The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.
about
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case seriesPediatric disorders with autonomic dysfunction: what role for PHOX2B?Central Alveolar Hypoventilation Syndromes.A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.Disability, discrimination and death: is it justified to ration life saving treatment for disabled newborn infants?Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience.Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literatureProceedings of the fourth international conference on central hypoventilation.Sleep Apnea Syndrome after Posterior Fossa Surgery: A Case of Acquired Ondine's CurseAbnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.Home mechanical ventilation: a Canadian Thoracic Society clinical practice guidelineHealth-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.Cardiovascular abnormalities and arrhythmias in patients with Ondine's curse (congenital central hypoventilation) syndrome.Clinical review: long-term noninvasive ventilationEffect of sleep stage on breathing in children with central hypoventilationCortical processing of respiratory occlusion stimuli in children with central hypoventilation syndromeMutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusCentral Hypoventilation Syndromes.An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Increasing prevalence of domiciliary ventilation: changes in service demand and provision in the South West of the UK.Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children.Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.Congenital central hypoventilation syndrome: diagnostic and management challenges.Congenital central hypoventilation syndrome: A pictorial demonstration of absent electrical diaphragmatic activity using non-invasive neurally adjusted ventilatory assist.Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome.Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation.Congenital central hypoventilation syndrome and carbon dioxide sensitivity.Ethical considerations with the management of congenital central hypoventilation syndrome.Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics.Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.Functional brain deficits in congenital central hypoventilation syndrome: commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.
P2860
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P2860
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The French Congenital Central ...... data, phenotype, and genotype.
@ast
The French Congenital Central ...... data, phenotype, and genotype.
@en
type
label
The French Congenital Central ...... data, phenotype, and genotype.
@ast
The French Congenital Central ...... data, phenotype, and genotype.
@en
prefLabel
The French Congenital Central ...... data, phenotype, and genotype.
@ast
The French Congenital Central ...... data, phenotype, and genotype.
@en
P2093
P356
P1433
P1476
The French Congenital Central ...... data, phenotype, and genotype.
@en
P2093
Claude Gaultier
François Beaufils
French CCHS Working Group
Isabelle Zaccaria
Michel Dehan
P356
10.1378/CHEST.127.1.72
P407
P50
P577
2005-01-01T00:00:00Z