Ali G - 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. 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. 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: ali g. 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

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W. Naz G, et al. Among authors: ali g. Hum Genet. 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9. Hum Genet. 2010. PMID: 20054564

5

A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.

Kamran-ul-Hassan Naqvi S, Azeem Z, Ali G, Ahmad W. Kamran-ul-Hassan Naqvi S, et al. Among authors: ali g. Arch Dermatol Res. 2010 Nov;302(9):701-3. doi: 10.1007/s00403-010-1035-6. Epub 2010 Feb 7. Arch Dermatol Res. 2010. PMID: 20140736

6

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

Ali G, Awan NB, Sadia, Khawaja AW, Foo JN, Khor CC, Chang CH, Chew EG, Kiani FR, Jelani M. Ali G, et al. J Gene Med. 2020 May;22(5):e3167. doi: 10.1002/jgm.3167. Epub 2020 Feb 17. J Gene Med. 2020. PMID: 32020700

7

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.

Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S. Ain Ul Batool S, et al. Among authors: ali g. Am J Med Genet A. 2022 Apr;188(4):1075-1082. doi: 10.1002/ajmg.a.62614. Epub 2021 Dec 17. Am J Med Genet A. 2022. PMID: 34918859

8

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: ali g. 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

9

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: ali g. 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.

10

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W. Hassan MJ, et al. Among authors: ali g. BMC Med Genet. 2007 Sep 1;8:58. doi: 10.1186/1471-2350-8-58. BMC Med Genet. 2007. PMID: 17764569 Free PMC article.

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