Results 141 to 150 of about 92,072 (315)

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. [PDF]

Nat Commun, 2022
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K.   +32 more
europepmc   +1 more source

Health Inequalities and People with Learning Disabilities in the UK

, 2011
This briefing paper will assist Primary, Acute and Specialist NHS Trusts in fulfilling their responsibilities. In this report we summarise the most recent evidence from the UK on the health status of people with learning disabilities and the determinants
Emerson, Eric, Baines, Susie, Allerton, Lindsay, Welch, Victoria   +3 more
core  

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome. [PDF]

Clin Case Rep, 2021
Arvio M, Haanpää M, Pohjola P, Lähdetie J.   +3 more
europepmc   +1 more source

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA_A receptor α2 subunit. [PDF]

Mol Psychiatry, 2022
Hines DJ, Contreras A, Garcia B, Barker JS, Boren AJ, Moufawad El Achkar C, Moss SJ, Hines RM.   +7 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family. [PDF]

Front Pediatr, 2021
Wu S, Zheng Y, Xu C, Fu J, Xiong F, Yang F.   +5 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Rare
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay ...
Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer Sloan, Katie Hassett, Wayne M. Jepsen, Aravind Sankaramoorthy, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey   +14 more
doaj   +1 more source