Karima Rafat
Overview
Explore the profile of Karima Rafat including associated specialties, affiliations and a list of published articles.
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Articles
11
Citations
34
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Recent Articles
1.
Sharaf-Eldin W, Rafat K, Issa M, Elbendary H, Eissa N, Hawaary B, et al.
J Mol Neurosci
. 2024 Oct;
74(4):93.
PMID: 39367186
Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe Ullrich congenital muscular dystrophy (UCMD) and the intermediate...
2.
Elkhateeb N, Issa M, Elbendary H, ElNaggar W, Ramadan A, Rafat K, et al.
Clin Genet
. 2024 Jan;
105(5):510-522.
PMID: 38221827
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated...
3.
Salpietro V, Maroofian R, Zaki M, Wangen J, Ciolfi A, Barresi S, et al.
Am J Hum Genet
. 2023 Dec;
111(1):200-210.
PMID: 38118446
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause...
4.
Rafat K, Abdel-Hamid M, Abdel-Salam G
Mol Syndromol
. 2023 Dec;
14(6):523-529.
PMID: 38058759
Introduction: We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant...
5.
Elbendary H, Marafi D, Saad A, Elhossini R, Duan R, Rafat K, et al.
Clin Genet
. 2023 May;
104(3):344-349.
PMID: 37157980
Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4)....
6.
Zaki M, Sharaf-Eldin W, Rafat K, Elbendary H, Kamel M, Elkhateeb N, et al.
Clin Genet
. 2023 Apr;
104(2):238-244.
PMID: 37055917
This study presents 46 patients from 23 unrelated Egyptian families with ALS2-related disorders without evidence of lower motor neuron involvement. Age at onset ranged from 10 months to 2.5 years,...
7.
Elhossini R, Elbendary H, Rafat K, Ghorab R, Abdel-Hamid M
Mol Genet Genomics
. 2023 Apr;
298(3):709-720.
PMID: 37010587
Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological abnormalities such as global developmental delay, spasticity and seizures. Herein,...
8.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta A, Marafi D, et al.
Genet Med
. 2022 Nov;
25(1):90-102.
PMID: 36318270
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this...
9.
Saad A, Marafi D, Mitani T, Du H, Rafat K, Fatih J, et al.
Am J Med Genet A
. 2021 Feb;
185(4):1288-1293.
PMID: 33544954
Alkylated DNA repair protein AlkB homolog 8 (ALKBH8) is a member of the AlkB family of dioxygenases. ALKBH8 is a methyltransferase of the highly variable wobble nucleoside position in the...
10.
Zaki M, Issa M, Thomas M, Elbendary H, Rafat K, Al Menabawy N, et al.
Neurol Sci
. 2020 Oct;
42(7):2737-2745.
PMID: 33123925
At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable...