Wali A - Search Results

1

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.

Ayub M, Xiong X, Anwer S, Altmüller J, Naeem M, Hassan N, Khan K, Motameny S, Khaliq S, Rehman FU, Uddin SA, Wali A, Betz R, Basit S. Ayub M, et al. Among authors: wali a. J Med Life. 2024 Sep;17(9):892-896. doi: 10.25122/jml-2024-0090. J Med Life. 2024. PMID: 39628969 Free PMC article.

2

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

Ijaz A, Wolf S, Mandukhail SR, Basit S, Betz RC, Wali A. Ijaz A, et al. Among authors: wali a. J Dermatol Sci. 2019 Sep;95(3):113-118. doi: 10.1016/j.jdermsci.2019.08.003. Epub 2019 Aug 9. J Dermatol Sci. 2019. PMID: 31421932

3

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

4

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.

Uddin SA, Cesarato N, Humbatova A, Schmidt A, urRehman F, Naeem M, Tareen AS, Wolf S, Panezai MA, Thiele H, Wali A, Fölster-Holst R, Basit S, Ayub M, Betz RC. Uddin SA, et al. Among authors: wali a. Acta Derm Venereol. 2020 Sep 30;100(16):adv00275. doi: 10.2340/00015555-3634. Acta Derm Venereol. 2020. PMID: 32926178 Free PMC article.

5

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.

6

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.

7

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Rafiullah R, Albalawi AM, Alaradi SR, Alluqmani M, Mushtaq M, Wali A, Basit S. Rafiullah R, et al. Among authors: wali a. J Neurogenet. 2022 Sep-Dec;36(4):108-114. doi: 10.1080/01677063.2022.2149748. Epub 2022 Dec 12. J Neurogenet. 2022. PMID: 36508181

8

A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.

Xiong X, Uddin SA, Munir S, Cesarato N, Thiele H, Hassan N, Kumar S, Rehman FU, Naeem M, Wali A, Basit S, Basmanav FB, Ayub M, Betz RC. Xiong X, et al. Among authors: wali a. Clin Exp Dermatol. 2023 Mar 22;48(4):434-437. doi: 10.1093/ced/llad042. Clin Exp Dermatol. 2023. PMID: 36750324 No abstract available.

9

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M. Kousar R, et al. Among authors: wali a. J Child Neurol. 2010 Jun;25(6):715-20. doi: 10.1177/0883073809346850. Epub 2009 Oct 6. J Child Neurol. 2010. PMID: 19808985

10

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W. Basit S, et al. Among authors: wali a. Clin Genet. 2011 Mar;79(3):273-81. doi: 10.1111/j.1399-0004.2010.01455.x. Clin Genet. 2011. PMID: 20528890

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