Abdel-Hamid MS - Search Results

1

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

2

AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.

Mazen I, Abdel Hamid MS, El-Gammal M, Aref A, Amr K. Mazen I, et al. Sex Dev. 2011;5(6):277-80. doi: 10.1159/000334854. Epub 2011 Dec 20. Sex Dev. 2011. PMID: 22188863

3

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K. Abdel-Salam GM, et al. Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581640

4

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Abdel-Salam GM, Abdel-Hamid MS, Saleem SN, Ahmed MK, Issa M, Effat LK, Kayed HF, Zaki MS, Gaber KR. Abdel-Salam GM, et al. Am J Med Genet A. 2012 Aug;158A(8):1823-31. doi: 10.1002/ajmg.a.35480. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786707

5

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. Abdel-Salam GM, et al. Am J Med Genet A. 2013 Aug;161A(8):1875-81. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794361

6

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Crow YJ, et al. Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22. Neuropediatrics. 2014. PMID: 25243380

7

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Abdel-Salam GM, Abdel-Hamid MS, El-Khayat HA, Eid OM, Saba S, Farag MK, Saleem SN, Gaber KR. Abdel-Salam GM, et al. Am J Med Genet A. 2015 May;167A(5):1089-99. doi: 10.1002/ajmg.a.37010. Epub 2015 Mar 10. Am J Med Genet A. 2015. PMID: 25755095

8

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Aglan M, et al. Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284319

9

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG. Zaki MS, et al. Ann Neurol. 2016 Jul;80(1):59-70. doi: 10.1002/ana.24678. Epub 2016 Jun 1. Ann Neurol. 2016. PMID: 27130255 Free PMC article.

10

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.

Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Abdel-Hamid MS, et al. Genet Couns. 2016;27(1):25-33. Genet Couns. 2016. PMID: 27192889

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