Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Alaa K. Kamel"'
Autor:
Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide
Externí odkaz:
https://doaj.org/article/1c67282c8740459d9ef6171ea075d21b
Autor:
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Me
Externí odkaz:
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
Mona K. Mekkawy, Alaa K. Kamel, Manal M. Thomas, Engy A. Ashaat, Maha S. Zaki, Ola M. Eid, Samira Ismail, Saida A. Hammad, Hisham Megahed, Heba ElAwady, Khaled M. Refaat, Shymaa Hussien, Nivine Helmy, Sally G. Abd Allah, Amal M. Mohamed, Mona O. El Ruby
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. Methods W
Externí odkaz:
https://doaj.org/article/cfd0db8f10ef41f3ad524533549fc2ed
Autor:
Nivine A. Helmy, Mervat Rady, Alaa K. Kamel, Mohamed El-Awady, Mona O. El Ruby, Mona K. Mekkawy, Khaled M Refaat, Ola M. Eid, Amal M. Mohamed, Engy A. Ashaat
Publikováno v:
Molecular Syndromology. 12:87-95
Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1053b21d18be4b1f71d5316a714d3b2
https://doi.org/10.1159/000513313
https://doi.org/10.1159/000513313
Autor:
Rania M. A. Abdel kader, Marwa Farid, Maha M. Eid, Mona K. Mekkawy, Inas Mazen, Amany H. Abdelrahman, Ola M. Eid, Hala T. El-Bassyouni, Alaa K. Kamel, Rana Mahrous
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide. Several
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c813177d98ad4a540a3476dd59aa3c
http://link.springer.com/article/10.1186/s43042-020-00090-4
http://link.springer.com/article/10.1186/s43042-020-00090-4
Autor:
Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f28b185a9a5aeb46bd22dbfa6cc25dd
https://doi.org/10.1073/pnas.1921676117
https://doi.org/10.1073/pnas.1921676117
Autor:
Hanan H. Afifi, Ghada El-Kamah, Shymaa H Hussein, Alaa K. Kamel, Sayda Hammad, Amal M. Mohamed, Mohammed M. Sayed-Ahmed, Sally G. Abd Allah
Publikováno v:
J Pediatr Genet
Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43fd75b1830219d3d407c2ad7671e087
https://doi.org/10.1055/s-0040-1708554
https://doi.org/10.1055/s-0040-1708554
Publikováno v:
Journal of Environmental Science. 48:21-37
The phenotype of Disorders of Sex Development (DSD)patients depends on many factors including the presence of Copy Number Variation (CNVs) of different genes. The unbalanced rearrangement and the presence of deletions or duplications affect dramatica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfbaf20d7b43d99345ea46cac159d442
https://doi.org/10.21608/jes.2019.160148
https://doi.org/10.21608/jes.2019.160148
Autor:
Maha M. Eid, Mahmoud Y Essa, Aya Elaidy, Alaa K. Kamel, Mona O. El-Ruby, Samia A. Temtamy, Saida A Hammad, Ghada A. Otaify, Samira Esmail, Ola M. Eid, Amal M. Mohamed, Maha S. Zaki, Engy A. Ashaat, Mona Aglan, Ghada El-Kamah, Mona K. Mekkawy, Hanan H. Afifi, Shymaa H Hussein, Inas Mazen, Heba ElAwady, Ghada M H Abdel-Salam
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b91fae0e36b4e8b127f3accb52d3f6e
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
Roxana Marino, Leila Fusee, Caroline Eozenou, Gabriela Guercio, Masomeh Askari, Anne Jørgensen, Mohseni Meybodi A, Mehdi Totonchi, Selma F. Witchel, Maria Sol Touzon, Joelle Bignon-Topalovic, Merel-Chali T, Alaa K. Kamel, Mariana Costanzo, Priti Singh, Svetlana A. Yatsenko, Balázs Gellén, Pablo Ramirez, Roberta Migale, Nitzan Gonen, Andrea J. Berman, Rana Mainpal
Publikováno v:
Yearbook of Paediatric Endocrinology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f95486437d117be986928b9c5f185f8d
https://doi.org/10.1530/ey.18.6.2
https://doi.org/10.1530/ey.18.6.2