Microcephalic primordial dwarfism in an Emirati patient withPNKPmutation

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

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region

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

Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates

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

Contents Vol. 25, 2016

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

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing

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