Guidelines for diagnosis and management of congenital central hypoventilation syndrome

Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome

(2020) Eric Laifman et al.   EUROPEAN JOURNAL OF PEDIATRICS

Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases

(2019) A. Broch et al.   JOURNAL OF PEDIATRIC SURGERY

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

(2019) Yakov Sivan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Decannulation in children affected by congenital central hypoventilation syndrome: A proposal of an algorithm from two European centers

(2019) Maria Giovanna Paglietti et al.   PEDIATRIC PULMONOLOGY

Airway Obstruction during Sleep due to Diaphragm Pacing Precludes Decannulation in Young Children with CCHS

(2019) Taher Valika et al.   RESPIRATION

Causative and common PHOX2B variants define a broad phenotypic spectrum

(2019) Tiziana Bachetti et al.   CLINICAL GENETICS

Obstructive Sleep Apnea in Patients With Congenital Central Hypoventilation Syndrome Ventilated by Diaphragm Pacing Without Tracheostomy

(2018) Annie Wang et al.   Journal of Clinical Sleep Medicine

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome

(2018) Ajay S. Kasi et al.   Journal of Clinical Sleep Medicine

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome

(2018) Yassmin Mansela Musthaffa et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay

(2018) Fred M. Kusumoto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical approach to cardiac pauses in congenital central hypoventilation syndrome

(2018) Gianfranco Mitacchione et al.   PEDIATRIC PULMONOLOGY

Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice

(2018) Luis Rodrigo Hernandez-Miranda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

(2017) Simona Di Lascio et al.   HUMAN MUTATION

Routine airway surveillance in pediatric tracheostomy patients

(2017) Ozgul Gergin et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation

(2017) Ajay S. Kasi et al.   Journal of Clinical Sleep Medicine

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

(2017) Schaida Schirwani et al.   Journal of Clinical Sleep Medicine

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

(2017) Malte Spielmann et al.   JOURNAL OF MEDICAL GENETICS

Pre-decannulation flexible bronchoscopy in tracheostomized children

(2017) Anil Sachdev et al.   PEDIATRIC SURGERY INTERNATIONAL

Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome

(2017) Abdullah Khayat et al.   Sleep and Breathing

Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

(2016) Eva Klaskova et al.   BIOMEDICAL PAPERS-OLOMOUC

Midfacial and Dental Changes Associated with Nasal Positive Airway Pressure in Children with Obstructive Sleep Apnea and Craniofacial Conditions

(2016) Soleil D. Roberts et al.   Journal of Clinical Sleep Medicine

Desogestrel enhances ventilation in ondine patients: Animal data involving serotoninergic systems

(2016) Fanny Joubert et al.   NEUROPHARMACOLOGY

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells

(2015) Tiziana Bachetti et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome

(2015) Ha Trang et al.   BMC Neurology

Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome

(2015) Tomoyuki Shimokaze et al.   JOURNAL OF HUMAN GENETICS

Thoracoscopic placement of phrenic nerve pacers for diaphragm pacing in congenital central hypoventilation syndrome

(2015) Kristina J. Nicholson et al.   JOURNAL OF PEDIATRIC SURGERY

Surveillance direct laryngoscopy and bronchoscopy in children with tracheostomies

(2015) Amy Richter et al.   LARYNGOSCOPE

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated WithPHOX2BNon-Polyalanine Repeat Expansion Mutations

(2015) Solveig Heide et al.   PEDIATRIC BLOOD & CANCER

Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients

(2015) Bonnie Diep et al.   RESPIRATION

International Classification of Sleep Disorders-Third Edition

(2014) Michael J Sateia   CHEST

A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeatPHOX2Bmutation

(2014) K.J. Low et al.   PEDIATRIC PULMONOLOGY

Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome

(2014) Erika Maria Paddeu et al.   Sleep and Breathing

2013 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy

(2013)   EUROPEAN HEART JOURNAL

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

(2013) Tiziana Bachetti et al.   PEDIATRIC PULMONOLOGY

Heterozygous 24-polyalanine repeats in thePHOX2Bgene with different manifestations across three generations

(2013) Piyaporn Chuen-im et al.   PEDIATRIC PULMONOLOGY

Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome

(2012) Gábor Marics et al.   ACTA PAEDIATRICA

Germline mosaicism ofPHOX2Bmutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

(2012) Casey M. Rand et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rules for Scoring Respiratory Events in Sleep: Update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events

(2012) Richard B. Berry et al.   Journal of Clinical Sleep Medicine

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B

(2012) Sara Parodi et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Intermittent Hyperglycemia due to Autonomic Nervous System Dysfunction: A New Feature in Patients with Congenital Central Hypoventilation Syndrome

(2012) Georges Gelwane et al.   JOURNAL OF PEDIATRICS

Late onset congenital central hypoventilation syndrome after exposure to general anesthesia

(2011) Abdul Kader M. Mahfouz et al.   Canadian Journal of Anesthesia-Journal canadien d anesthesie

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

(2011) Tiziana Bachetti et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Breathing without CO2 Chemosensitivity in Conditional Phox2b Mutants

(2011) N. Ramanantsoa et al.   JOURNAL OF NEUROSCIENCE

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

(2011) Eleonora Di Zanni et al.   NEUROBIOLOGY OF DISEASE

Variable human phenotype associated with novel deletions of the PHOX2B gene

(2011) Lawrence J. Jennings et al.   PEDIATRIC PULMONOLOGY

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome

(2010) Debra E. Weese-Mayer et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel

(2010) Christian Straus et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Congenital central hypoventilation syndrome: four families

(2010) Amit Trivedi et al.   Sleep and Breathing

International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome

(2009) Rosario Montirosso et al.   DISABILITY AND REHABILITATION

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion

(2009) Hiroko Arai et al.   JOURNAL OF HUMAN GENETICS

Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence

(2009) Miriam R. Fine-Goulden et al.   Pediatric Critical Care Medicine

Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children

(2009) Frank A. Zelko et al.   PEDIATRIC PULMONOLOGY

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in thePHOX2Bgene

(2008) Gabriela M Repetto et al.   ACTA PAEDIATRICA

Mask ventilation in the early management of congenital central hypoventilation syndrome

(2008) P. Ramesh et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

(2008) Delphine Trochet et al.   HUMAN MUTATION

Neuropsychological, Behavioral, and Adaptive Functioning of Swiss Children With Congenital Central Hypoventilation Syndrome

(2008) Helge Ruof et al.   JOURNAL OF CHILD NEUROLOGY

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

(2008) Ulrike Hennewig et al.   JOURNAL OF HUMAN GENETICS

A novel missense mutation in thePHOX2Bgene is associated with late onset central hypoventilation syndrome

(2008) Sara Parodi et al.   PEDIATRIC PULMONOLOGY

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

(2008) V. Dubreuil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA