Publications by authors named "Mona El-Ruby"

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New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects.
Alaaeldin G Fayez, Nora N Esmaiel, Engy A Ashaat, Miral M Refeat, Randa S Lotfy

J Taibah Univ Med Sci· December 2023

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miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients.
Alaaeldin G Fayez, Nora N Esmaiel, Sohair M Salem, Engy A Ashaat, Sonia A El-Saiedi

Egypt Heart J· September 2022

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Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.
Azza K Abdel Megeid, Miral M Refeat, Engy A Ashaat, Ghada El-Kamah, Sonia A El-Saiedi

J Genet Eng Biotechnol· September 2022

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Correlating SFTPC gene variants to interstitial lung disease in Egyptian children.
Azza K Abdel Megeid, Miral M Refeat, Engy A Ashaat, Ghada El-Kamah, Sonia A El-Saiedi

J Genet Eng Biotechnol· August 2022

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Rasha Moheb Elhossini, Mohamed S Abdel-Hamid, Engy Ashaat, Ghada A Otaify, Heba Dawoud

Congenit Anom (Kyoto)· March 2022

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Amal M Mohamed, Alaa K Kamel, Maha M Eid, Ola M Eid, Mona Mekkawy, Mona El-Ruby

Mol Genet Genomic Med· November 2021

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous Mutations.
Manal M Thomas, Engy A Ashaat, Ghada A Otaify, Samira Ismail, Mona L Essawi

Mol Syndromol· August 2021

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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Inas Mazen, Mona Mekkawy, Alaa Kamel, Mona Essawi, Heba Hassan, Mona El-Ruby

Am J Med Genet A· June 2021

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Interstitial Deletion of 2q22.2q22.3 Involving the Entire Gene in a Case of Mowat-Wilson Syndrome.
Khaled Refaat, Nivine Helmy, Mohamed Elawady, Mona El Ruby, Alaa Kamel

Mol Syndromol· April 2021

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Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mona K Mekkawy, Alaa K Kamel, Manal M Thomas, Engy A Ashaat, Maha S Zaki

Mol Genet Genomic Med· February 2021

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Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Maha S Zaki, Ghada A Otaify, Samira Ismail, Mahmoud Y Issa, Mona O El-Ruby

Am J Med Genet A· December 2020

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Rubinstein-Taybi syndrome in diverse populations.
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga

Am J Med Genet A· December 2020

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Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.
Dalia F Hussen, Alaa K Kamel, Mona K Mekkawy, Engy A Ashaat, Mona O El Ruby

Mol Syndromol· December 2020

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Turner syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage

Am J Med Genet A· February 2020

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
Mona El-Ruby, Alaa El-Din Fayez, Sara H El-Dessouky, Mona S Aglan, Inas Mazen

Am J Med Genet A· May 2018

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Williams-Beuren syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt

Am J Med Genet A· May 2018

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Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
Inas Mazen, Heba Amin, Alaa Kamel, Mona El Ruby, Joelle Bignon-Topalovic

Sex Dev· November 2017

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Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Jerry W. Shay, Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mona El-Ruby

BMC Genomics· July 2016

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A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.
Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader

Biomed Res Int· February 2016

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Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A Otaify, Mona El-Ruby

Am J Med Genet A· December 2015

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Human Variome Project country nodes: documenting genetic information within a country.
George P Patrinos, Timothy D Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Mona O El-Ruby

Hum Mutat· November 2012

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Phenotypic characterization of rare interstitial deletion of chromosome 4.
Samira Ismail, Nivine A Helmy, Wael M Mahmoud, Mona O El-Ruby

J Pediatr Genet· September 2012

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Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).
Mona Mekkawy, Alaa Kamel, Mona El-Ruby, Amal Mohamed, Mona Essawi

Am J Med Genet A· July 2012

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Mutation (variation) databases and registries: a rationale for coordination of efforts.
Arleen D Auerbach, John Burn, Jean-Jacques Cassiman, Mireille Claustres, Richard G H Cotton, Mona El-Ruby

Nat Rev Genet· October 2011

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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
Ghada M H Abdel-Salam, Laura Flores-Sarnat, Mona O El-Ruby, Jillian Parboosingh, Peter Bridge

Am J Med Genet A· January 2011

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