{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:37:44Z","timestamp":1791398264807,"version":"4.3.3"},"reference-count":96,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Respiratory Physiology &amp; Neurobiology"],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.1016\/j.resp.2013.05.018","type":"journal-article","created":{"date-parts":[[2013,5,18]],"date-time":"2013-05-18T19:05:26Z","timestamp":1368903926000},"page":"272-279","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":47,"title":["Congenital central hypoventilation syndrome"],"prefix":"10.1016","volume":"189","author":[{"given":"N.","family":"Ramanantsoa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gallego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.resp.2013.05.018_bib0005","doi-asserted-by":"crossref","first-page":"41","DOI":"10.4103\/1817-1737.49411","article-title":"Obesity hypoventilation syndrome","volume":"4","author":"Al Dabal","year":"2009","journal-title":"Annals of Thoracic Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0010","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1130","article-title":"Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome","volume":"33","author":"Amiel","year":"2003","journal-title":"Nature Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0015","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: a review","volume":"45","author":"Amiel","year":"2008","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0020","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.resp.2009.03.005","article-title":"PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models","volume":"168","author":"Amiel","year":"2009","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0025","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1164\/rccm.200605-607CR","article-title":"PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood","volume":"174","author":"Antic","year":"2006","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0030","series-title":"PHOX2B Polyalanine Expansions and Frameshift Mutations","first-page":"71","article-title":"In vitro studies of PHOX2B gene mutations in congenital central hypoventilation syndrome","author":"Bachetti","year":"2008"},{"key":"10.1016\/j.resp.2013.05.018_bib0035","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1093\/hmg\/ddi188","article-title":"Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome","volume":"14","author":"Bachetti","year":"2005","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0040","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.biocel.2006.08.014","article-title":"Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions","volume":"39","author":"Bachetti","year":"2007","journal-title":"International Journal of Biochemistry and Cell Biology"},{"key":"10.1016\/j.resp.2013.05.018_bib0045","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s00109-010-0718-y","article-title":"Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome","volume":"89","author":"Bachetti","year":"2011","journal-title":"Journal of Molecular Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0050","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1136\/thx.2006.068908","article-title":"Central hypoventilation with PHOX2B expansion mutation presenting in adulthood","volume":"62","author":"Barratt","year":"2007","journal-title":"Thorax"},{"key":"10.1016\/j.resp.2013.05.018_bib0055","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1164\/rccm.200602-305OC","article-title":"Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype","volume":"174","author":"Berry-Kravis","year":"2006","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0060","series-title":"Genetic Basis for Respiratory Control Disorders","first-page":"25","article-title":"Phox2b and the homeostatic brain","author":"Brunet","year":"2008"},{"key":"10.1016\/j.resp.2013.05.018_bib0065","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/path.2980","article-title":"Mouse intermittent hypoxia mimicking apnoea of prematurity: effects on myelinogenesis and axonal maturation","volume":"226","author":"Cai","year":"2012","journal-title":"Journal of Pathology"},{"key":"10.1016\/j.resp.2013.05.018_bib0070","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1152\/japplphysiol.00004.2010","article-title":"Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation","volume":"108","author":"Carroll","year":"2010","journal-title":"Journal of Applied Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0075","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.resp.2013.02.015","article-title":"Serotonergic mechanisms are necessary for central respiratory chemoresponsiveness in situ","volume":"186","author":"Corcoran","year":"2013","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0080","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.resp.2010.04.009","article-title":"The role of CO2 and central chemoreception in the control of breathing in the fetus and the neonate","volume":"173","author":"Darnall","year":"2010","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0085","doi-asserted-by":"crossref","first-page":"6635","DOI":"10.1242\/dev.00866","article-title":"Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways","volume":"130","author":"Dauger","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.resp.2013.05.018_bib0090","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/sleep\/28.2.169","article-title":"Reduced extracellular dopamine and increased responsiveness to novelty: neurochemical and behavioral sequelae of intermittent hypoxia","volume":"28","author":"Decker","year":"2005","journal-title":"Sleep"},{"key":"10.1016\/j.resp.2013.05.018_bib0095","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.nbd.2012.10.019","article-title":"Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome","volume":"50","author":"Di Lascio","year":"2013","journal-title":"Neurobiology of disease"},{"key":"10.1016\/j.resp.2013.05.018_bib0100","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.nbd.2011.09.007","article-title":"In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins","volume":"45","author":"Di Zanni","year":"2012","journal-title":"Neurobiology of Disease"},{"key":"10.1016\/j.resp.2013.05.018_bib0105","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1213\/ane.0b013e3181618669","article-title":"Xenon\/hypothermia neuroprotection regimes in spontaneously breathing neonatal rats after hypoxic\u2013ischemic insult: the respiratory and sedative effects","volume":"106","author":"Dingley","year":"2008","journal-title":"Anesthesia and Analgesia"},{"key":"10.1016\/j.resp.2013.05.018_bib0110","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1073\/pnas.0709115105","article-title":"A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons","volume":"105","author":"Dubreuil","year":"2008","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/j.resp.2013.05.018_bib0115","doi-asserted-by":"crossref","first-page":"14836","DOI":"10.1523\/JNEUROSCI.2623-09.2009","article-title":"Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons","volume":"29","author":"Dubreuil","year":"2009","journal-title":"Journal of Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0120","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1164\/rccm.200411-1528OC","article-title":"Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b","volume":"172","author":"Durand","year":"2005","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0125","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1056\/NEJMra041996","article-title":"Neonatal brain injury","volume":"351","author":"Ferriero","year":"2004","journal-title":"New England Journal of Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0130","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1002\/j.2040-4603.2012.tb00437.x","article-title":"Genetic diseases: congenital central hypoventilation, Rett, and Prader\u2013Willi syndromes","volume":"2","author":"Gallego","year":"2012","journal-title":"Comprehensive Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0135","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.resp.2010.03.014","article-title":"Central chemoreception: Lessons from mouse and human genetics","volume":"173","author":"Goridis","year":"2010","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0140","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/j.semcdb.2010.07.006","article-title":"Phox2b, congenital central hypoventilation syndrome and the control of respiration","volume":"21","author":"Goridis","year":"2010","journal-title":"Seminars in Cell and Developmental Biology"},{"key":"10.1016\/j.resp.2013.05.018_bib0145","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1126\/science.1190721","article-title":"Astrocytes control breathing through pH-dependent release of ATP","volume":"329","author":"Gourine","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.resp.2013.05.018_bib0150","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1164\/ajrccm.153.2.8564130","article-title":"Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome","volume":"153","author":"Gozal","year":"1996","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0155","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1523\/JNEUROSCI.21-07-02442.2001","article-title":"Behavioral and anatomical correlates of chronic episodic hypoxia during sleep in the rat","volume":"21","author":"Gozal","year":"2001","journal-title":"Journal of Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0160","doi-asserted-by":"crossref","first-page":"1747","DOI":"10.1164\/ajrccm.162.5.2005012","article-title":"Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome","volume":"162","author":"Gozal","year":"2000","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0165","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ppul.20744","article-title":"Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death","volume":"43","author":"Gronli","year":"2008","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.resp.2013.05.018_bib0170","series-title":"Retrotrapezoid nucleus and parafacial respiratory group","author":"Guyenet","year":"2010"},{"key":"10.1016\/j.resp.2013.05.018_bib0175","doi-asserted-by":"crossref","DOI":"10.1152\/japplphysiol.00712.2009","article-title":"Central CO2-chemoreception and integrated neural mechanisms of cardiovascular and respiratory control","author":"Guyenet","year":"2010","journal-title":"Journal of Applied Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0180","article-title":"The respiratory chemoreception conundrum: light at the end of the tunnel?","author":"Guyenet","year":"2012","journal-title":"Brain Research"},{"key":"10.1016\/j.resp.2013.05.018_bib0185","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/HJR.0b013e328033eb63","article-title":"Effects of movement and work load in patients with congenital central hypoventilation syndrome","volume":"14","author":"Hager","year":"2007","journal-title":"European Journal of Cardiovascular Prevention and Rehabilitation"},{"key":"10.1016\/j.resp.2013.05.018_bib0190","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1113\/jphysiol.1905.sp001081","article-title":"The regulation of the lung-ventilation","volume":"32","author":"Haldane","year":"1905","journal-title":"Journal of Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0195","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1152\/jn.00863.2004","article-title":"Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms","volume":"93","author":"Harper","year":"2005","journal-title":"Journal of Neurophysiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0200","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1442-200X.2011.03484.x","article-title":"Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan","volume":"54","author":"Hasegawa","year":"2012","journal-title":"Pediatrics International: Official Journal of the Japan Pediatric Society"},{"key":"10.1016\/j.resp.2013.05.018_bib0205","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.prrv.2010.10.001","article-title":"Congenital central hypoventilation syndrome in children","volume":"12","author":"Healy","year":"2011","journal-title":"Paediatric Respiratory Reviews"},{"key":"10.1016\/j.resp.2013.05.018_bib0210","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-94-007-4584-1_6","article-title":"Dose dependent effect of progesterone on hypoxic ventilatory response in newborn rats","volume":"758","author":"Hichri","year":"2012","journal-title":"Advances in Experimental Medicine and Biology"},{"key":"10.1016\/j.resp.2013.05.018_bib0215","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.resp.2011.03.020","article-title":"Altered ventilatory and thermoregulatory control in male and female adult Pet-1 null mice","volume":"177","author":"Hodges","year":"2011","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0220","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/ppul.21527","article-title":"Variable human phenotype associated with novel deletions of the PHOX2B gene","volume":"47","author":"Jennings","year":"2012","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.resp.2013.05.018_bib0225","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1002\/ppul.21450","article-title":"Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association","volume":"46","author":"Joseph","year":"2011","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.resp.2013.05.018_bib0230","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.resp.2012.07.001","article-title":"Sex, hormones, and stress: how they impact development and function of the carotid bodies and related reflexes","volume":"185","author":"Joseph","year":"2013","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0235","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/cne.21409","article-title":"Central nervous system distribution of the transcription factor Phox2b in the adult rat","volume":"503","author":"Kang","year":"2007","journal-title":"Journal of Comparative Neurology"},{"key":"10.1016\/j.resp.2013.05.018_bib0240","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1203\/01.pdr.0000176915.19287.e2","article-title":"Intermittent hypoxia during development induces long-term alterations in spatial working memory, monoamines, and dendritic branching in rat frontal cortex","volume":"58","author":"Kheirandish","year":"2005","journal-title":"Pediatric Research"},{"key":"10.1016\/j.resp.2013.05.018_bib0245","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1203\/PDR.0b013e31817da10a","article-title":"Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome","volume":"64","author":"Kumar","year":"2008","journal-title":"Pediatric Research"},{"key":"10.1016\/j.resp.2013.05.018_bib0250","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1016\/j.neuroscience.2009.07.038","article-title":"Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome","volume":"163","author":"Kumar","year":"2009","journal-title":"Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0255","doi-asserted-by":"crossref","first-page":"2146","DOI":"10.1002\/jnr.22385","article-title":"Rostral brain axonal injury in congenital central hypoventilation syndrome","volume":"88","author":"Kumar","year":"2010","journal-title":"Journal of Neuroscience Research"},{"key":"10.1016\/j.resp.2013.05.018_bib0260","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.neuroscience.2011.01.021","article-title":"Selectively diminished corpus callosum fibers in congenital central hypoventilation syndrome","volume":"178","author":"Kumar","year":"2011","journal-title":"Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0265","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/pr.2012.25","article-title":"Progressive gray matter changes in patients with congenital central hypoventilation syndrome","volume":"71","author":"Kumar","year":"2012","journal-title":"Pediatric research"},{"key":"10.1016\/j.resp.2013.05.018_bib0270","doi-asserted-by":"crossref","DOI":"10.1007\/s00431-011-1434-5","article-title":"PHOX2B mutations in patients with Ondine\u2013Hirschsprung disease and a review of the literature","author":"Kwon","year":"2011","journal-title":"European Journal of Pediatrics"},{"key":"10.1016\/j.resp.2013.05.018_bib0275","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.autneu.2012.06.005","article-title":"Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death","volume":"170","author":"Lavezzi","year":"2012","journal-title":"Autonomic Neuroscience: Basic and Clinical"},{"key":"10.1016\/j.resp.2013.05.018_bib0280","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.resp.2006.08.007","article-title":"Progesterone increases hypoxic ventilatory response and reduces apneas in newborn rats","volume":"156","author":"Lefter","year":"2007","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0285","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.resp.2008.07.026","article-title":"Contrasting effects of estradiol and progesterone on respiratory pattern and hypoxic ventilatory response in newborn male rats","volume":"164","author":"Lefter","year":"2008","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0290","first-page":"2923","volume":"vol. 2","author":"Martin","year":"2012"},{"key":"10.1016\/j.resp.2013.05.018_bib0295","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1136\/jmg.2003.015412","article-title":"PHOX2B mutations and polyalanine expansions corellate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome","volume":"41","author":"Matera","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0300","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/jhg.2012.27","article-title":"Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome","volume":"57","author":"Meguro","year":"2012","journal-title":"Journal of Human Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0305","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1002\/j.2040-4603.2011.tb00373.x","article-title":"Metabolism, temperature, and ventilation","volume":"1","author":"Mortola","year":"2011","journal-title":"Comparative Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0310","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1152\/japplphysiol.01240.2009","article-title":"Current ideas on central chemoreception by neurons and glial cells in the retrotrapezoid nucleus","volume":"108","author":"Mulkey","year":"2010","journal-title":"Journal of Applied Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0315","series-title":"Central Chemoreceptors: Locations and Functions, Comprehensive Physiology","first-page":"221","author":"Nattie","year":"2012"},{"key":"10.1016\/j.resp.2013.05.018_bib0320","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0034-5687(01)00295-X","article-title":"Central chemosensitivity, sleep, and wakefulness","volume":"129","author":"Nattie","year":"2001","journal-title":"Respiration Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0325","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1016\/j.neuroscience.2010.02.078","article-title":"Central autonomic regulation in congenital central hypoventilation syndrome","volume":"167","author":"Ogren","year":"2010","journal-title":"Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0330","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1523\/JNEUROSCI.23-04-01478.2003","article-title":"A novel functional neuron group for respiratory rhythm generation in the ventral medulla","volume":"23","author":"Onimaru","year":"2003","journal-title":"Journal of Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0335","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1399-0004.2010.01383.x","article-title":"Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation","volume":"78","author":"Parodi","year":"2010","journal-title":"Clinical Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0340","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.resp.2010.06.013","article-title":"Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation","volume":"173","author":"Patwari","year":"2010","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0345","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.resp.2012.10.008","article-title":"Peripheral chemoreceptors in congenital central hypoventilation syndrome","volume":"185","author":"Perez","year":"2013","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0350","doi-asserted-by":"crossref","first-page":"R722","DOI":"10.1152\/ajpregu.90865.2008","article-title":"Effect of menopause on the chemical control of breathing and its relationship with acid-base status","volume":"296","author":"Preston","year":"2009","journal-title":"American Journal of Physiology. Regulatory, Integrative and Comparative Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0355","doi-asserted-by":"crossref","first-page":"R1691","DOI":"10.1152\/ajpregu.00875.2005","article-title":"Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b","volume":"290","author":"Ramanantsoa","year":"2006","journal-title":"American Journal of Physiology. Regulatory, Integrative and Comparative Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0360","doi-asserted-by":"crossref","first-page":"R2027","DOI":"10.1152\/ajpregu.00349.2007","article-title":"Effects of temperature on ventilatory response to hypercapnia in newborn mice heterozygous for transcription factor Phox2b","volume":"293","author":"Ramanantsoa","year":"2007","journal-title":"American Journal of Physiology. Regulatory, Integrative and Comparative Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0365","doi-asserted-by":"crossref","first-page":"12880","DOI":"10.1523\/JNEUROSCI.1721-11.2011","article-title":"Breathing without CO2 chemosensitivity in conditional Phox2b mutants","volume":"31","author":"Ramanantsoa","year":"2011","journal-title":"The Journal of Neuroscience: the Official Journal of the Society for Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0370","doi-asserted-by":"crossref","first-page":"61","DOI":"10.3389\/fphys.2011.00061","article-title":"Impaired ventilatory and thermoregulatory responses to hypoxic stress in newborn phox2b heterozygous knock-out mice","volume":"2","author":"Ramanantsoa","year":"2011","journal-title":"Frontiers in Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0375","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1126\/science.1205295","article-title":"Impaired respiratory and body temperature control upon acute serotonergic neuron inhibition","volume":"333","author":"Ray","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.resp.2013.05.018_bib0380","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.brainres.2012.12.017","article-title":"Egr2-neurons control the adult respiratory response to hypercapnia","volume":"1511","author":"Ray","year":"2012","journal-title":"Brain Research"},{"key":"10.1016\/j.resp.2013.05.018_bib0385","doi-asserted-by":"crossref","first-page":"291","DOI":"10.2350\/09-07-0682-OA.1","article-title":"PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus","volume":"13","author":"Rudzinski","year":"2010","journal-title":"Pediatric and Developmental Pathology"},{"key":"10.1016\/j.resp.2013.05.018_bib0390","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s00439-003-1036-z","article-title":"Molecular analysis of congenital central hypoventilation syndrome","volume":"114","author":"Sasaki","year":"2003","journal-title":"Human Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0395","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1469-1809.2010.00577.x","article-title":"Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification","volume":"74","author":"Serra","year":"2010","journal-title":"Annals of Human Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0400","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0034-5687(01)00294-8","article-title":"Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome","volume":"129","author":"Spengler","year":"2001","journal-title":"Respiration Physiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0405","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1098\/rstb.2009.0082","article-title":"Chemosensory pathways in the brainstem controlling cardiorespiratory activity","volume":"364","author":"Spyer","year":"2009","journal-title":"Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences"},{"key":"10.1016\/j.resp.2013.05.018_bib0410","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1159\/000237222","article-title":"Effect of intermittent hypercapnia on respiratory control in rat pups","volume":"97","author":"Steggerda","year":"2010","journal-title":"Neonatology"},{"key":"10.1016\/j.resp.2013.05.018_bib0415","doi-asserted-by":"crossref","first-page":"10305","DOI":"10.1523\/JNEUROSCI.2917-06.2006","article-title":"Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat","volume":"26","author":"Stornetta","year":"2006","journal-title":"Journal of Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0420","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.resp.2010.03.015","article-title":"Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel","volume":"171","author":"Straus","year":"2010","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0430","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1038\/nn.2354","article-title":"Genetic identification of an embryonic parafacial oscillator coupling to the preBotzinger complex","volume":"12","author":"Thoby-Brisson","year":"2009","journal-title":"Nature Neuroscience"},{"key":"10.1016\/j.resp.2013.05.018_bib0435","series-title":"Genetic Basis for Respiratory Control Disorders","first-page":"45","article-title":"Congenital central hypoventilation syndrome: from patients to gene discovery","author":"Trang","year":"2008"},{"key":"10.1016\/j.resp.2013.05.018_bib0440","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1378\/chest.127.1.72","article-title":"The french congenital central hypoventilation syndrome registry: general data, phenotype, and genotype","volume":"127","author":"Trang","year":"2005","journal-title":"Chest"},{"key":"10.1016\/j.resp.2013.05.018_bib0445","doi-asserted-by":"crossref","first-page":"3697","DOI":"10.1093\/hmg\/ddi401","article-title":"Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction","volume":"14","author":"Trochet","year":"2005","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0450","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1086\/428366","article-title":"PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome","volume":"76","author":"Trochet","year":"2005","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0455","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/humu.20727","article-title":"Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's curse)","volume":"29","author":"Trochet","year":"2008","journal-title":"Human Mutation"},{"key":"10.1016\/j.resp.2013.05.018_bib0460","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/ppul.10438","article-title":"Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome","volume":"37","author":"Vanderlaan","year":"2004","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.resp.2013.05.018_bib0465","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1164\/rccm.200807-1069ST","article-title":"An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management","volume":"181","author":"Weese-Mayer","year":"2010","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1016\/j.resp.2013.05.018_bib0470","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/ajmg.a.20527","article-title":"Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b","volume":"123A","author":"Weese-Mayer","year":"2003","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.resp.2013.05.018_bib0475","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.resp.2005.06.010","article-title":"In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome","volume":"142","author":"Weese-Mayer","year":"2005","journal-title":"Respiratory Physiology and Neurobiology"},{"key":"10.1016\/j.resp.2013.05.018_bib0480","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1002\/ppul.21045","article-title":"Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine","volume":"44","author":"Weese-Mayer","year":"2009","journal-title":"Pediatric Pulmonology"},{"key":"10.1016\/j.resp.2013.05.018_bib0485","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/ppul.21170","article-title":"Congenital central hypoventilation syndrome: neurocognitive functioning in school age children","volume":"45","author":"Zelko","year":"2010","journal-title":"Pediatric Pulmonology"}],"container-title":["Respiratory Physiology &amp; Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569904813001584?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1569904813001584?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T22:33:07Z","timestamp":1761604387000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1569904813001584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11]]},"references-count":96,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["S1569904813001584"],"URL":"https:\/\/doi.org\/10.1016\/j.resp.2013.05.018","relation":{},"ISSN":["1569-9048"],"issn-type":[{"value":"1569-9048","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital central hypoventilation syndrome","name":"articletitle","label":"Article Title"},{"value":"Respiratory Physiology & Neurobiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.resp.2013.05.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}