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Items: 1 to 20 of 105

1.

Proceedings of the fourth international conference on central hypoventilation.

Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium.

Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. Review.

2.

Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan.

Hasegawa H, Kawasaki K, Inoue H, Umehara M, Takase M; Japanese Society of Pediatric Pulmonology Working Group (JSPPWG).

Pediatr Int. 2012 Feb;54(1):123-6. doi: 10.1111/j.1442-200X.2011.03484.x. Epub 2011 Nov 29.

PMID:
21958325
3.

Congenital central hypoventilation syndrome in children.

Healy F, Marcus CL.

Paediatr Respir Rev. 2011 Dec;12(4):253-63. doi: 10.1016/j.prrv.2010.10.001. Epub 2011 Apr 16. Review.

PMID:
22018041
4.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].

García Teresa MA, Porto Abal R, Rodríguez Torres S, García Urabayen D, García Martínez S, Trang H, Campos Barros A; Grupo Español de Trabajo del SHCC, Llorente de la Fuente A, Hernández González A, Bustinza Arriortua A, de la Cruz Moreno J, Pons Odena M, Ventura Faci P, Rubio Ortega L, Pérez Ruiz E, Aguilar Fernández A, Pérez Ocón A, Osona B, Delgado Pecellin I, Arroyo Carrera I, Sayas Catalán J, González Salas E, de Vicente CM.

An Pediatr (Barc). 2017 May;86(5):255-263. doi: 10.1016/j.anpedi.2016.05.008. Epub 2016 Jul 1. Spanish.

5.

Congenital central hypoventilation syndrome: diagnosis and management.

Maloney MA, Kun SS, Keens TG, Perez IA.

Expert Rev Respir Med. 2018 Apr;12(4):283-292. doi: 10.1080/17476348.2018.1445970. Epub 2018 Feb 28. Review.

PMID:
29486608
6.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.

Magalhães J, Madureira N, Medeiros R, Fernandes PC, Oufadem M, Amiel J, Estêvão MH, Reis MG.

Sleep Breath. 2015 Mar;19(1):55-60. doi: 10.1007/s11325-014-0996-7. Epub 2014 May 4.

PMID:
24792884
7.

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE.

Pediatr Res. 2017 Jan;81(1-2):192-201. doi: 10.1038/pr.2016.196. Epub 2016 Sep 27. Review.

PMID:
27673423
8.

Congenital central hypoventilation syndrome: a case report.

Crowell BA, Bissinger RL, Conway-Orgel M.

Adv Neonatal Care. 2011 Jun;11(3):167-72. doi: 10.1097/ANC.0b013e31821cfe26.

PMID:
21730909
9.

Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes.

Gallego J.

Compr Physiol. 2012 Jul;2(3):2255-79. doi: 10.1002/cphy.c100037. Review.

PMID:
23723037
10.

[Congenital central hypoventilation syndrome diagnosed in a two-year-old girl].

Träger MH, Mieszczanek TS.

Ugeskr Laeger. 2015 Sep 14;177(38):V04150352. Danish.

PMID:
26376420
11.

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.

Marion TL, Bradshaw WT.

Neonatal Netw. 2011 Nov-Dec;30(6):397-401. doi: 10.1891/0730-0832.30.6.397. Review.

PMID:
22052119
12.

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K.

J Hum Genet. 2015 Sep;60(9):473-7. doi: 10.1038/jhg.2015.65. Epub 2015 Jun 11.

PMID:
26063465
13.

[The congenital central hypoventilation syndrome (CCHS): a late presentation].

Lamon T, Pontier S, Têtu L, Riviere D, Didier A.

Rev Mal Respir. 2012 Mar;29(3):426-9. doi: 10.1016/j.rmr.2011.09.047. Epub 2012 Feb 15. French.

PMID:
22440308
14.

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE.

Pediatr Pulmonol. 2012 Feb;47(2):153-61. doi: 10.1002/ppul.21527. Epub 2011 Aug 9.

PMID:
21830319
15.

Neurally adjusted ventilatory assist (NAVA) mode as an adjunct diagnostic tool in congenital central hypoventilation syndrome.

Rahmani A, Ur Rehman N, Chedid F.

J Coll Physicians Surg Pak. 2013 Feb;23(2):154-6. doi: 02.2013/JCPSP.154156.

PMID:
23374524
16.

[Congenital central hypoventilation syndrome, report of three cases].

Wang Y, He XY, Yang Y, Chen XC.

Zhonghua Er Ke Za Zhi. 2013 Nov;51(11):852-5. Chinese.

PMID:
24484562
17.

Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.

Joseph L, Goldberg S, Shahroor S, Gomori M, Mimouni FB, Picard E.

Pediatr Pulmonol. 2011 Aug;46(8):826-8. doi: 10.1002/ppul.21450. Epub 2011 Apr 4.

PMID:
21465679
18.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee.

Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.

PMID:
20208042
19.

Monitoring diaphragm electrical activity and the detection of congenital central hypoventilation syndrome in a newborn.

Szczapa T, Beck J, Migdal M, Gadzinowski J.

J Perinatol. 2013 Nov;33(11):905-7. doi: 10.1038/jp.2013.89.

PMID:
24169930
20.

A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.

Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H.

J Clin Sleep Med. 2014 Mar 15;10(3):327-9. doi: 10.5664/jcsm.3542.

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