Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Nafisa Tawfiq"'
Autor:
Madiha Mohamed, Fatma Bastaki, Nafisa Tawfiq, Pratibha Nair, Fatima Saif, Abdul Rezzak Hamzeh, Mahmoud Taleb Al-Ali, Manal Mustafa Khadora
Publikováno v:
Hormone Research in Paediatrics. 87:64-68
Background/Aims: This study aimed to identify, clinically and molecularly, the causality of Rabson-Mendenhall syndrome in an Emirati family. It is one of the monogenic syndromes of abnormal glucose homeostasis, which result from insulin receptor defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2580b53e5962e2632d1a2dd2eff602e
https://doi.org/10.1159/000447090
https://doi.org/10.1159/000447090
Autor:
Fatma Bastaki, Nafisa Tawfiq, Abdul Rezzak Hamzeh, Mahmoud Taleb Al-Ali, Madiha Mohamed, Fatima Saif, Pratibha Nair, Majdi El Halik
Publikováno v:
American Journal of Medical Genetics Part A. 170:2127-2132
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd4e2e090c70317d98c58c5165349bb
https://doi.org/10.1002/ajmg.a.37766
https://doi.org/10.1002/ajmg.a.37766
Autor:
Abdul Rezzak Hamzeh, Pratibha Nair, Fatma Bastaki, Majdi El-Halik, Madiha Mohamed, Fatima Saif, Mahmoud Taleb Al-Ali, Nafisa Tawfiq, Gururaj Aithala
Publikováno v:
Congenital Anomalies. 56:135-137
The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83431c4d7dbb7f94bb7bfa1ad0e27483
https://doi.org/10.1111/cga.12144
https://doi.org/10.1111/cga.12144
Autor:
Nafisa Tawfiq, Madiha Mohamed, Pratibha Nair, Mahmoud Taleb Al-Ali, Fatma Bastaki, Abdul Rezzak Hamzeh
Publikováno v:
Medical Principles and Practice. 25:580-582
Objective: The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjögren syndrome born to consanguineous parents. Clinical Presentation and Intervention: The child presented with developmental delay,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54b7e204d90c456f1427657705f10522
https://doi.org/10.1159/000449225
https://doi.org/10.1159/000449225
Autor:
Mahmoud Taleb Al-Ali, Nafisa Tawfiq, Madiha Mohamed, Abdul Rezzak Hamzeh, Fatma Bastaki, Fatima Saif, Pratibha Nair, Mohamed Khalifa
Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D. Clinical Presentation and Intervention: The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::188cd57f5a724f67b6dc627083191f21
https://europepmc.org/articles/PMC5588382/
https://europepmc.org/articles/PMC5588382/
Autor:
Fatma, Bastaki, Pratibha, Nair, Madiha, Mohamed, Manal Mustafa, Khadora, Fatima, Saif, Nafisa, Tawfiq, Mahmoud Taleb, Al-Ali, Abdul Rezzak, Hamzeh
Publikováno v:
Hormone research in paediatrics. 87(1)
This study aimed to identify, clinically and molecularly, the causality of Rabson-Mendenhall syndrome in an Emirati family. It is one of the monogenic syndromes of abnormal glucose homeostasis, which result from insulin receptor defects.A novel nonsy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6074b5747e4f84b5d07c4ae2da4e6af1
https://pubmed.ncbi.nlm.nih.gov/27326825
https://pubmed.ncbi.nlm.nih.gov/27326825
Autor:
Fatima Saif, Fatma Bastaki, Abdul Rezzak Hamzeh, Nafisa Tawfiq, Pratibha Nair, Madiha Mohamed, Mahmoud Taleb Al-Ali
Publikováno v:
European journal of medical genetics. 59(6-7)
Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f547c7d30402cdba5ce62e657ddd231
https://pubmed.ncbi.nlm.nih.gov/27180139
https://pubmed.ncbi.nlm.nih.gov/27180139
Autor:
Gabriel Cozma, Xue Yu, Akingbade Oa, Chizoba Onochie, Burak Uz, Süleyman Serdar Koca, Werner Druck Medien Ag, Corina-Maria Stanciulescu, Pratibha Nair, Nevzat Gözel, Catherine Barthélémy, Xiaoxi Zhou, Libo Zhu, Weilin Sang, Yongjie Qin, Jie Li, Babatunde A. Olusola, Adeola Onakoya, Horia Haragus, Cong Wang, Hengfen Li, Jianzong Du, Noppakun Vongsavan, Nafisa Tawfiq, Simona Cerbu, Satz Mengensatzproduktion, Yong Zhang, Ovidiu Burlacu, Sylvie Roux, Widcha Asawaworarit, I. Joseph Ogiogwa, Jing-lan Wang, Reshmi Rajan, Nadia Aguillon-Hernandez, Obiekwe Okoye, Abdul Rezzak Hamzeh, Adunola Ogunro, Kun Yang, ES Boia, Nataniel N. Shidali, Abdullah Tekin, Zhijun Li, Vlad Laurentiu David, Fatma Bastaki, Kanittha Kijsamanmith, Kunle Hassan, Joëlle Martineau, Frédérique Bonnet-Brilhault, Madiha Mohamed, Samson O. Aturaka, Mahmoud Taleb Al-Ali, Tingyu Tang, Guangyue Qin, MC Popoiu, Tade Aribaba, Wenjuan Wu, Haiming Lu, Salem H. Alshemmari, Babatunde Olanrewaju Motayo, Jingqiu Cui, Servet Yolbas, Adedayo O. Faneye, Prapaporn Yachor, Yungui Wang, Robert E. Floden, Jinzhong Ma, Ahmet Yildirim, Laëtitia Roché, Ashkan Emadi
Publikováno v:
Medical Principles and Practice. 25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1615eece9285fd95966d84cfbe664a17
https://doi.org/10.1159/000452814
https://doi.org/10.1159/000452814
Autor:
Pratibha Nair, Nafisa Tawfiq, Fatima Saif, Abdul Rezzak Hamzeh, Mahmoud Taleb Al-Ali, Fatma Bastaki, Madiha Mohamed
Publikováno v:
Irish journal of medical science. 186(2)
Intellectual disability (ID) features in numerous heritable medical conditions that result from ATRX mutations. Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. In addition to ID, g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e067a4f41237c287ce651583a0f934a
https://pubmed.ncbi.nlm.nih.gov/26860117
https://pubmed.ncbi.nlm.nih.gov/26860117
Autor:
Fatima Saif, Pratibha Nair, Oliver Brandau, Nafisa Tawfiq, Madiha Mohamed, Abdul Rezzak Hamzeh, Fatma Bastaki, Mahmoud Taleb Al-Ali
Publikováno v:
Molecular and cellular probes. 30(1)
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac2dcfbb3462a42de93347520a54dcc
https://pubmed.ncbi.nlm.nih.gov/26631803
https://pubmed.ncbi.nlm.nih.gov/26631803