Khan MA - Search Results

1

Outcome associated with EPCAM founder mutation c.499dup in Qatar.

Hassan K, Sher G, Hamid E, Hazima KA, Abdelrahman H, Al Mudahka F, Al-Masri W, Sankar J, Daryaee M, Shawish R, Khan MA, Nawaz Z. Hassan K, et al. Among authors: khan ma. Eur J Med Genet. 2020 Oct;63(10):104023. doi: 10.1016/j.ejmg.2020.104023. Epub 2020 Jul 28. Eur J Med Genet. 2020. PMID: 32735948

2

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.

3

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.

4

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.

5

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.

6

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.

7

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z. Khan MA, et al. Among authors: khan s. J Genet. 2017 Jun;96(2):383-387. doi: 10.1007/s12041-017-0759-x. J Genet. 2017. PMID: 28674240 Free article.

8

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

Qasim I, Ahmad B, Khan MA, Khan N, Muhammad N, Basit S, Khan S. Qasim I, et al. Among authors: khan s, khan n, khan ma. Eur J Med Genet. 2018 Apr;61(4):204-208. doi: 10.1016/j.ejmg.2017.11.015. Epub 2017 Dec 7. Eur J Med Genet. 2018. PMID: 29223505

9

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA. Gul H, et al. Among authors: khan s, khan e, khan ma. Ann Hum Genet. 2019 Jul;83(4):278-284. doi: 10.1111/ahg.12307. Epub 2019 Mar 13. Ann Hum Genet. 2019. PMID: 30868578

10

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: khan ma. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 Free PMC article.

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