Results 201 to 210 of about 1,736,311 (408)

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Appendix: IASSID Physical Health Recommendations for Adults with an Intellectual Disability (ID) [PDF]

, 2002
V. P. Prasher, Matthew P. Janicki
openalex   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Physical Fitness of Adults with an Intellectual Disability: A 13-Year Follow-up Study

, 2000
Andrew Graham, Greg Reid
openalex   +2 more sources

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Desirable Conversations: Sexuality and Women with Intellectual Disabilities

, 2000
Neera Malhotra
openalex   +2 more sources

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Relation of Muscle Tone Hypertension to Respiratory Sinus Arrhythmia in Persons with Severe Intellectual and Physical Disabilities

, 2000
Ayumi KAMIMURA, Miyoshi Kumoi, Toshihide KOIKE   +2 more
openalex   +2 more sources

Glasgow Anxiety Scale for people with an Intellectual Disability (GAS‐ID): development and psychometric properties of a new measure for use with people with mild intellectual disability [PDF]

, 2003
J. Mindham, Colin A. Espie
openalex   +1 more source