Almatrafi A - Search Results

1

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant.

Hashmi JA, Almatrafi A, Latif M, Nasir A, Basit S. Hashmi JA, et al. Among authors: almatrafi a. Eur J Med Genet. 2019 Feb;62(2):124-128. doi: 10.1016/j.ejmg.2018.06.013. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960047

2

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.

Almatrafi A, Alfadhli F, Khan YN, Afzal S, Hashmi JA, Ullah A, Albalawi AM, Basit S. Almatrafi A, et al. Genet Test Mol Biomarkers. 2019 May;23(5):310-315. doi: 10.1089/gtmb.2018.0301. Epub 2019 Mar 30. Genet Test Mol Biomarkers. 2019. PMID: 30932712

3

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

Almatrafi A, Umair M, Eldardear A, Al-Luqmani M, Hashmi JA, Albalawi AM, Alfadhel M, Ramzan K, Basit S. Almatrafi A, et al. J Gene Med. 2020 Aug;22(8):e3196. doi: 10.1002/jgm.3196. Epub 2020 Apr 16. J Gene Med. 2020. PMID: 32246862

4

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Albarry MA, Latif M, Alreheli AQ, Awadh MA, Almatrafi AM, Albalawi AM, Basit S. Albarry MA, et al. Among authors: almatrafi am. PLoS One. 2021 Feb 11;16(2):e0246607. doi: 10.1371/journal.pone.0246607. eCollection 2021. PLoS One. 2021. PMID: 33571247 Free PMC article.

5

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Almatrafi A, Hashmi JA, Fadhli F, Alharbi A, Afzal S, Ramzan K, Basit S. Almatrafi A, et al. Glob Med Genet. 2020 Dec;7(4):109-112. doi: 10.1055/s-0041-1722873. Epub 2021 Feb 1. Glob Med Genet. 2020. PMID: 33693443 Free PMC article.

6

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Albalawi AM, Hashmi JA, Alfadhli F, Almatrafi A, Ramzan K, Basit S. Albalawi AM, et al. Among authors: almatrafi a. Ann Dermatol. 2020 Feb;32(1):77-80. doi: 10.5021/ad.2020.32.1.77. Epub 2019 Dec 27. Ann Dermatol. 2020. PMID: 33911714 Free PMC article. No abstract available.

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: almatrafi a. 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

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Ullah A, Shah AA, Alluqmani M, Haider N, Aman H, Alfadhli F, Almatrafi AM, Albalawi AM, Krishin J, Ullah Khan F, Anjam BA, Abdullah, Lozano EP, Samad A, Ahmad W, Hansen T, Xia K, Basit S. Ullah A, et al. Among authors: almatrafi am. Int J Dev Neurosci. 2022 Dec;82(8):789-805. doi: 10.1002/jdn.10231. Epub 2022 Oct 11. Int J Dev Neurosci. 2022. PMID: 36181241

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

In silico drug repurposing using molecular docking and dynamics to target the protein interaction between the SARS-CoV-2 S-glycoprotein and the ACE2 receptor.

Hussein D, Almatrafi A, Gomaa M, Alhowsawi A, Almustafa S, Alsaihaty H, Alghamdi M. Hussein D, et al. Among authors: almatrafi a. F1000Res. 2024 Jul 26;12:1452. doi: 10.12688/f1000research.131508.2. eCollection 2023. F1000Res. 2024. PMID: 39474132 Free PMC article.

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