Results 171 to 180 of about 540,064 (342)

Prefrontal–hippocampal functional connectivity encodes recognition memory and is impaired in intellectual disability [PDF]

, 2020
Maria Alemany-González, Thomas Gener, Pau Nebot, Marta Vilademunt, Mara Dierssen, M. Victoria Puig   +5 more
openalex   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Co-Producing a Patient Reported Experience Measure (PREM) With and for People With Intellectual Disability. [PDF]

Health Expect
Newman B, Wu L, Mimmo L, Catlett B, Van Hoeke M, Tokutake M, Phillips K, Van Hoeke D, Bowen K, Baumgarter DD, Patterson P, Manias E, Szanto T, Hackl NA, Basur D, Li M, Adams C, Olivier P, Strnadová I, Trollor JN, Harrison R.   +20 more
europepmc   +1 more source

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare). [PDF]

J Intellect Disabil Res
Bakken TL, Axmon A, Sandberg M.
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Substance use interventions for people with intellectual disability transitioning out of prison

Australian and New Zealand Journal of Public Health, 2015
Kate van Dooren, Jesse Young, Carmel Blackburn, Fernanda Maria Claudio   +3 more
doaj   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability. [PDF]

Mol Genet Genomic Med
Akkus N, Canbal A, Guneysu S, Gokce E, Duzgun P, Barıs İ.   +5 more
europepmc   +1 more source