Abdel-Hamid M - Search Results

1

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

Elaraby NM, Galal ER, Abdel-Hamid M, Elbendary HM, Elbadry M, Mekkawy MK, Ashaat NA, Mounir SM, Ashaat EA. Elaraby NM, et al. J Mol Neurosci. 2023 Aug;73(7-8):598-607. doi: 10.1007/s12031-023-02139-6. Epub 2023 Jul 20. J Mol Neurosci. 2023. PMID: 37470904 Free PMC article.

2

A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.

Mazen I, Soliman H, El-Gammal M, Torky A, Mekkawy M, Abdel-Hamid MS, Essawi M. Mazen I, et al. Horm Res Paediatr. 2014;82(6):411-4. doi: 10.1159/000360292. Epub 2014 Jul 16. Horm Res Paediatr. 2014. PMID: 25034089

3

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

4

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Zaki MS, Issa MY, Elbendary HM, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid MS. Zaki MS, et al. Clin Genet. 2018 Apr;93(4):905-912. doi: 10.1111/cge.13184. Epub 2018 Feb 11. Clin Genet. 2018. PMID: 29193034

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

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D, Elbendary HM, Gaber KR, Nabil A, Abdel-Hamid MS, Zaki MS, Gleeson JG. Issa MY, et al. BMC Med Genomics. 2020 May 13;13(1):68. doi: 10.1186/s12920-020-0714-1. BMC Med Genomics. 2020. PMID: 32404165 Free PMC article.

7

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, Abdel-Hamid MS. Zaki MS, et al. Am J Med Genet A. 2020 Dec;182(12):2857-2866. doi: 10.1002/ajmg.a.61857. Epub 2020 Sep 19. Am J Med Genet A. 2020. PMID: 32949109

8

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K. Mazen I, et al. Am J Med Genet A. 2021 Jun;185(6):1666-1677. doi: 10.1002/ajmg.a.62129. Epub 2021 Mar 19. Am J Med Genet A. 2021. PMID: 33742552

9

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Thomas MM, Ashaat EA, Otaify GA, Ismail S, Essawi ML, Abdel-Hamid MS, Hassan HA, Alsaiedi SA, Aglan M, El Ruby MO, Temtamy S. Thomas MM, et al. Mol Syndromol. 2021 Aug;12(5):279-288. doi: 10.1159/000516607. Epub 2021 Jul 22. Mol Syndromol. 2021. PMID: 34602954 Free PMC article.

10

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Elhossini RM, Abdel-Hamid MS, Ashaat E, Otaify GA, Dawoud H, Elshimy K, El Ruby M, Aglan M. Elhossini RM, et al. Congenit Anom (Kyoto). 2022 Mar;62(2):68-77. doi: 10.1111/cga.12457. Epub 2022 Jan 3. Congenit Anom (Kyoto). 2022. PMID: 34962003

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