Search
Search Results
-
Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery
BackgroundNicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and...
-
Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report
BackgroundCornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown...
-
Coffin-Siris syndrome and epilepsy
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual...
-
Evidence for the placenta-brain axis: multi-omic kernel aggregation predicts intellectual and social impairment in children born extremely preterm
BackgroundChildren born extremely preterm are at heightened risk for intellectual and social impairment, including Autism Spectrum Disorder (ASD)....
-
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in...
-
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders
ARID1B haploinsufficiency is a frequent cause of intellectual disability (ID) and autism spectrum disorder (ASD), and also leads to emotional...
-
The SWI/SNF complex in cancer — biology, biomarkers and therapy
Cancer genome-sequencing studies have revealed a remarkably high prevalence of mutations in genes encoding subunits of the SWI/SNF...
-
Haaranomalien bei syndromalen Erkrankungen
Genetic diseases with hyper- and hypotrichosis are very heterogeneous, both clinically and genetically. This is especially true for ectodermal...
-
Autosomal dominant intellectual disability
Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early...
-
SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome
The SWI/SNF(SWItch/Sucrose Non-fermentable)-complexes are composed of several different subunits with specialized functions in specific tissues....
-
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system
BackgroundPitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 ( TCF4 )....
-
Mutations in the CCND1 and CCND2 genes are frequent events in adult patients with t(8;21)(q22;q22) acute myeloid leukemia
Core-binding factor acute myeloid leukemia (CBF-AML) is defined by the presence of either t(8;21)(q22;q22)/ RUNX1-RUNX1T1 or...
-
Neue syndromale Krankheitsbilder mit Mikrozephalie
Microcephaly is defined as a head circumference under the third centile or a head circumference at least two standard deviations below the mean, when...
