Free PMC article.

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