Adult With <i>PHOX2B</i> Mutation and Late-Onset Congenital Central Hypoventilation Syndrome

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

Debra E. Weese‐Mayer, Elizabeth Berry‐Kravis, Isabella Ceccherini et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 505 citations

Medicine, Internal Medicine, Pediatrics +3

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Delphine Trochet, Louise M. O’Brien, David Gozal et al. · The American Journal of Human Genetics · 2005 · 246 citations · Full text

Life Sciences, Genetics, Oncology +7

Hypoxic and Hypercapnic Ventilatory Responses in Awake Children with Congenital Central Hypoventilation Syndrome

James Y. Paton, Soumya Swaminathan, Charles W. Sargent et al. · American Review of Respiratory Disease · 1989 · 165 citations

Life Sciences, Pediatrics, Physiology +13

<i>PHOX2B</i> Germline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome

Delphine Trochet, Loïc de Pontual, Christian Straus et al. · American Journal of Respiratory and Critical Care Medicine · 2007 · 91 citations

Life Sciences, Genetics, Molecular Genetics +16

Respiratory sensations in subjects who lack a ventilatory response to CO2

Steven A. Shea, Leire Andrés, Daniel C. Shannon et al. · Respiration Physiology · 1993 · 84 citations

Life Sciences, Physiology, Pulmonology +13