Wali A - Search Results

1

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

Ali G, Sadia S, Ain-Ul-Batool S, Azeem Z, Awan NB, Kazmi SAR, Ur-Rehman Z, Anjum Z, Ur-Rehman F, Wali A, Khan K, Zaman N, Ayub M, Sajid M, Hassan N. Ali G, et al. Among authors: wali a. Genet Res (Camb). 2023 Oct 4;2023:9999660. doi: 10.1155/2023/9999660. eCollection 2023. Genet Res (Camb). 2023. PMID: 37829154 Free PMC article.

2

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.

Ali G, Sadia, Foo JN, Nasir A, Chang CH, Chew EG, Latif Z, Azeem Z, Ain-Ul-Batool S, Kazmi SAR, Awan NB, Khan AH, Rehman FU, Khalid M, Wali A, Sarwar S, Akhtar W, Ahmed Abbasi A, Nisar R. Ali G, et al. Among authors: wali a. Biomed Res Int. 2021 Feb 23;2021:6626015. doi: 10.1155/2021/6626015. eCollection 2021. Biomed Res Int. 2021. PMID: 33688495 Free PMC article.

3

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).

Azeem Z, Jelani M, Naz G, Tariq M, Wasif N, Kamran-Ul-Hassan Naqvi S, Ayub M, Yasinzai M, Amin-Ud-Din M, Wali A, Ali G, Chishti MS, Ahmad W. Azeem Z, et al. Among authors: wali a. Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. Hum Genet. 2008. PMID: 18461368

4

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W. Azeem Z, et al. Among authors: wali a. Arch Dermatol Res. 2009 Sep;301(8):625-9. doi: 10.1007/s00403-009-0975-1. Epub 2009 Jun 24. Arch Dermatol Res. 2009. PMID: 19551394

5

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32.

Wali A, Chishti M, Ayub M, Yasinzai M, Kafaitullah, Ali G, John P, Ahmad W. Wali A, et al. Clin Genet. 2007 Jul;72(1):23-9. doi: 10.1111/j.1399-0004.2007.00818.x. Clin Genet. 2007. PMID: 17594396

6

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: wali a. Int J Dermatol. 2019 Aug;58(8):946-952. doi: 10.1111/ijd.14480. Epub 2019 May 11. Int J Dermatol. 2019. PMID: 31077348

7

Ethnobotanical and Biochemical Study of Berberis lycium Royle Collected from Different Areas of Azad Jammu and Kashmir.

Fiaz Bukhari SM, Ali G, Abbas SR, Anjum Z, Ahmed N, Munir A, Wali A, Ayub M, Khan K, Khames A, Musthafa MM. Fiaz Bukhari SM, et al. Among authors: wali a. Evid Based Complement Alternat Med. 2021 Sep 25;2021:9916305. doi: 10.1155/2021/9916305. eCollection 2021. Evid Based Complement Alternat Med. 2021. PMID: 34616483 Free PMC article.

8

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Naz G, Khan B, Ali G, Azeem Z, Wali A, Ansar M, Ahmad W. Naz G, et al. Among authors: wali a. J Dermatol Sci. 2009 Apr;54(1):12-6. doi: 10.1016/j.jdermsci.2008.12.001. Epub 2009 Jan 23. J Dermatol Sci. 2009. PMID: 19167195

9

Sequencing and Characterization of Mitochondrial Protein-Coding Genes for Schizothorax niger (Cypriniformes: Cyprinidae) with Phylogenetic Consideration.

Akhtar T, Ali G, Shafi N, Akhtar W, Khan AH, Latif Z, Wali A, Ain-Ul-Batool S, Khan AR, Mumtaz S, Altaf SI, Khawaja S, Sadia, Khalid M, Rehman FU, Javid Q. Akhtar T, et al. Among authors: wali a. Biomed Res Int. 2020 Dec 7;2020:5980135. doi: 10.1155/2020/5980135. eCollection 2020. Biomed Res Int. 2020. PMID: 33490246 Free PMC article.

10

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A. Almazroea A, et al. Among authors: wali a. Medicina (Kaunas). 2023 Jan 2;59(1):103. doi: 10.3390/medicina59010103. Medicina (Kaunas). 2023. PMID: 36676727 Free PMC article.

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