Chishti MS - Search Results

1

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.

2

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: chishti ms. 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

3

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

4

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W. Hassan MJ, et al. Among authors: chishti ms. BMC Med Genet. 2007 Sep 1;8:58. doi: 10.1186/1471-2350-8-58. BMC Med Genet. 2007. PMID: 17764569 Free PMC article.

5

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

6

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Azeem Z, et al. Among authors: chishti ms. Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. Hum Genet. 2008. PMID: 18461368

7

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.

8

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

9

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.

10

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

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