Nasir A - Search Results

1

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: nasir a. J Hum Genet. 2020 Jan;65(2):187-192. doi: 10.1038/s10038-019-0691-4. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656313 Free PMC article.

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

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. Ahmad F, et al. Among authors: nasir a. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26691440 Free PMC article. No abstract available.

4

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.

5

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

6

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Umair M, Rafique A, Ullah A, Ahmad F, Ali RH, Nasir A, Ansar M, Ahmad W. Umair M, et al. Among authors: nasir a. Congenit Anom (Kyoto). 2017 Mar;57(2):45-51. doi: 10.1111/cga.12187. Congenit Anom (Kyoto). 2017. PMID: 27577507

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 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

10

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

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