Ahmad W - Search Results

1

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A. Khan S, et al. Among authors: ahmad w. BMC Med Genet. 2019 Dec 18;20(1):199. doi: 10.1186/s12881-019-0907-7. BMC Med Genet. 2019. PMID: 31852446 Free PMC article.

2

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH. Ahmad M, et al. Among authors: ahmad w. Am J Med Genet. 1998 Aug 6;78(5):468-73. Am J Med Genet. 1998. PMID: 9714015

3

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.

John P, Aslam M, Rafiq MA, Amin-ud-din M, Haque S, Ahmad W. John P, et al. Among authors: ahmad w. Arch Dermatol Res. 2005 Nov;297(5):226-30. doi: 10.1007/s00403-005-0593-5. Epub 2005 Nov 11. Arch Dermatol Res. 2005. PMID: 16211417

4

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W. Gul A, et al. Among authors: ahmad w. Neurogenetics. 2006 May;7(2):105-10. doi: 10.1007/s10048-006-0042-4. Epub 2006 Apr 21. Neurogenetics. 2006. PMID: 16673149

5

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. Gul A, et al. Among authors: ahmad w. J Hum Genet. 2006;51(9):760-764. doi: 10.1007/s10038-006-0017-1. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900296

6

A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.

Wali A, John P, Gul A, Lee K, Chishti MS, Ali G, Hassan MJ, Leal SM, Ahmad W. Wali A, et al. Among authors: ahmad w. Clin Genet. 2006 Sep;70(3):233-9. doi: 10.1111/j.1399-0004.2006.00661.x. Clin Genet. 2006. PMID: 16922726 Free PMC article.

7

A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.

Chishti MS, Muhammad D, Haider M, Ahmad W. Chishti MS, et al. Among authors: ahmad w. J Hum Genet. 2006;51(10):872-878. doi: 10.1007/s10038-006-0037-x. Epub 2006 Aug 24. J Hum Genet. 2006. PMID: 16932841

8

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

Naeem M, Jelani M, Lee K, Ali G, Chishti MS, Wali A, Gul A, John P, Hassan MJ, Leal SM, Ahmad W. Naeem M, et al. Among authors: ahmad w. Br J Dermatol. 2006 Dec;155(6):1184-90. doi: 10.1111/j.1365-2133.2006.07509.x. Br J Dermatol. 2006. PMID: 17107387 Free PMC article.

9

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.

Ali G, Chishti MS, Raza SI, John P, Ahmad W. Ali G, et al. Among authors: ahmad w. Hum Genet. 2007 May;121(3-4):319-25. doi: 10.1007/s00439-007-0344-0. Epub 2007 Feb 27. Hum Genet. 2007. PMID: 17333281

10

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W. Wali A, et al. Among authors: ahmad w. Clin Genet. 2007 Jul;72(1):23-9. doi: 10.1111/j.1399-0004.2007.00818.x. Clin Genet. 2007. PMID: 17594396

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