Nasir A - Search Results

1

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Khan AK, Muhammad N, Khan SA, Ullah W, Nasir A, Afzal S, Ramzan K, Basit S, Khan S. Khan AK, et al. Among authors: nasir a. Ann Hum Genet. 2018 May;82(3):171-176. doi: 10.1111/ahg.12239. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282707

2

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Ali RH, Shah K, Nasir A, Steyaert W, Coucke PJ, Ahmad W. Ali RH, et al. Among authors: nasir a. Clin Genet. 2016 Sep;90(3):263-9. doi: 10.1111/cge.12700. Epub 2016 Jan 19. Clin Genet. 2016. PMID: 26612766

3

Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.

Ahmad F, Ali RH, Muhammad D, Nasir A, Umair M, Wakil SM, Ramzan K, Basit S, Ahmad W. Ahmad F, et al. Among authors: nasir a. Eur J Dermatol. 2016 Dec 1;26(6):610-612. doi: 10.1684/ejd.2016.2848. Eur J Dermatol. 2016. PMID: 27456782 No abstract available.

4

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Irfanullah; Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W. Irfanullah, et al. Among authors: nasir a. Am J Med Genet A. 2016 Dec;170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27570071

5

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: nasir a. 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.

6

A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.

Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S. Alharby E, et al. Among authors: nasir a. Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15. Clin Genet. 2017. PMID: 28542722

7

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ. Ullah MI, et al. Among authors: nasir a. Saudi Med J. 2017 Dec;38(12):1190-1195. doi: 10.15537/smj.2017.12.20989. Saudi Med J. 2017. PMID: 29209666 Free PMC article.

8

A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.

Shah K, Nasir A, Irfanullah, Shahzad S, Khan S, Ahmad W. Shah K, et al. Among authors: nasir a. Clin Exp Dermatol. 2016 Aug;41(6):675-679. doi: 10.1111/ced.12864. Epub 2016 Jul 5. Clin Exp Dermatol. 2016. PMID: 29226984

9

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

Ahmad F, Nasir A, Thiele H, Umair M, Borck G, Ahmad W. Ahmad F, et al. Among authors: nasir a. Ann Hum Genet. 2018 Jul;82(4):232-238. doi: 10.1111/ahg.12244. Epub 2018 Feb 12. Ann Hum Genet. 2018. PMID: 29430627

10

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA. Ullah MI, et al. Among authors: nasir a. BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x. BMC Med Genet. 2018. PMID: 29458334 Free PMC article.

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