Heart rate variability

CMA van Ravenswaaij-Arts, LAA Kollee… - Annals of internal …, 1993 - acpjournals.org
Purpose: To present an overview of the applicability of heart rate variability measurements in
medicine. Data Sources: During a 4-year period all new papers concerning heart rate …

Mutation update on the CHD7 gene involved in CHARGE syndrome

N Janssen, JEH Bergman, MA Swertz… - Human …, 2012 - Wiley Online Library
CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that
plays a role in transcription regulation by chromatin remodeling. Loss‐of‐function mutations …

[PDF][PDF] Diagnostic genome profiling in mental retardation

BBA De Vries, R Pfundt, M Leisink, DA Koolen… - The American Journal of …, 2005 - cell.com
Mental retardation (MR) occurs in 2%–3% of the general population. Conventional
karyotyping has a resolution of 5–10 million bases and detects chromosomal alterations in∼ …

[PDF][PDF] Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

LELM Vissers, BBA de Vries, K Osoegawa… - The American Journal of …, 2003 - cell.com
Microdeletions and microduplications, not visible by routine chromosome analysis, are a
major cause of human malformation and mental retardation. Novel high-resolution, whole …

[HTML][HTML] Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

JB Rivière, BWM Van Bon, A Hoischen… - Nature …, 2012 - nature.com
Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

M Auer-Grumbach, A Olschewski, L Papić, H Kremer… - Nature …, 2010 - nature.com
Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and
hereditary motor and sensory neuropathies (HMSN) are clinically and genetically …

Nine patients with a microdeletion 15q11. 2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M Doornbos, B Sikkema-Raddatz… - European journal of …, 2009 - Elsevier
Behavioural differences have been described in patients with type I deletions (between
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the …

Guidelines in CHARGE syndrome and the missing link: cranial imaging

CM de Geus, RH Free, BM Verbist… - American Journal of …, 2017 - Wiley Online Library
“CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity.
As a result, clinicians may struggle to provide accurate and comprehensive care, and this …

GRIN2A-related disorders: genotype and functional consequence predict phenotype

V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick… - Brain, 2019 - academic.oup.com
Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by
GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with …