Khan MA - Search Results

1

The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.

Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM. Khan MA, et al. Among authors: khan s. Ann Hum Genet. 2016 Nov;80(6):342-368. doi: 10.1111/ahg.12176. Ann Hum Genet. 2016. PMID: 27870114 Review.

2

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Rafiq MA, et al. Among authors: khan ma. Clin Genet. 2010 Nov;78(5):478-83. doi: 10.1111/j.1399-0004.2010.01405.x. Clin Genet. 2010. PMID: 20345473

3

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.

Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M. Khan MA, et al. BMC Med Genet. 2011 Apr 22;12:56. doi: 10.1186/1471-2350-12-56. BMC Med Genet. 2011. PMID: 21513506 Free PMC article.

4

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Rafiq MA, et al. Among authors: khan ma. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.

5

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Khan MA, et al. Among authors: khan fs. Am J Hum Genet. 2012 May 4;90(5):856-63. doi: 10.1016/j.ajhg.2012.03.023. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541562 Free PMC article.

6

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542

7

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

Khan MA, Rupp V, Khan MA, Khan MP, Ansar M, Windpassinger C. Khan MA, et al. Among authors: khan mp. J Genet. 2014 Aug;93(2):527-30. doi: 10.1007/s12041-014-0394-8. J Genet. 2014. PMID: 25189253 Free article. No abstract available.

8

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.

Khan MA, Mohan S, Zubair M, Windpassinger C. Khan MA, et al. BMC Med Genet. 2016 Feb 4;17:10. doi: 10.1186/s12881-016-0271-9. BMC Med Genet. 2016. PMID: 26846096 Free PMC article.

9

Genetics of human isolated acromesomelic dysplasia.

Khan S, Basit S, Khan MA, Muhammad N, Ahmad W. Khan S, et al. Among authors: khan ma. Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011. Epub 2016 Feb 27. Eur J Med Genet. 2016. PMID: 26926249 Review.

10

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Khan AK, Muhammad N, Aziz A, Khan SA, Shah K, Nasir A, Khan MA, Khan S. Khan AK, et al. Among authors: khan s, khan ma, khan sa. BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y. BMC Med Genet. 2017. PMID: 28403827 Free PMC article.

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