Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Shymaa H Hussein"'
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Akademický článek
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
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
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2
Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant
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
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3
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
Autor: Maha M. Eid, Usama Abdelfattah, Mohab Abdulkafy Sharafuddin, Yasser M El Halafawy, Tarek Elbanoby, Aida M Mossaad, Shymaa H Hussein, Ghada M H Abdel-Salam, Ola M. Eid, Amal M. Mohamed
Publikováno v: Cytogenetic and Genome Research. 160:124-133
Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chrom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49eac3b0132f18ea5a1c29236a2a574
https://doi.org/10.1159/000506430
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4
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
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
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
Zobrazit plný text záznamu

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