Zobrazeno 1 - 10 of 55 pro vyhledávání: '"Hanan H. Afifi"'
1
Akademický článek
Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children
Autor: Eman Eissa, Hanan H. Afifi, Assem M. Abo-Shanab, Manal M. Thomas, Mohamed B. Taher, Rania Kandil, Naglaa M. Kholoussi
Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and ka
Externí odkaz: https://doaj.org/article/764297d4e3f54bc293af097158dc7e57
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2
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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3
Akademický článek
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome
Autor: Mona L. Essawi, Manal F. Ismail, Hanan H. Afifi, Maha M. Kobesiy, Ahmed El Kotoury, Maged M. Barakat
Publikováno v: Journal of the Formosan Medical Association, Vol 112, Iss 11, Pp 707-712 (2013)
Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which enc
Externí odkaz: https://doaj.org/article/470f875572c54de1a87024d3323cfc10
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6
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies
Autor: Ghada M.H. Abdel-Salam, Hanan H. Afifi, Sahar N. Saleem, Mohamed I. Gadelhak, Manar A. El-Serafy, Inas S.M. Sayed, Mohamed S. Abdel-Hamid
Publikováno v: Molecular Syndromology. 13:389-396
Introduction: Pathogenic variants in the PIEZO family member 2 (PIEZO2) gene are known to cause Gordon syndrome (GS), Marden-Walker syndrome (MWS), and distal arthrogryposis type 5 (DA5). Out of these, MWS has a recognizable phenotype that can be dis
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d262717b206d449fabe0ffc9fc84ddf0
https://doi.org/10.1159/000523956
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7
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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8
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
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9
Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study
Autor: Hanan H. Afifi, Khaled R. Gaber, Manal M. Thomas, Mohamed B. Taher, Angie M.S. Tosson
Publikováno v: American journal of perinatology. 39(15)
Objective The aim of this study is to evaluate high-risk pregnant females' offspring as regard the presence of any medical condition, hereditary disorder, or major anomaly as well as to document parental sociodemographic characteristics and complianc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d55468ae6c3da442fd0e7fa450b35e
https://pubmed.ncbi.nlm.nih.gov/33636738
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