Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Muneera J. Alshammari"'
Autor:
Mohammed F. Alosaimi, Muddathir H. Hamad, Muneera J. AlShammari, Dima Z. Jamjoom, Najd S. Musibeeh
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundBare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates major histocompatibility complex class II (MHC II) expression.ObjectiveWe report the case of
Externí odkaz:
https://doaj.org/article/be525d4acb7141f99081288a0f3fbb89
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(12)
Autor:
Talal Algoufi, Firdous Abdulwahab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mohammed A. Aldahmesh, Fatimah Aljubran, Arif O. Khan, Haifa Alsedairy, Eissa Faqeih, Muneera J. Alshammari, Sateesh Maddirevula, Mais Hashem, Hadeel Alsharif, Salil A. Lachke, Niema Ibrahim, Nisha Patel, Ahmed Qudair, Dorota Monies, Deepti Anand, Mohammed Al-Owain
Publikováno v:
Human Genetics. 136:205-225
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a
Autor:
Fatima Alfadli, Ghada M H Abdel-Salam, Tamer Rizk, Lamees Alhabeeb, Dorota Monies, Gamal Ahmed Hosny, Nadia Al-Hashmi, Hessa S. Alsaif, Mohamed Abouelhoda, Ghada A. Otaify, Mais Hashem, Amira Nabil, Saeed Al Tala, Hisham Alkuraya, Anas M. Alazami, Aida Alaqeel, Muneera J. Alshammari, Mahmoud R. Fassad, Muddathir H. Hamad, Majid Alfadhel, Seema Kapoor, Mohammed Zain Seidahmed, Mona Aglan, Fowzan S. Alkuraya, Nour Ewida, Mustafa A. Salih, Arif O. Khan, Samira Sogati, Niema Ibrahim, W T Keng, Afaf Alsagheir, Yasser Sabr, Samira Ismail, Ranad Shaheen, Ahlam A. Hamed, Winnie Ong Peitee, Abdulmonem Alsiddiky, Saji Alexander, Shams Anazi, Amal Alhashem, Ankur Singh, Maha S. Zaki, Firdous Abdulwahab, Alka V. Ekbote, Nada Al Tassan, Fatema Alzahrani, Saud Alsahli, Samia A. Temtamy, Jawahir Y. Mohamed, Abdullah Qasem, Eissa Faqeih, Sateesh Maddirevula, Aziza M. Mushiba, Khalda Amr, Hanan E. Shamseldin, Nisha Patel
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)
To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. Detailed phenotyping and next-generation sequencing (panel and exome). Our analysis revealed 22
Autor:
Arif O. Khan, Muneera J. Alshammari, Fatimah A. Alhabib, Fowzan S. Alkuraya, Jawahir Y. Mohamed, Mohammed A. Aldahmesh
Publikováno v:
Human Mutation. 34:1195-1199
One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) in a number of Saudi families. Consistent with the presumed pseudodominant inheritance in one of the
Autor:
Fowzan S. Alkuraya, Muneera J. Alshammari, M. Baig, Anas M. Alazami, Hamdy H. Hassan, M.A. Salih
Publikováno v:
Clinical Genetics. 85:371-375
Nephronophthisis is the most common genetic cause of renal failure in children and young adults. It is genetically heterogeneous and can be seen in isolation or in combination with other ciliopathy phenotypes. Here we report an index case where nephr
Autor:
Eissa Faqeih, Muneera J. Alshammari, Abdulmonem Alsiddiky, Fowzan S. Alkuraya, Niema Ibrahim, Jawahir Y. Mohamed
Publikováno v:
The American Journal of Human Genetics. 92:157-161
Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present w
Autor:
Fowzan S. Alkuraya, Shinu Ansari, Nadia Al-Hashmi, Eissa Faqeih, Anas M. Alazami, Noon Mousa, Aisha Alsinani, Zayed S. Al-Zayed, Fatema Alzahrani, Mohammed Al-Owain, Ranad Shaheen, Muneera J. Alshammari
Publikováno v:
Journal of Medical Genetics. 49:630-635
Background Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins rel
Autor:
Muneera J. Alshammari, Fowzan S. Alkuraya, Hadia Hijazi, Mazhor Al-Dosary, Fatema Alzahrani, Arif O. Khan, Leen Abu Safieh, Mohammed Zain Seidahmed, Mustafa A. Salih, Anas M. Alazami
Publikováno v:
Human Mutation. 33:1423-1428
Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this condition is significant with 16 genes identified to date. We have used a combination of a
Publikováno v:
Journal of Medical Genetics. 49:455-461
Background Dyggve–Melchior–Clausen syndrome (DMC) is a chondrodysplasia that bears significant phenotypic resemblance to mucopolysaccharidosis type IV (Morquio disease). Autosomal recessive mutations in DYM are known to cause this disease through