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Items: 1 to 20 of 223

1.

Molecular analysis of congenital central hypoventilation syndrome.

Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K.

Hum Genet. 2003 Dec;114(1):22-6. Epub 2003 Oct 18.

PMID:
14566559
2.

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.

Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K.

Tohoku J Exp Med. 2002 Apr;196(4):241-6.

3.

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

Serra A, Görgens H, Alhadad K, Fitze G, Schackert HK.

Ann Hum Genet. 2010 Jul;74(4):369-74. doi: 10.1111/j.1469-1809.2010.00577.x. Epub 2010 Apr 25.

4.

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
5.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J.

Hum Mol Genet. 2003 Dec 1;12(23):3173-80. Epub 2003 Oct 7.

6.

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK.

Clin Chem. 2004 Jan;50(1):93-100. Epub 2003 Nov 18.

7.

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.

Hum Mutat. 2000;15(5):418-29.

PMID:
10790203
8.

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

Kwon MJ, Lee GH, Lee MK, Kim JY, Yoo HS, Ki CS, Chang YS, Kim JW, Park WS.

Eur J Pediatr. 2011 Oct;170(10):1267-71. doi: 10.1007/s00431-011-1434-5. Epub 2011 Mar 4.

PMID:
21373876
9.
10.

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.

Nat Genet. 2003 Apr;33(4):459-61. Epub 2003 Mar 17.

PMID:
12640453
11.

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
12.

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J.

Am J Hum Genet. 2005 Mar;76(3):421-6. Epub 2005 Jan 18. Erratum in: Am J Hum Genet. 2005 Apr;76(4):715. Niemann, Stephan [added].

13.

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
14.

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

Hung CC, Su YN, Tsao PN, Chen PC, Lin SJ, Lin CH, Mu SC, Liu CA, Chang YC, Lin WL, Hsieh WS, Hsu SM.

Electrophoresis. 2007 Mar;28(6):894-9.

PMID:
17300129
15.

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Müntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A.

Gut. 2001 May;48(5):671-5.

18.

Mutational analysis of the RET and GDNF gene in children with hypoganglionosis.

Inoue K, Shimotake T, Tomiyama H, Iwai N.

Eur J Pediatr Surg. 2001 Apr;11(2):120-3.

PMID:
11371032
19.

Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome.

Kijima K, Sasaki A, Niki T, Umetsu K, Osawa M, Matoba R, Hayasaka K.

Tohoku J Exp Med. 2004 May;203(1):65-8.

20.

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Hennewig U, Hadzik B, Vogel M, Meissner T, Goecke T, Peters H, Selzer G, Mayatepek E, Hoehn T.

J Hum Genet. 2008;53(6):573-7. doi: 10.1007/s10038-008-0275-1. Epub 2008 Mar 14.

PMID:
18340402
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