Almatrafi A - Search Results

1

Identification of a class of human cancer germline genes with transcriptional silencing refractory to the hypomethylating drug 5-aza-2'-deoxycytidine.

Almatrafi A, Feichtinger J, Vernon EG, Escobar NG, Wakeman JA, Larcombe LD, McFarlane RJ. Almatrafi A, et al. Oncoscience. 2014 Nov 10;1(11):745-50. doi: 10.18632/oncoscience.95. eCollection 2014. Oncoscience. 2014. PMID: 25594001 Free PMC article.

2

Meta-analysis of clinical data using human meiotic genes identifies a novel cohort of highly restricted cancer-specific marker genes.

Feichtinger J, Aldeailej I, Anderson R, Almutairi M, Almatrafi A, Alsiwiehri N, Griffiths K, Stuart N, Wakeman JA, Larcombe L, McFarlane RJ. Feichtinger J, et al. Among authors: almatrafi a. Oncotarget. 2012 Aug;3(8):843-53. doi: 10.18632/oncotarget.580. Oncotarget. 2012. PMID: 22918178 Free PMC article.

3

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. Hashmi JA, et al. Among authors: almatrafi am. Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28. Congenit Anom (Kyoto). 2018. PMID: 28419563

4

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Alzahrani FA, Ahmed F, Sharma M, Rehan M, Mahfuz M, Baeshen MN, Hawsawi Y, Almatrafi A, Alsagaby SA, Kamal MA, Warsi MK, Choudhry H, Jamal MS. Alzahrani FA, et al. Among authors: almatrafi a. Sci Rep. 2020 Jul 23;10(1):12377. doi: 10.1038/s41598-020-69033-8. Sci Rep. 2020. PMID: 32704157 Free PMC article.

5

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S. Hashmi JA, et al. Among authors: almatrafi a. Brain Dev. 2020 Sep;42(8):587-593. doi: 10.1016/j.braindev.2020.04.010. Epub 2020 May 10. Brain Dev. 2020. PMID: 32402540

6

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.

Assiry AA, Albalawi AM, Zafar MS, Khan SD, Ullah A, Almatrafi A, Ramzan K, Basit S. Assiry AA, et al. Among authors: almatrafi a. Sci Rep. 2019 Nov 11;9(1):16469. doi: 10.1038/s41598-019-52935-7. Sci Rep. 2019. PMID: 31712638 Free PMC article.

7

Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.

Almatrafi AM, Hibshi AM, Basit S. Almatrafi AM, et al. Biomedicines. 2024 Apr 3;12(4):785. doi: 10.3390/biomedicines12040785. Biomedicines. 2024. PMID: 38672141

8

Prevalence of Depression Among the Adult Population in Southwestern Saudi Arabia: A Cross-Sectional, Community-Based Study.

Odah M, Ewis A, Alkudaysi FM, Alhasani T, Alessi AA, AlKudaysi YMY, Alfaqih KAM, Alfaqih MAO, Almatrafi AA, Nmnkani AZ, Alzubaidi AS, Alothman AO, Alnashri AS, Almathami MM. Odah M, et al. Among authors: almatrafi aa. Cureus. 2024 Mar 13;16(3):e56081. doi: 10.7759/cureus.56081. eCollection 2024 Mar. Cureus. 2024. PMID: 38618376 Free PMC article.

9

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Almatrafi AM, Alluqmani MM, Basit S. Almatrafi AM, et al. Biomedicines. 2023 Nov 6;11(11):2983. doi: 10.3390/biomedicines11112983. Biomedicines. 2023. PMID: 38001983 Free PMC article.

10

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.

Mahrous NN, Jamous YF, Almatrafi AM, Fallatah DI, Theyab A, Alanati BH, Alsagaby SA, Alenazi MK, Khan MI, Hawsawi YM. Mahrous NN, et al. Among authors: almatrafi am. Biomedicines. 2023 Oct 12;11(10):2762. doi: 10.3390/biomedicines11102762. Biomedicines. 2023. PMID: 37893135 Free PMC article. Review.

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