Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jameela Shinwari"'
Autor:
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain. A. Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome
Externí odkaz:
https://doaj.org/article/4a24e0c676b241eea3acb7405d21bc23
Autor:
Abeer E. Mustafa, Batoul Baz, Amna Magrashi, Tariq Faquih, Eman A.A. Al Yemni, Jameela Shinwari, Dorota Monies, Shazia Subhani, Nada Al-Tassan, Amjad Jabaan, Basma S. AlAbdulaziz, Wafa Ali, Mohamed Abouelhoda, Ewa Goljan, Bashayer R. Al-Mubarak, Thamer Alkhairallah, Mohamed H Al-Hamed, Renad Albar, Saeed Bohlega
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Genetic studies of the familial forms of Parkinson’s disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation
Autor:
Banan Al-Younes, Sulaiman M. Al-Mayouf, Dorota Monies, Salma M. Wakil, Nada Al-Tassan, Ewa A. Naim, Mohamed Abouelhoda, Brian F. Meyer, Haya Al-Dusery, Jameela Shinwari, Futwan Al-Mohanna
Publikováno v:
Arthritis & Rheumatology. 67:288-295
Objective The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of some controversy, with evidence for both autoimmune and autoinflammatory etiologies. Several monogenic autoinflammatory disorders have been described, but
Autor:
Dejene Abebe, Basma S. AlAbdulaziz, Faten M. Alnaemi, Eman A.A. Al Yemni, Jameela Shinwari, Nada Al Tassan, Mohammad Ghaziuddin, Bashayer R. Al Mubarak
Publikováno v:
Psychiatric Genetics
Aim Genetic and clinical complexities are common features of most psychiatric illnesses that pose a major obstacle in risk-gene identification. Attention deficit hyperactivity disorder (ADHD) is the most prevalent child-onset psychiatric illness, wit
Publikováno v:
Advances in Biological Chemistry. :408-417
PIK3R5 is the regulatory subunit of Phosphoinositide 3-kinase γ (PI3Kγ) that is responsible for phosphory-lating membrane lipids to activate the AKT pathway. PIK3R5 binds Gβγ and facilitates the interaction with p110γ catalytic subunit (PIK3CG)
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 20(6)
Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the unusual form of exotropic Duane syndrome with synergistic divergence was recently associated wi
Autor:
Steve Bobis, Hala Abdalrahman Ahmed, Prashant Bavi, Latifa Al Sharif, Nada Abu Dhaim, Dania S. Khalil, Zainularifeen Abduljaleel, Jameela Shinwari, Amna Magrashi, Nada Al Tassan, Samaher AlAhmed, Saeed Bohlega
Publikováno v:
Human Mutation. 33:351-354
Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these over
Publikováno v:
Open Journal of Genetics. :70-77
MUTYH is a base excision repair glycosylase responsible for correcting the G:A mismatches that arise from replication of a damaged DNA, such impairment results from attacks by reactive oxygen species that are produced from different sources including
Autor:
Abdullah Al Jefri, Nada Al Tassan, Mohammad Alanazi, Dana Bakheet, Abdulkareem Al-Momen, Arjumand S. Warsy, Asma I. Tahir, Jameela Shinwari, Tahani Alshehri
Publikováno v:
Open Journal of Genetics. :171-173
Twenty two haplotypes were generated from a pool of 60 unrelated Saudi β thalassemia major patients using previously described restriction sites in the β globin gene. Linkage disequilibrium analysis of the polymorphic sites was also conducted, a fe
Autor:
Nada Al Tassan, Jameela Shinwari, Basma Tawil, Manar Ghannam, Michael Nester, Hussain. A. Alshamrani, Brian F. Meyer, Ahmad Adi, Hisham Aldhalaan, Mohammed Aldosari
Publikováno v:
Molecular medicine reports. 12(2)
Autistic spectrum disorder (ASD) is a complex neurodevelopmental disorder that results in social and communication impairments, as well as repetitive and stereotyped patterns. Genetically, ASD has been described as a multifactorial genetic disorder.