Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
SE Soden, CJ Saunders, LK Willig, EG Farrow… - Science translational …, 2014 - science.org
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable
to single-gene mutations at more than 1000 loci. Traditional methods yield molecular …
to single-gene mutations at more than 1000 loci. Traditional methods yield molecular …
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …
Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features
P Stankiewicz, TN Khan, P Szafranski, L Slattery… - The American Journal of …, 2017 - cell.com
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome
remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However …
remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However …
Genetic diagnosis of rare diseases: past and present
F Ramos-Fuentes, A González-Meneses, E Ars… - Advances in …, 2020 - Springer
Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that
affect< 1 in 2000 individuals, and most have a genetic component. The diagnostic process is …
affect< 1 in 2000 individuals, and most have a genetic component. The diagnostic process is …
Coexisting conditions modifying phenotypes of patients with 22q11. 2 Deletion Syndrome
M Smyk, M Geremek, K Ziemkiewicz, T Gambin… - Genes, 2023 - mdpi.com
22q11. 2 deletion syndrome (22q11. 2DS) is the most common genomic disorder with an
extremely broad phenotypic spectrum. The aim of our study was to investigate how often the …
extremely broad phenotypic spectrum. The aim of our study was to investigate how often the …
Copy number variations in a cohort of 420 individuals with neurodevelopmental disorders from the south of Brazil
TF Chaves, N Baretto, LF Oliveira, M Ocampos… - Scientific reports, 2019 - nature.com
Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in
individuals with unexplained neurodevelopmental disorders (ND). However, in develo** …
individuals with unexplained neurodevelopmental disorders (ND). However, in develo** …
An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated …
GC Murray, JA Bubier, OJ Zinder… - G3: Genes …, 2023 - academic.oup.com
The Retinoid-related orphan receptor beta (RORβ) gene encodes a developmental
transcription factor and has 2 predominant isoforms created through alternative first exon …
transcription factor and has 2 predominant isoforms created through alternative first exon …
A novel relationship for schizophrenia, bipolar and major depressive disorder Part 3: Evidence from chromosome 3 high density association screen
X Chen, F Long, B Cai, X Chen… - Journal of Comparative …, 2018 - Wiley Online Library
Familial clustering of schizophrenia (SCZ), bipolar disorder (BPD), and major depressive
disorder (MDD) was systematically reported (Aukes et al, Genet Med 2012, 14, 338‐341) …
disorder (MDD) was systematically reported (Aukes et al, Genet Med 2012, 14, 338‐341) …
Copy number variation analysis of patients with intellectual disability from North-West Spain
I Quintela, J Eirís, C Gómez-Lado, L Pérez-Gay… - Gene, 2017 - Elsevier
Intellectual disability (ID) is a complex and phenotypically heterogeneous
neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive …
neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive …