Chishti MS - Search Results

1

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics; Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Shah K, et al. Among authors: chishti ms. Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778. Int J Dermatol. 2017. PMID: 29130490 Free PMC article.

2

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B; University of Washington Center for Mendelian Genomics; Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Shah K, et al. Among authors: chishti ms. BMC Med Genet. 2016 Feb 16;17:13. doi: 10.1186/s12881-016-0275-5. BMC Med Genet. 2016. PMID: 26880286 Free PMC article.

3

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Chishti MS, Lee K, McDonald ML, Hassan MJ, Ansar M, Ahmad W, Leal SM. Chishti MS, et al. J Hum Genet. 2009 Mar;54(3):141-4. doi: 10.1038/jhg.2009.2. Epub 2009 Feb 20. J Hum Genet. 2009. PMID: 19229252 Free PMC article.

4

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

Jelani M, Chishti MS, Ahmad W. Jelani M, et al. Among authors: chishti ms. J Hum Genet. 2011 May;56(5):352-7. doi: 10.1038/jhg.2011.18. Epub 2011 Feb 24. J Hum Genet. 2011. PMID: 21346770

5

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

Chishti MS, Bhatti A, Tamim S, Lee K, McDonald ML, Leal SM, Ahmad W. Chishti MS, et al. J Hum Genet. 2008;53(2):101-105. doi: 10.1007/s10038-007-0209-3. Epub 2007 Dec 15. J Hum Genet. 2008. PMID: 18084694 Free PMC article.

6

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: chishti ms. Neurogenetics. 2006 May;7(2):105-10. doi: 10.1007/s10048-006-0042-4. Epub 2006 Apr 21. Neurogenetics. 2006. PMID: 16673149

7

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Hassan MJ, Chishti MS, Jamal SM, Tariq M, Ahmad W. Hassan MJ, et al. Among authors: chishti ms. Hum Genet. 2008 Feb;123(1):77-82. doi: 10.1007/s00439-007-0452-x. Epub 2007 Dec 11. Hum Genet. 2008. PMID: 18071751

8

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W. John P, et al. Among authors: chishti ms. Hum Genet. 2006 Jan;118(5):665-7. doi: 10.1007/s00439-005-0086-9. Epub 2005 Nov 5. Hum Genet. 2006. PMID: 16273389 Free PMC article.

9

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. 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

10

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: chishti ms. 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

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