Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
Zaki, Maha S., Otaify, Ghada A., Ismail, Samira, Issa, Mahmoud Y., El‐Ruby, Mona O., Sadek, Abdelrahim A., Ashaat, Engy A., El Saeidi, Sonia A., Aglan, Mona S., Temtamy, Samia, Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls
Esmaiel, Nora N., Ashaat, Engy A., Al-Ettribi, Ghada M., Fayez, Alaaeldin, Alsaiedi, Sonia A., El Ruby, Mona O.
Published in Egyptian Journal of Medical Human Genetics (01.12.2023)
Published in Egyptian Journal of Medical Human Genetics (01.12.2023)
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Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
Published in Molecular genetics & genomic medicine (01.02.2021)
Published in Molecular genetics & genomic medicine (01.02.2021)
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New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects
Fayez, Alaaeldin G., Esmaiel, Nora N., Ashaat, Engy A., Refeat, Miral M., Lotfy, Randa S., Raouf, Haiam Abdel, El Ruby, Mona O.
Published in Journal of Taibah University Medical Sciences (01.12.2023)
Published in Journal of Taibah University Medical Sciences (01.12.2023)
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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
Fayez, Alaaeldin G., Esmaiel, Nora N., Salem, Sohair M., Ashaat, Engy A., El-Saiedi, Sonia A., El Ruby, Mona O.
Published in The Egyptian heart journal (08.09.2022)
Published in The Egyptian heart journal (08.09.2022)
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Journal Article
Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Abdel Megeid, Azza K., Refeat, Miral M., Ashaat, Engy A., El-Kamah, Ghada, El-Saiedi, Sonia A., Elfalaki, Mona M., El Ruby, Mona O., Amr, Khalda S.
Published in Journal of Genetic Engineering and Biotechnology (01.12.2022)
Published in Journal of Genetic Engineering and Biotechnology (01.12.2022)
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Journal Article
Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
Abdel Megeid, Azza K., Refeat, Miral M., Ashaat, Engy A., El-Kamah, Ghada, El-Saiedi, Sonia A., Elfalaki, Mona M., El Ruby, Mona O., Amr, Khalda S.
Published in Journal of Genetic Engineering and Biotechnology (01.12.2022)
Published in Journal of Genetic Engineering and Biotechnology (01.12.2022)
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Journal Article
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
Abdel‐Salam, Ghada M. H., Flores‐Sarnat, Laura, El‐Ruby, Mona O., Parboosingh, Jillian, Bridge, Peter, Eid, Maha M., El‐Badry, Tarek H., Effat, Laila, Curatolo, Paolo, Temtamy, Samia A.
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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Journal Article
Williams–Beuren syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Turner syndrome in diverse populations
Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations
Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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Journal Article
Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child
Ismail, Samira, Fayez, Alaaeldin, Otaify, Ghada A., Sayed, Inas, El Ruby, Mona O., Aglan, Mona S., Temtamy, Samia A.
Published in Middle East Journal of Medical Genetics (01.07.2017)
Published in Middle East Journal of Medical Genetics (01.07.2017)
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Journal Article
Human variome project country nodes: Documenting genetic information within a country
Patrinos, George P., Smith, Timothy D., Howard, Heather, Al-Mulla, Fahd, Chouchane, Lotfi, Hadjisavvas, Andreas, Hamed, Sherifa A., Li, Xi-Tao, Marafie, Makia, Ramesar, Rajkumar S., Ramos, Feliciano J., de Ravel, Thomy, El-Ruby, Mona O., Shrestha, Tilak Ram, Sobrido, María-Jesús, Tadmouri, Ghazi, Witsch-Baumgartner, Martina, Zilfalil, Bin Alwi, Auerbach, Arleen D., Carpenter, Kevin, Cutting, Garry R., Dung, Vu Chi, Grody, Wayne, Hasler, Julia, Jorde, Lynn, Kaput, Jim, Macek, Milan, Matsubara, Yoichi, Padilla, Carmancita, Robinson, Helen, Rojas-Martinez, Augusto, Taylor, Graham R., Vihinen, Mauno, Weber, Tom, Burn, John, Qi, Ming, Cotton, Richard G. H., Rimoin, David
Published in Human mutation (01.11.2012)
Published in Human mutation (01.11.2012)
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Journal Article
Phenotypic characterization of rare interstitial deletion of chromosome 4
Ismail, Samira, Helmy, Nivine A., Mahmoud, Wael M., El-Ruby, Mona O.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2012)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2012)
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Journal Article
Assessment of Pubertal Development in Egyptian Girls
Hosny, L A., El-Ruby, M.O., Zaki, M.E., Aglan, M.S., Zaki, M.S., El Gammal, M.A., Mazen, I.M.
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2005)
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2005)
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Journal Article
Rubinstein–Taybi syndrome in diverse populations
Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: Evidence provided via detecting novel nonsense mutation in an Egyptian family
Elbagoury, Nagham M., Ashaat, Engy A., Sharaf-Eldin, Wessam E., Hassib, Nehal, Ashaat, Neveen A., Youssef, Ragaey, El Ruby, Mona O., Esswai, Mona L.
Published in Human gene (Amsterdam, Netherlands) (01.12.2022)
Published in Human gene (Amsterdam, Netherlands) (01.12.2022)
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