Results 171 to 180 of about 2,259,944 (347)

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature Genetics, 2009
P. Tarpey, Raffaella Smith, E. Pleasance, Annabel Whibley, S. Edkins, Claire W. Hardy, S. O’Meara, Calli Latimer, E. Dicks, A. Menzies, P. Stephens, M. Blow, Christopher Greenman, Yali Xue, C. Tyler-Smith, Deborah J. Thompson, K. Gray, J. Andrews, S. Barthorpe, Gemma Buck, J. Cole, R. Dunmore, David Jones, M. Maddison, T. Mironenko, Rachel Turner, K. Turrell, J. Varian, S. West, S. Widaa, P. Wray, J. Teague, A. Butler, A. Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, R. Wooster, Isabel Tejada, F. Martínez, G. Carvill, R. Goliath, M. ArjanP, de Brouwer, H. Bokhoven, H. Esch, J. Chelly, M. Raynaud, H. Ropers, F. Abidi, A. Srivastava, James J. Cox, Ying Luo, U. Mallya, Jenny Moon, Josef Parnau, S. Mohammed, J. Tolmie, C. Shoubridge, M. Corbett, A. Gardner, E. Haan, Sinitdhorn Rujirabanjerd, M. Shaw, Lucianne Vandeleur, T. Fullston, D. Easton, Jackie Boyle, M. Partington, A. Hackett, M. Field, C. Skinner, R. Stevenson, M. Bobrow, G. Turner, C. Schwartz, J. Gecz, Lucy Raymond, P. Futreal, M. Stratton   +79 more
semanticscholar   +1 more source

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion. [PDF]

Chin Med J (Engl), 2023
Zhou C, Wei X, Xiao Y, Liu S, Wang J.
europepmc   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Mental Retardation, Poverty and Community Based Rehabilitation

Iranian Rehabilitation Journal, 2009
A person with moderate mental retardation would, in a western country, be "diagnosed" early on in life. Consequently, such a child is likely to be sent for special education.
Einar Helander
doaj  

Nuclear fragile X mental retardation-interacting protein 1-mediated ribophagy protects T lymphocytes against apoptosis in sepsis. [PDF]

Burns Trauma, 2023
Zhao PY, Yao RQ, Zheng LY, Wu Y, Li YX, Dong N, Li JY, Du XH, Yao YM.   +8 more
europepmc   +1 more source

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

The Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source

Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. [PDF]

Front Genet, 2022
Wang Y, Lv Y, Li Z, Gao M, Yang X, Li Y, Shi J, Gao Z, Liu Y, Gai Z.   +9 more
europepmc   +1 more source

Ontogenetic changes and sexual dimorphism in the cranium and mandible of the Atlantic walrus (Odobenus rosmarus rosmarus L.)

The Anatomical Record, EarlyView.
Abstract Walruses have been an important subsistence and cultural resource for humans and have been exploited for millennia across their distribution. This exploitation has contributed to severe declines in several populations and local extirpations.
Katrien Dierickx, Oliver Kersten, Youri van den Hurk, Brenna A. Frasier, Richard Sabin, Bastiaan Star, James H. Barrett   +6 more
wiley   +1 more source

A comparison of the coping methods with stress of mothers of children with mental-retardation, Cerebral-Palsy and normal children

پژوهش‌های علوم شناختی و رفتاری, 2013
The aim of this research was to compare the stress coping methods of mothers of children with mental- retardation, cerebral-palsy and normal children. The design of this research was ex- post- facto.
S. Aghababaei, N. Esteki Azad, A. Abedi
doaj  

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Journal of Human Genetics, 2011
K. Shimojima, Midori Sugawara, M. Shichiji, S. Mukaida, R. Takayama, K. Imai, Toshiyuki Yamamoto   +6 more
semanticscholar   +1 more source