Shah K - Search Results

1

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.

Khan GM, Hassan N, Khan N, Humayun M, Khan K, Khaliq S, Rehman FU, Ahmed S, Shah K, Khan SA, Muhammad N, Wali A, Khan S, Basit S, Ayub M. Khan GM, et al. Among authors: shah k. Int J Dermatol. 2019 Aug;58(8):946-952. doi: 10.1111/ijd.14480. Epub 2019 May 11. Int J Dermatol. 2019. PMID: 31077348

2

Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.

Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA. Shah K, et al. Br J Dermatol. 2017 Aug;177(2):546-548. doi: 10.1111/bjd.15094. Epub 2017 Jun 22. Br J Dermatol. 2017. PMID: 27681482 No abstract available.

3

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: shah k. 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.

4

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.

Ahmad F, Sharif S, Furqan Ubaid M, Shah K, Khan MN, Umair M, Azeem Z, Ahmad W. Ahmad F, et al. Among authors: shah k. Congenit Anom (Kyoto). 2018 Jan;58(1):24-28. doi: 10.1111/cga.12226. Epub 2017 Jun 12. Congenit Anom (Kyoto). 2018. PMID: 28425126

5

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

Khan S, Ansar M, Khan AK, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Khan S, et al. Among authors: shah k. Br J Dermatol. 2018 Feb;178(2):556-558. doi: 10.1111/bjd.15661. Epub 2017 Dec 1. Br J Dermatol. 2018. PMID: 28504827 Free PMC article. No abstract available.

6

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W. Ullah A, et al. Among authors: shah k. Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017. Mol Vis. 2017. PMID: 28761321 Free PMC article.

7

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics; Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Shah K, et al. Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778. Int J Dermatol. 2017. PMID: 29130490 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. 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

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Ahmad F, Shah K, Umair M, Jan A, Irfanullah, Khan S, Muhammad D, Basit S, Wakil SM, Ramzan K, Ahmad W. Ahmad F, et al. Among authors: shah k. Clin Exp Dermatol. 2018 Aug;43(6):752-755. doi: 10.1111/ced.13610. Epub 2018 May 23. Clin Exp Dermatol. 2018. PMID: 29797489 No abstract available.

10

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.

Irfanullah, Zeb A, Shinwari N, Shah K, Gilani SZT, Khan S, Lee KW, Raza SI, Hussain S, Liaqat K, Ahmad W. Irfanullah, et al. Among authors: shah k. Int J Biochem Cell Biol. 2018 Sep;102:76-86. doi: 10.1016/j.biocel.2018.07.004. Epub 2018 Jul 18. Int J Biochem Cell Biol. 2018. PMID: 30016695

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