Khan MA - Search Results

1

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Muhammad N, Hussain SI, Rehman ZU, Khan SA, Jan S, Khan N, Muzammal M, Abbasi SW, Kakar N, Rehman ZU, Khan MA, Mirza MU, Muhammad N, Khan S, Wasif N. Muhammad N, et al. Among authors: khan s, khan n, khan ma, khan sa. Front Neurol. 2023 May 25;14:1168307. doi: 10.3389/fneur.2023.1168307. eCollection 2023. Front Neurol. 2023. PMID: 37305761 Free PMC article.

2

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.

3

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.

4

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.

5

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Gul H, Ali MZ, Khan E, Zubair M, Badar M, Khan S, Shah AH, Khan MA. Gul H, et al. Among authors: khan s, khan e, khan ma. J Pak Med Assoc. 2017 May;67(5):790-792. J Pak Med Assoc. 2017. PMID: 28507374

6

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

7

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

8

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.

9

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

Ahmed J, Windpassinger C, Salim M, Wiener M, Petek E, Schaflinger E, Taj S, Hussain S, Abbas S, Abbas M, Younis I, Muhammad N, Khan S, Khan MA. Ahmed J, et al. Among authors: khan s, khan ma. J Pak Med Assoc. 2019 Dec;69(12):1812-1816. doi: 10.5455/JPMA.300681. J Pak Med Assoc. 2019. PMID: 31853109

10

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.

Khan S, Khan AK, Hamid M, Nazif M, Abbas M, Khan SA, Khan B, Khan MA, Jan A, Khattak B, Ullah W, Muhammad N. Khan S, et al. Among authors: khan b, khan ma, khan sa, khan ak. J Pak Med Assoc. 2020 Jan;70(1):143-146. doi: 10.5455/JPMA.9200. J Pak Med Assoc. 2020. PMID: 31954040 Free article.

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