Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
M Zollino, C Zweier, ID Van Balkom… - Clinical …, 2019 - Wiley Online Library
Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by
intellectual disability, specific facial features, and marked autonomic nervous system …
intellectual disability, specific facial features, and marked autonomic nervous system …
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …
Partnering for change: An innovative school-based occupational therapy service delivery model for children with developmental coordination disorder
Background. Developmental coordination disorder (DCD) is a common, chronic health
condition that is poorly recognized and understood in school settings. Without appropriate …
condition that is poorly recognized and understood in school settings. Without appropriate …
[PDF][PDF] Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro… - The American Journal of …, 2020 - cell.com
Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …
ambiguous genetic findings which can confound accurate diagnosis and clinical …
FXTAS: new insights and the need for revised diagnostic criteria
E Apartis, A Blancher, WG Meissner… - Neurology, 2012 - AAN Enterprises
Objective: Fragile X–associated tremor ataxia syndrome (FXTAS) is defined by FMR1
premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) …
premutation, cerebellar ataxia, intentional tremor, and middle cerebellar peduncle (MCP) …
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
C Depienne, O Trouillard, D Bouteiller… - Human …, 2011 - Wiley Online Library
Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial
epilepsy and mental retardation limited to females or Dravet‐like syndrome. Heterozygous …
epilepsy and mental retardation limited to females or Dravet‐like syndrome. Heterozygous …
Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
S Whalen, D Héron, T Gaillon, O Moldovan… - Human …, 2012 - Wiley Online Library
Abstract Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and
typical facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding …
typical facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding …
[HTML][HTML] Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
P Kuentz, J St-Onge, Y Duffourd, JB Courcet… - Genetics in …, 2017 - nature.com
Purpose: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic
disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We …
disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We …
[HTML][HTML] BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a
spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and …
spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and …
[HTML][HTML] A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …