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Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Ahmed HA, El-Kamah GY, Rabie E, Mostafa MI, Abouzaid MR, Hassib NF, Mehrez MI, Abdel-Kader MA, Mohsen YH, Zada SK, Amr KS, Sayed ISM. Ahmed HA, et al. Among authors: sayed ism. Genes (Basel). 2021 Sep 8;12(9):1389. doi: 10.3390/genes12091389. Genes (Basel). 2021. PMID: 34573371 Free PMC article.
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. Among authors: sayed ism. 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
Phenotypic and molecular insights into PQBP1-related intellectual disability.
Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N. Abdel-Salam GMH, et al. Among authors: sayed ism. Am J Med Genet A. 2018 Nov;176(11):2446-2450. doi: 10.1002/ajmg.a.40479. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244542
KBG syndrome in two patients from Egypt.
Sayed ISM, Abdel-Hamid MS, Abdel-Salam GMH. Sayed ISM, et al. Am J Med Genet A. 2020 Jun;182(6):1309-1312. doi: 10.1002/ajmg.a.61552. Epub 2020 Mar 28. Am J Med Genet A. 2020. PMID: 32222090
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Khairat R, Elhossini R, Sobreira N, Wohler E, Otaify G, Mohamed AM, Abdel Raouf ER, Sayed I, Aglan M, Ismail S, Temtamy SA. Khairat R, et al. Eur J Med Genet. 2022 Jan;65(1):104377. doi: 10.1016/j.ejmg.2021.104377. Epub 2021 Nov 5. Eur J Med Genet. 2022. PMID: 34748996
13 results