Abdel-Ghafar SF - Search Results

1

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. Elkhateeb N, et al. Among authors: abdel ghafar sf. Clin Genet. 2024 May;105(5):510-522. doi: 10.1111/cge.14481. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221827

2

Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS. Abdel-Hamid MS, et al. Clin Genet. 2018 Jan;93(1):84-91. doi: 10.1111/cge.13033. Epub 2017 Aug 4. Clin Genet. 2018. PMID: 28390064

3

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS. Abdel-Hamid MS, et al. Clin Genet. 2020 Nov;98(5):445-456. doi: 10.1111/cge.13825. Clin Genet. 2020. PMID: 32740904 Review.

4

Delineating the phenotype of PNPLA8-related mitochondriopathies.

Abdel-Hamid MS, Abdel-Salam GMH, Abdel-Ghafar SF, Zaki MS. Abdel-Hamid MS, et al. Among authors: abdel ghafar sf. Clin Genet. 2024 Jan;105(1):92-98. doi: 10.1111/cge.14421. Epub 2023 Sep 6. Clin Genet. 2024. PMID: 37671596

5

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Abdel-Hamid MS, Issa MY, Elbendary HM, Abdel-Ghafar SF, Rafaat K, Hosny H, Girgis M, Abdel-Salam GMH, Zaki MS. Abdel-Hamid MS, et al. J Hum Genet. 2019 Sep;64(9):859-865. doi: 10.1038/s10038-019-0637-x. Epub 2019 Jul 5. J Hum Genet. 2019. PMID: 31273323

6

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Abdel-Salam GMH, et al. Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267100

7

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Issa MY, Hafez MA, Mounir SM, Abdel Ghafar SF, Zaki MS, Abdel-Hamid MS. Issa MY, et al. Among authors: abdel ghafar sf. Am J Med Genet A. 2024 Feb;194(2):226-232. doi: 10.1002/ajmg.a.63425. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37798908

8

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.

Zaki MS, Abdel-Ghafar SF, Abdel-Hamid MS. Zaki MS, et al. Among authors: abdel ghafar sf. J Hum Genet. 2024 Feb;69(2):79-84. doi: 10.1038/s10038-023-01207-4. Epub 2023 Nov 29. J Hum Genet. 2024. PMID: 38017281 Free PMC article.

9

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

Otaify GA, Abdel-Hamid MS, Hassib NF, Elhossini RM, Abdel-Ghafar SF, Aglan MS. Otaify GA, et al. Among authors: abdel ghafar sf. Am J Med Genet A. 2022 Jun;188(6):1815-1825. doi: 10.1002/ajmg.a.62718. Epub 2022 Mar 12. Am J Med Genet A. 2022. PMID: 35278031

10

Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

Mazen IH, El-Gammal MA, Elaidy AA, Anwar GM, Ashaat EA, Abdel-Ghafar SF, Abdel-Hamid MS. Mazen IH, et al. Among authors: abdel ghafar sf. Mol Genet Genomics. 2023 Jul;298(4):919-929. doi: 10.1007/s00438-023-02025-1. Epub 2023 May 4. Mol Genet Genomics. 2023. PMID: 37140700 Review.

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