There are limited population-based data on the occurrence of Williams syndrome. We
estimated its prevalence combining data from two investigations. One was an epidemiologic …

Mental retardation and epilepsy often occur together. They are both heterogeneous
conditions with acquired and genetic causes. Where causes are primarily genetic, major …

The main purpose of the study was to estimate the prevalence of psychiatric diagnoses in
children with mental retardation (MR)(IQ≤ 70). All children born between 1980 and 1985 …

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation
(XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and …

The aetiology of mental retardation (MR) was studied in a population-based series of
Norwegian children derived from 30037 children born between 1980 and 1985. The study …

Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …

Objective: To study the clinical and radiologic spectrum and genotype–phenotype
correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) …

Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic
and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the
TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue …