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124 results

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Page 1
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M. Trang H, et al. Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. Orphanet J Rare Dis. 2020. PMID: 32958024 Free PMC article. Review.
BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. ...
BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypo
Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Montalva L, et al. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. Nat Rev Dis Primers. 2023. PMID: 37828049 Review.
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. ...Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndro …
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. ...Syndromes associated wi …
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk …
., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart def …
Central respiratory chemoreception.
Guyenet PG, Bayliss DA. Guyenet PG, et al. Handb Clin Neurol. 2022;188:37-72. doi: 10.1016/B978-0-323-91534-2.00007-2. Handb Clin Neurol. 2022. PMID: 35965033 Free PMC article. Review.
RTN inactivity (periodic or sustained) contributes to periodic breathing and, likely, to central sleep apnea. RTN development relies on transcription factors Egr2, Phox2b, Lbx1, and Atoh1. PHOX2B mutations cause congenital central hypoventilation syndr …
RTN inactivity (periodic or sustained) contributes to periodic breathing and, likely, to central sleep apnea. RTN development relies …
Congenital central hypoventilation syndrome: diagnosis and management.
Maloney MA, Kun SS, Keens TG, Perez IA. Maloney MA, et al. Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28. Expert Rev Respir Med. 2018. PMID: 29486608 Review.
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. ...There is currently no pharmacologic treatment proven effective in improving disease-rela
Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of brea
Control of Breathing and Central Hypoventilation Syndromes.
Baughn JM, Matarese CA. Baughn JM, et al. Sleep Med Clin. 2023 Jun;18(2):161-171. doi: 10.1016/j.jsmc.2023.01.002. Sleep Med Clin. 2023. PMID: 37120159 Review.
Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonomic dysfunction, and hypothalamic dysfunction in the rare disorders (congenital central hypoventilation syndrome and rapid- …
Control of breathing in children varies with age and sleep state. There is overlap between central hypoventilation, autonomic …
Congenital central hypoventilation syndrome.
Ramanantsoa N, Gallego J. Ramanantsoa N, et al. Respir Physiol Neurobiol. 2013 Nov 1;189(2):272-9. doi: 10.1016/j.resp.2013.05.018. Epub 2013 May 18. Respir Physiol Neurobiol. 2013. PMID: 23692929 Free article. Review.
Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. ...
Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation during sleep and impaired
Congenital hypoventilation syndromes.
Lesser DJ, Ward SL, Kun SS, Keens TG. Lesser DJ, et al. Semin Respir Crit Care Med. 2009 Jun;30(3):339-47. doi: 10.1055/s-0029-1222448. Epub 2009 May 18. Semin Respir Crit Care Med. 2009. PMID: 19452394 Review.
Although rare, congenital hypoventilation syndromes profoundly impact affected patients and families. In some diseases, such as congenital central hypoventilation syndrome (CCHS), hypoventilation is a key presenting feature. ...
Although rare, congenital hypoventilation syndromes profoundly impact affected patients and families. In some diseases, such a …
Congenital central hypoventilation syndrome: An overview of etiopathogenesis, associated pathologies, clinical presentation, and management.
Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA. Zaidi S, et al. Auton Neurosci. 2018 Mar;210:1-9. doi: 10.1016/j.autneu.2017.11.003. Epub 2017 Nov 13. Auton Neurosci. 2018. PMID: 29249648 Review.
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO(2) receptors in th
Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characteri
Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.
Moreira TS, Takakura AC, Czeisler C, Otero JJ. Moreira TS, et al. J Neurophysiol. 2016 Aug 1;116(2):742-52. doi: 10.1152/jn.00026.2016. Epub 2016 May 25. J Neurophysiol. 2016. PMID: 27226447 Free PMC article. Review.
The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital cen
The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptor …
124 results