Abdulkareem AA - Search Results

1

Adult-Onset Hereditary Spastic Paraplegia 15 in a Saudi Patient with A Compound Heterozygous Variant in the ZFYVE26Gene.

Algahtani H, Shirah B, Aljohani R, Alshehri A, Alqassas M, Abdulkareem AA, Naseer MI. Algahtani H, et al. Among authors: abdulkareem aa. Maedica (Bucur). 2022 Sep;17(3):730-734. doi: 10.26574/maedica.2022.17.3.730. Maedica (Bucur). 2022. PMID: 36540605 Free PMC article.

2

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.

Naseer MI, Rasool M, Abdulkareem AA, Bassiouni RI, Algahtani H, Chaudhary AG, Al-Qahtani MH. Naseer MI, et al. Among authors: abdulkareem aa. Neurosciences (Riyadh). 2018 Oct;23(4):347-350. doi: 10.17712/nsj.2018.4.20180095. Neurosciences (Riyadh). 2018. PMID: 30351297 Free PMC article.

3

Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families.

Naseer MI, Abdulkareem AA, Rasool M, Shirah B, Algahtani H, Muthaffar OY, Pushparaj PN. Naseer MI, et al. Among authors: abdulkareem aa. Saudi J Biol Sci. 2022 Jul;29(7):103309. doi: 10.1016/j.sjbs.2022.103309. Epub 2022 May 20. Saudi J Biol Sci. 2022. PMID: 35663845 Free PMC article.

4

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Naseer MI, Abdulkareem AA, Rasool M, Algahtani H, Muthaffar OY, Pushparaj PN. Naseer MI, et al. Among authors: abdulkareem aa. Front Pediatr. 2022 Jun 22;10:919996. doi: 10.3389/fped.2022.919996. eCollection 2022. Front Pediatr. 2022. PMID: 35813387 Free PMC article.

5

Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.

Algahtani H, Shirah B, Alshammari S, Alghamdi F, Abdulkareem AA, Naseer MI. Algahtani H, et al. Among authors: abdulkareem aa. Mov Disord Clin Pract. 2022 Jul 12;9(7):997-1002. doi: 10.1002/mdc3.13508. eCollection 2022 Oct. Mov Disord Clin Pract. 2022. PMID: 36247900 Free PMC article. No abstract available.

6

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI. Zaman Q, et al. Among authors: abdulkareem aa. Genes (Basel). 2023 Jan 5;14(1):145. doi: 10.3390/genes14010145. Genes (Basel). 2023. PMID: 36672886 Free PMC article.

7

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.

Zaman Q, Khan MA, Sahar K, Rehman G, Khan H, Rehman M, Najumuddin, Ahmad I, Tariq M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Faisal MS, Wasif N, Jelani M. Zaman Q, et al. Among authors: abdulkareem aa. Genes (Basel). 2023 Jan 27;14(2):328. doi: 10.3390/genes14020328. Genes (Basel). 2023. PMID: 36833258 Free PMC article.

8

Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome.

Abdulkareem AA, Shirah BH, Naseer MI. Abdulkareem AA, et al. Genes (Basel). 2023 Jan 30;14(2):354. doi: 10.3390/genes14020354. Genes (Basel). 2023. PMID: 36833282 Free PMC article.

9

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Bakar A, Shams S, Bibi N, Ullah A, Ahmad W, Jelani M, Muthaffar OY, Abdulkareem AA, Abujamel TS, Haque A, Naseer MI, Khan B. Bakar A, et al. Among authors: abdulkareem aa. Genes (Basel). 2023 Feb 17;14(2):510. doi: 10.3390/genes14020510. Genes (Basel). 2023. PMID: 36833437 Free PMC article.

10

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M. Zaman Q, et al. Among authors: abdulkareem aa. J Gene Med. 2023 Oct;25(10):e3522. doi: 10.1002/jgm.3522. Epub 2023 Apr 29. J Gene Med. 2023. PMID: 37119015

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