“…Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but are also thought to be responsible for unexplained recurrent miscarriage (RM). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Managers’ commitment, consideration of intellectual property, compliance with superordinate rules, and provision of a definition of reliable criteria were among the facilitators. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The ARX (Aristaless Related homeoboX) gene was identified in 2002 as responsible for XLAG syndrome, a lissencephaly characterized by an almost complete absence of cortical GABAergic interneurons, and for milder forms of X-linked Intellectual Disability (ID) without apparent brain abnormalities. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…CONCLUSIONS: The prevalence of undernutrition was high in the study population, and it continues to be a public health burden because of its major effect on morbidity and impairment of intellectual and physical development in long-term. Increasing the practice of exclusive breastfeeding, the introduction of timely complementary feeding, and standard case management of morbidities would be beneficial to combat the problem of undernutrition.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…As large-scale genetic studies have implicated MAGUKs in neuropsychiatric disorders such as intellectual disability, autism spectrum disorders, and schizophrenia (SCZ), we analyzed our differentially expressed gene (DEG) set for enrichment of disease risk-associated genes, and found our DEG set to be specifically enriched for SCZ-related genes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…One patient with loss of Dp140utr isoform had intellectual impairment which is not commonly seen. Visuomotor functioning is more affected in more upstream mutations as shown in our study.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Background: Loss of FMR1 is associated with Fragile X syndrome, amongst the most prevalent inherited intellectual disability. Despite extensive research in this area, previous studies have failed to detect consistent evidence of cognitive impairments in the Morris water maze (MWM) task in the Fmr1 knockout (KO) mouse. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Although ZC3H14 is ubiquitously expressed, mutation of the ZC3H14 gene causes a non-syndromic form of intellectual disability. Here, we examine the function of ZC3H14 in the brain by identifying ZC3H14-interacting proteins using unbiased mass spectrometry. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Congenital hypothyroidism (CH) is considered the most common preventable cause of intellectual impairment, with a worldwide annual incidence of 1:4000 live births. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…These SATB2 gene-sets were enriched for genes containing common variants associated with schizophrenia and EA, and were enriched for genes containing rare variants reported in studies of schizophrenia, autism and intellectual disability. In the developing cortex, genes targeted by SATB2 based on ChIP-seq data, and functionally affected when SATB2 is not expressed based on differential expression analysis using RNA-seq data, show strong enrichment for genes associated with EA. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Given the transcriptional and genetic diversity in B. bassiana, a selection of virulent isolates with industrial advantages is a pre-requisite, and this genetic approach could support the development of excellent biopesticides with intellectual property protection.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The increasing popularity of cytogenetic molecular techniques, such as microarray-based CGH (aCGH), contributed to the improved detection of chromosomal abnormalities in patients with intellectual disability, however, these modern techniques do not allow the identification of the balanced in potential carriers. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5′ untranslated region (UTR) of FMR1. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Mutations in the SCN2A gene encoding a voltage-gated sodium channel Nav1.2 are associated with epilepsies, intellectual disability, and autism. SCN2A gain-of-function mutations cause early-onset severe epilepsies, while loss-of-function mutations cause autism with milder and/or later-onset epilepsies. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…There was an association between having intellectual disability and being treated with CPA. CONCLUSION: That all the participants were being treated with psychotropic medication could account for the high percentage of sexual dysfunction in any or all areas of sexual functioning and contribute to the small difference in CSFQ-M-C scores between the two groups. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Afterwards, the child presented a moderate intellectual disability and pain episodes at right lower limb. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso