Results 111 to 120 of about 2,601,816 (350)

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Snyder-Robinson syndrome

Autopsy and Case Reports, 2018
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs.
Rachel Starks, Patricia Kirby, Michael Ciliberto, Marco Hefti   +3 more
doaj  

Inquiry into access to and interaction with the justice system by people with an intellectual disability and their families and carers [PDF]

, 2013
The Committee was asked to consider the access and interactions that people with an intellectual disability or cognitive impairment have with the justice system.

core  

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

Neurobiology of Disease, 2016
Intellectual disability encompasses a large set of neurodevelopmental disorders of cognition that are more common in males than females. Although mutations in over 100 X-linked genes associated to intellectual disability have been identified, only a few ...
Arezu Jahani-Asl, Cheng Cheng, Chi Zhang, Azad Bonni   +3 more
doaj   +1 more source

Intellectual disability and epilepsy in down syndrome.

Maedica, 2015
Down Syndrome (DS) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). There is a paucity of data in the literature regarding epilepsy in Down syndrome and its relation to intellectual disability.The purpose of this article is to analyze the association of epilepsy in children with DS ...
Diana, Barca, Oana, Tarta-Arsene, Alice, Dica, Catrinel, Iliescu, Magdalena, Budisteanu, Cristina, Motoescu, Niculina, Butoianu, Dana, Craiu   +7 more
openaire   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

What’s in a name? Alternatives to “learning disability” [PDF]

, 2006
The term learning disability is currently used in the UK to describe people who require a service due to a low intellectual ability. It is argued that the term is demeaning, confusing and, as currently defined, fails to describe the group of people to ...
The Burton Street Group, Sheffield, Whitaker, Simon   +1 more
core   +2 more sources

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Exploring the beliefs about sex and relationships held by sex offenders with an intellectual disability [PDF]

, 2013
This thesis aimed to enrich the existing research literature concerning sex offenders with an intellectual disability and to offer direct implications for the treatment of these individuals within the National Offender Management Service1 (NOMS).
Mayes, D
core