Wasif N - Search Results

1

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Parveen A, Mirza MU, Vanmeert M, Akhtar J, Bashir H, Khan S, Shehzad S, Froeyen M, Ahmed W, Ansar M, Wasif N. Parveen A, et al. Among authors: wasif n. Mol Genet Genomic Med. 2019 Sep;7(9):e902. doi: 10.1002/mgg3.902. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347285 Free PMC article.

2

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

Basit S, Naqvi SK, Wasif N, Ali G, Ansar M, Ahmad W. Basit S, et al. Among authors: wasif n. BMC Med Genet. 2008 Nov 27;9:102. doi: 10.1186/1471-2350-9-102. BMC Med Genet. 2008. PMID: 19038017 Free PMC article.

3

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W. Umm-E-Kalsoom, et al. Among authors: wasif n. Pediatr Int. 2010 Apr;52(2):240-6. doi: 10.1111/j.1442-200X.2009.02953.x. Epub 2009 Sep 7. Pediatr Int. 2010. PMID: 19744229

4

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Basit S, Ali G, Wasif N, Ansar M, Ahmad W. Basit S, et al. Among authors: wasif n. Hum Genet. 2010 Aug;128(2):213-20. doi: 10.1007/s00439-010-0847-y. Epub 2010 Jun 11. Hum Genet. 2010. PMID: 20544222

5

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Wasif N, Naqvi SK, Basit S, Ali N, Ansar M, Ahmad W. Wasif N, et al. Hum Genet. 2011 Apr;129(4):419-24. doi: 10.1007/s00439-010-0938-9. Epub 2010 Dec 28. Hum Genet. 2011. PMID: 21188418

6

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Khan S, Habib R, Mir H, Umm-e-Kalsoom, Naz G, Ayub M, Shafique S, Yamin T, Ali N, Basit S, Wasif N, Kamran-Ul-Hassan Naqvi S, Ali G, Wali A, Ansar M, Ahmad W. Khan S, et al. Among authors: wasif n. Clin Exp Dermatol. 2011 Aug;36(6):652-4. doi: 10.1111/j.1365-2230.2011.04014.x. Epub 2011 Mar 21. Clin Exp Dermatol. 2011. PMID: 21426374

7

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.

Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W. Kalsoom UE, et al. Among authors: wasif n. J Med Genet. 2013 Jan;50(1):47-53. doi: 10.1136/jmedgenet-2012-101219. Epub 2012 Nov 17. J Med Genet. 2013. PMID: 23160277

8

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.

Ali RH, Mahmood S, Raza SI, Aziz A, Irfanullah, Naqvi SK, Wasif N, Ansar M, Ahmad W, Shah SH, Khan BT, Zaman Q, Gul A, Wali A, Ali G, Khan S, Khisroon M, Basit S. Ali RH, et al. Among authors: wasif n. J Dermatol Sci. 2015 Dec;80(3):214-7. doi: 10.1016/j.jdermsci.2015.09.007. Epub 2015 Sep 28. J Dermatol Sci. 2015. PMID: 26481779 No abstract available.

9

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Ullah I, et al. Among authors: wasif n. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13. Hum Genet. 2019. PMID: 30982135 Free PMC article.

10

Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.

Umair M, Wasif N, Albalawi AM, Ramzan K, Alfadhel M, Ahmad W, Basit S. Umair M, et al. Among authors: wasif n. Mol Genet Genomic Med. 2019 Jul;7(7):e00627. doi: 10.1002/mgg3.627. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115189 Free PMC article.

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