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Items: 1 to 20 of 156

1.

[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].

Hayasaka K, Sasaki A.

Nihon Rinsho. 2014 Feb;72(2):363-70. Review. Japanese.

PMID:
24605541
2.

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE.

Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20.

PMID:
22821709
3.

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.

Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.

Neurobiol Dis. 2013 Feb;50:187-200. doi: 10.1016/j.nbd.2012.10.019. Epub 2012 Oct 25.

PMID:
23103552
4.

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
5.

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.

6.

Congenital central hypoventilation syndrome.

Ramanantsoa N, Gallego J.

Respir Physiol Neurobiol. 2013 Nov 1;189(2):272-9. doi: 10.1016/j.resp.2013.05.018. Epub 2013 May 18. Review.

PMID:
23692929
7.

Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.

Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K.

Pediatr Pulmonol. 2014 Feb;49(2):E13-6. doi: 10.1002/ppul.22731. Epub 2013 Mar 4.

PMID:
23460419
8.

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.

Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K.

J Hum Genet. 2012 May;57(5):335-7. doi: 10.1038/jhg.2012.27. Epub 2012 Mar 22.

PMID:
22437207
9.

Congenital central hypoventilation syndrome with PHOX2B gene mutation.

Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM.

Indian J Pediatr. 2012 Nov;79(11):1526-8. doi: 10.1007/s12098-012-0789-6. Epub 2012 Jun 7.

PMID:
22674249
10.

Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?

Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V.

Indian J Pediatr. 2013 Aug;80(8):688-90. doi: 10.1007/s12098-012-0837-2. Epub 2012 Jul 25.

PMID:
22829249
11.

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.

Am J Med Genet A. 2003 Dec 15;123A(3):267-78.

PMID:
14608649
12.

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
13.

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.

Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Review.

PMID:
19422034
14.

Haddad syndrome.

Ławicka M, Sawicka J, Bąkowska G.

Anaesthesiol Intensive Ther. 2013 Jan-Mar;45(1):30-2. doi: 10.5603/AIT.2013.0006.

15.

[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; sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society.

Rev Mal Respir. 2013 Oct;30(8):706-33. doi: 10.1016/j.rmr.2013.03.007. Epub 2013 Jun 4. French. No abstract available.

PMID:
24182656
16.

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. Epub 2006 Aug 3.

PMID:
16888290
17.

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.

Diagn Mol Pathol. 2010 Dec;19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff.

PMID:
21051998
18.

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

Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.

Pediatr Pulmonol. 2014 Mar;49(3):E45-7. doi: 10.1002/ppul.22790. Epub 2013 Mar 4.

PMID:
23460545
19.

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
20.

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I.

Hum Mutat. 2008 Jan;29(1):206.

PMID:
18157832

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