Use of biomarkers in the diagnosis of Alzheimer’s disease in adults with intellectual disability
The Lancet. Healthy LongevitySummary: People with intellectual disability are a vulnerable cohort who face challenges accessing health care. Compared with the general population, people with intellectual disability have an elevated risk of developing dementia, which often presents ...
Aoife McFeely, MB +2 more
doaj +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 +3 more
europepmc +1 more source
Neurodevelopmental delay and intellectual disability associated with a novel FRYL variant: a Pan-Chung-Bellen syndrome case report [PDF]
Henrique Kliemann Franzoi +9 more
openalex +1 more source
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source
Exercise performance of young people with intellectual disability
, 2000 This paper was presented at the MINDS-UNESCAP Millennium Symposium on Intellectual Disability held in Singapore from 28 Nov to 2 Dec 2000Published ...
Lee, Kok Sonk +2 more
core +1 more source
Deprivation, ethnicity and the prevalence of intellectual and developmental disabilities [PDF]
, 2012 Background Social gradients and ethnic disparities have been reported in some forms of intellectual and developmental disabilities. However, information on the association between area deprivation, ethnicity and other forms of intellectual and ...
Emerson, Eric
core +1 more source
Velo-cardio-facial syndrome, schizophrenia at chromosome 22q11
, 1998 A man with intellectual disability presented with schizophrenia, hypocalcaemia, facial dysmorphism and cleft soft palate. Velo-cardio-facial syndrome was diagnosed and deletion at 22q11 was confirmed by fluorescent in situ hybridization ...
Lee, CY +5 more
core +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 +13 more
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 +5 more
europepmc +1 more source