El-Ruby MO - Search Results

1

Phenotypic characterization of rare interstitial deletion of chromosome 4.

Ismail S, Helmy NA, Mahmoud WM, El-Ruby MO. Ismail S, et al. J Pediatr Genet. 2012 Sep;1(3):189-94. doi: 10.3233/PGE-2012-029. J Pediatr Genet. 2012. PMID: 27625821 Free PMC article.

2

Phenotypic and cytogenetic spectrum of 9p trisomy.

Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM. Temtamy SA, et al. Genet Couns. 2007;18(1):29-48. Genet Couns. 2007. PMID: 17515299

3

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El-Kamah GY, El-Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA. Afifi HH, et al. Bratisl Lek Listy. 2010;111(2):62-9. Bratisl Lek Listy. 2010. PMID: 20429316

4

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

5

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.

Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA. Ismail S, et al. Genet Couns. 2016;27(3):305-323. Genet Couns. 2016. PMID: 30204960

6

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. Among authors: el ruby mo. 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

7

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.

Mekkawy MK, Kamel AK, Thomas MM, Ashaat EA, Zaki MS, Eid OM, Ismail S, Hammad SA, Megahed H, ElAwady H, Refaat KM, Hussien S, Helmy N, Abd Allah SG, Mohamed AM, El Ruby MO. Mekkawy MK, et al. Among authors: el ruby mo. Mol Genet Genomic Med. 2021 Feb;9(2):e1546. doi: 10.1002/mgg3.1546. Epub 2020 Nov 20. Mol Genet Genomic Med. 2021. PMID: 33217222 Free PMC article. Review.

8

Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.

Refaat K, Helmy N, Elawady M, El Ruby M, Kamel A, Mekkawy M, Ashaat E, Eid O, Mohamed A, Rady M. Refaat K, et al. Mol Syndromol. 2021 Apr;12(2):87-95. doi: 10.1159/000513313. Epub 2021 Mar 1. Mol Syndromol. 2021. PMID: 34012377 Free PMC article.

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. Among authors: el ruby mo. 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

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Mohamed AM, Kamel AK, Eid MM, Eid OM, Mekkawy M, Hussein SH, Zaki MS, Esmail S, Afifi HH, El-Kamah GY, Otaify GA, El-Awady HA, Elaidy A, Essa MY, El-Ruby M, Ashaat EA, Hammad SA, Mazen I, Abdel-Salam GMH, Aglan M, Temtamy S. Mohamed AM, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1829. doi: 10.1002/mgg3.1829. Epub 2021 Oct 5. Mol Genet Genomic Med. 2021. PMID: 34609792 Free PMC article.

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