Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Niema Ibrahim"'
Autor:
Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1013-1028 (2020)
Abstract Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathog
Externí odkaz:
https://doaj.org/article/a04c331bd519443b858efb712f9f4d19
Autor:
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Abstract Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Wh
Externí odkaz:
https://doaj.org/article/052ae740d08a4962859a648a9b6078b5
Autor:
Nisha Patel, Arif O. Khan, Maher Al-Saif, Walid N. Moghrabi, Balsam M. AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A. Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S. A. Khabar, Fowzan S. Alkuraya
Publikováno v:
Genome Biology, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Variable expressivity is a well-known phenomenon in which patients with mutations in one gene display varying degrees of clinical severity, potentially displaying only subsets of the clinical manifestations associated with the mul
Externí odkaz:
https://doaj.org/article/1b2694375998473488e8741b9e6ca008
Autor:
Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Publikováno v:
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mappi
Externí odkaz:
https://doaj.org/article/50640b009bf24893bb6eadc42e852726
Autor:
Fowzan S. Alkuraya, Mohammed Zain Seidahmed, Amna Al-Futaisi, Khalid A. Alhussein, Nasser Alabbad, Hessa S. Alsaif, Abeer M. Miqdad, Abdallah Alfifi, Niema Ibrahim, Almundher Al-Maawali, Adila Al-Kindi, Abdulmohsen Alsamadi, Omer Bashir Abdelbasit
Publikováno v:
Human Genetics. 139:513-519
Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29574b2139d22683d358e57378c9b01b
https://doi.org/10.1007/s00439-020-02117-7
https://doi.org/10.1007/s00439-020-02117-7
Autor:
Abdullah S. Al-Kharashi, Ahmed M. Abu El-Asrar, Emad B. Abboud, Bandar Alamro, Fowzan S. Alkuraya, Ramadan Alturki, Rana Helaby, Niema Ibrahim, Bandar Al Ghamdi, Hisham Alkuraya, Nisha Patel, Mohammed D. Alotaibi, Sawsan R. Nowilaty, Abdulrahman Al-Hussaini, Sulaiman M. Alsulaiman, Amani Elshaer, Zainab Almasseri, Hamad Al-Zaidan, Naif A.M. Almontashiri, Wafaa Eyaid
Publikováno v:
Clinical Genetics. 97:447-456
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131e77cfe46d6a6dea26638ff5239fcd
https://doi.org/10.1111/cge.13676
https://doi.org/10.1111/cge.13676
Autor:
Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang
Publikováno v:
The American Journal of Human Genetics. 104:731-737
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we mapped a ciliopathy phenotype that most closely matches Joubert syndrome (hypotonia, develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4
https://doi.org/10.1016/j.ajhg.2019.02.018
https://doi.org/10.1016/j.ajhg.2019.02.018
Autor:
Badr Alsaleem, Rana Helaby, Hanan E. Shamseldin, Nisha Patel, Sami Wali, Hamoud Alhebbi, Firdous Abdulwahab, Nour Ewida, Eman Alobeid, Xin Gao, Dorota Monies, Amal Alhashem, Sateesh Maddirevula, Ramzan Umarov, Maha Alqahtani, Afaf Alsagheir, Fowzan S. Alkuraya, Hiroyuki Kuwahara, Nadine Hanna, Maha AlAli, Niema Ibrahim, Fatema Alzahrani, Nada Derar, Hessa S. Alsaif, Mona M. Alenazi, Tarfa Al-Sheddi, Mais Hashem, Hatoon Al Ali
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
Genome Biology
Genome Biology
Background At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Whole trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506ab9823a3f6edb2d8ff7717fcd0109
https://doi.org/10.1186/s13059-020-02053-9
https://doi.org/10.1186/s13059-020-02053-9
Autor:
Samantha A. Schrier Vergano, Amy Kenney, Carrie A. Lahner, Mais Hashem, Deborah L. Renaud, Niema Ibrahim, Brendan C. Lanpher, Mohammed Zain Seidahmed, Patrick R. Blackburn, Elizabeth J. Bhoj, Dong Li, Linda Hasadsri, Matthew J. Schultz, Fowzan S. Alkuraya, Laura J. Fisher
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1013-1028 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1013-1028 (2020)
Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic miss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106bd4e7881bef0209f27ea89a0fcf24
https://pubmed.ncbi.nlm.nih.gov/32519519
https://pubmed.ncbi.nlm.nih.gov/32519519
Autor:
Fowzan S. Alkuraya, Nour Ewida, Majed J Dasouki, Abdulmalik Mirdawi, Mirna Assoum, Soha A Hamed, Hesham A Deek, Wafa Qabbaj, Waleed Altaweel, Naif Alhathal, Hamed Alali, Mashael Al-Qahtani, Firdous Abdulwahab, Serdar Coskun, Sateesh Maddirevula, Abdullah Mohammed Assiri, Shaheed Alsuhaibani, Thomas Morris, Niema Ibrahim
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)
Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a “genomics first” approach to male infertility. Patients with severe oligospermia and nonobstructive azoospermia were investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a29db9c305bc7850c4a21bfb3f89e1
https://pubmed.ncbi.nlm.nih.gov/32719396
https://pubmed.ncbi.nlm.nih.gov/32719396