Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Mona O. El Ruby"'
Autor:
Alaaeldin G. Fayez, PhD, Nora N. Esmaiel, PhD, Engy A. Ashaat, MD, Miral M. Refeat, PhD, Randa S. Lotfy, PhD, Haiam Abdel Raouf, PhD, Mona O. El Ruby, MD
Publikováno v:
Journal of Taibah University Medical Sciences, Vol 18, Iss 6, Pp 1244-1253 (2023)
الملخص: أهداف البحث: عيوب القلب الوعائية وراثية بشكل كبير وحوالي ثلث عيوب القلب الخلقية ناتجة عن عيوب القلب الوعائية. باستخدام التحليل ال
Externí odkaz:
https://doaj.org/article/f6571d0689834dea90a62275742564a8
Autor:
Nora N. Esmaiel, Engy A. Ashaat, Ghada M. Al-Ettribi, Alaaeldin Fayez, Sonia A. Alsaiedi, Mona O. El Ruby
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this ass
Externí odkaz:
https://doaj.org/article/733048ae8f674a28a28798760e22813e
Autor:
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby
Publikováno v:
The Egyptian Heart Journal, Vol 74, Iss 1, Pp 1-10 (2022)
Abstract Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death. Most of the different etiologic factors which have been postulated to DCM are idiopathi
Externí odkaz:
https://doaj.org/article/78294392449e440f9e65ee669d4e1b76
Autor:
Azza K. Abdel Megeid, Miral M. Refeat, Engy A. Ashaat, Ghada El-Kamah, Sonia A. El-Saiedi, Mona M. Elfalaki, Mona O. El Ruby, Khalda S. Amr
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 20, Iss 1, Pp 1-9 (2022)
Abstract Background Interstitial lung disease (ILD) is a broad heterogeneous group of lung disorders that is characterized by inflammation of the lungs. Surfactant dysfunction disorders are a rare form of ILD diseases that result from mutations in su
Externí odkaz:
https://doaj.org/article/eb51ec2af8c04083a14fe99944b51368
Autor:
Azza K. Abdel Megeid, Miral M. Refeat, Engy A. Ashaat, Ghada El-Kamah, Sonia A. El-Saiedi, Mona M. Elfalaki, Mona O. El Ruby, Khalda S. Amr
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 20, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/bf19b7f959e24bafaa102528c90762f5
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:
Engy A. Ashaat, Khaled H. Taman, Naglaa Kholoussi, Mona O. El Ruby, Moushira Erfan Zaki, Maged A. El Wakeel, Neveen A. Ashaat, Samira Ismail Ibrahim
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 11, Iss 10, Pp SC14-SC17 (2017)
Introduction: There is a growing evidence of immune system alteration in children with Autism Spectrum Disorder (ASD). These changes may include higher levels of pro-inflammatory cytokines in plasma, Cerebrospinal Fluid (CSF) and brain cells. Aim: T
Externí odkaz:
https://doaj.org/article/c1b0cfc2fbd949abbf1c84d1ef19c463
Autor:
Nora nassef Esmaiel, Engy A. Ashaat, G M AlEttribi, Alaaeldin Fayez, Sonia A. Alsaiedi, Mona O. El Ruby
Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. A total of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c7da73e463f0783a4e256a4575d6018
https://doi.org/10.21203/rs.3.rs-1715546/v1
https://doi.org/10.21203/rs.3.rs-1715546/v1
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:
Ghada A. Otaify, Engy A. Ashaat, Mona Aglan, Mona L. Essawi, Samira Ismail, Manal M. Thomas, Mohamed Abdelhamid, Sonia A. Alsaiedi, Samia A. Temtamy, Mona O. El Ruby, Heba A. Hassan
Publikováno v:
Molecular Syndromology. 12:279-288
Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::752295288919b00ea364b1893a70f7da
https://doi.org/10.1159/000516607
https://doi.org/10.1159/000516607