Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex : Case reports and review of literature

Autor: Amna Al-Futaisi, Ahmed Idris, Abeer Al-Sayegh, Watfa S. Al-Mamari

Publikováno v: Sultan Qaboos University Medical Journal, Vol 16, Iss 4, Pp 520-524 (2016)

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links betwee

Externí odkaz: https://doaj.org/article/99ccc010428240bca65e065511dc582d

De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism

Autor: Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Sayegh, Adila Al-Kindy

Publikováno v: Sultan Qaboos University Medical Journal, Vol 15, Iss 3, Pp 415-419 (2015)

The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male ch

Externí odkaz: https://doaj.org/article/4049e17e908d479f92540eebe3300e05

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

Autor: Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clemence Ligneul, James Rouse, Mohammed E. El-Asrag, Andreea Pantiru, Valerie E. Vancollie, Hannah W.Y. Ng, Jennifer A. Ogbeta, Kirstie Goodchild, Jacob Ellegood, Christopher J. Lelliott, Jonathan G.L. Mullins, Amanda Bretman, Ruslan Al-Ali, Christian Beetz, Lihadh Al-Gazali, Aisha Al Shamsi, Jason P. Lerch, Jack R. Mellor, Abeer Al Sayegh, Manir Ali, Chris F. Inglehearn, Steven J. Clapcote

Publikováno v: Al-Amri, A H, Armstrong, P, Amici, M, Ligneul, C, Mellor, J R & Clapcote, S J 2022, ' PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies ', Biological Psychiatry, vol. 92, no. 4, pp. 323-334 . https://doi.org/10.1016/j.biopsych.2021.12.017

BackgroundThe discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.MethodsHomozygosity mapping, whole-exome sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c438ba4555785a1f1213cff239036c
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf

Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene

Autor: Musleh Al-Musalhi, Shafiq Ur Rehman Naseem, Abeer Al-Sayegh, Salem Al-Tamemi, Yasser Wali, Reem Al-Marhoobi

Publikováno v: Journal of Pediatric Hematology/Oncology. 42:333-335

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23152eddf335b80ce771bb1af2f6a157
https://doi.org/10.1097/mph.0000000000001545

Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature

Autor: Abeer Al-Sayegh, Ahmed B. Idris, Amna Al-Futaisi, Watfa Al-Mamari

Publikováno v: Sultan Qaboos University Medical Journal, Vol 17, Iss 1, Pp 127-128 (2017)
Sultan Qaboos University Medical Journal, Vol 16, Iss 4, Pp 520-524 (2016)

Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7a963d3e6370594d17f684f48ab5c7
https://doi.org/10.18295/squmj.2016.16.04.022