Results 101 to 110 of about 43,167 (288)

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

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship

BMC Pediatrics
Background X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable ...
Yishan Wang, Qizhou Ma, Jing Chen, Shaoxin Li, Feifei Zheng, Lei Shi, Xiaoshun Li, Sinan Li, Guanglei Tong, Hong Li   +9 more
doaj   +1 more source

Participant opinions of randomised controlled trials within intellectual disability services

, 2010
OBJECTIVE: This study examined participants’ opinions and beliefs about Randomised Controlled Trials (RCTs) in an intellectual disability context. BACKGROUND: RCTs in this field require co-operation from various stakeholders, including carers and
Robotham, D.J.
core  

Supported Accommodation Evaluation Framework (SAEF): drop-in support [PDF]

, 2015
The NSW Department of Family and Community Services, Ageing, Disability and Home Care (ADHC) commissioned the Social Policy Research Centre (SPRC) at University of New South Wales (UNSW) Australia to design an evaluation framework and collect data for ...
Karen Fisher, Fisher, KR ; https://orcid.org/, Ariella Meltzer, Karen R. Fisher, Smedley, C, Meltzer, A ; https://orcid.org/, Purcal, C ; https://orcid.org/, Rosemary Kayess, Jones, A ; https://orcid.org/, Charlotte Smedley, Hill, T ; https://orcid.org/, Kayess, R, Deborah Lutz, Sally Robinson, Trish Hill, Robinson, S, Christiane Purcal, Anna Jones, Lutz, D   +18 more
core   +1 more source

c.7156C > T p.(Gln2386*) variant causes loss-of-function of the USP9X gene in a female-restricted X-linked syndromic intellectual disability: a case report

Journal of Medical Case Reports
Background Female-restricted X-linked syndromic intellectual developmental disorder-99 is an ultrarare neurodevelopmental disorder linked to X, manifesting in female individuals due to mutations in the USP9X gene.
Talyta Alves da Silva Campos, Alex Honda Bernardes, Irene Plaza Pinto, Hiane Aparecida da Silva Teixeira, Juliana Ferreira da Silva, Victor Cortázio do Prado Santos, Raffael Zatarin, Aparecido Divino da Cruz   +7 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The impact of ageing in people with intellectual and developmental disability

, 2008
In the countries of Western Europe, death rates declined rapidly during the 20th century, resulting in present-day life expectancies that typically range from 75- 79 years for males and 80-84 years for females.
Glasson, E., Bittles, A.H.
core  

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

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

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Frontiers in Genetics, 2019
X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual disability is the only clinically consistent manifestation have been described.
María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros   +19 more
doaj   +1 more source