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Items: 10


Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series.

Bygarski E, Paterson M, Lemire EG.

J Med Case Rep. 2013 Apr 26;7:117. doi: 10.1186/1752-1947-7-117.


Haddad syndrome with PHOX2B gene mutation in a Korean infant.

Lee CW, Lee JH, Jung EY, Choi SO, Kim CS, Lee SL, Kim DK.

J Korean Med Sci. 2011 Feb;26(2):312-5. doi: 10.3346/jkms.2011.26.2.312. Epub 2011 Jan 24.


The intrinsic innervation of the lung is derived from neural crest cells as shown by optical projection tomography in Wnt1-Cre;YFP reporter mice.

Freem LJ, Escot S, Tannahill D, Druckenbrod NR, Thapar N, Burns AJ.

J Anat. 2010 Dec;217(6):651-64. doi: 10.1111/j.1469-7580.2010.01295.x. Epub 2010 Sep 14.


Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.

Patwari PP, Carroll MS, Rand CM, Kumar R, Harper R, Weese-Mayer DE.

Respir Physiol Neurobiol. 2010 Oct 31;173(3):322-35. doi: 10.1016/j.resp.2010.06.013. Epub 2010 Jun 30. Review.


Obstructive sleep apnea syndrome: from phenotype to genetic basis.

Casale M, Pappacena M, Rinaldi V, Bressi F, Baptista P, Salvinelli F.

Curr Genomics. 2009 Apr;10(2):119-26. doi: 10.2174/138920209787846998.


Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J.

J Med Genet. 2006 May;43(5):419-23. Epub 2006 Jan 27.


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].


Pbx3 deficiency results in central hypoventilation.

Rhee JW, Arata A, Selleri L, Jacobs Y, Arata S, Onimaru H, Cleary ML.

Am J Pathol. 2004 Oct;165(4):1343-50.


Quality of life in spina bifida: importance of parental hope.

Kirpalani HM, Parkin PC, Willan AR, Fehlings DL, Rosenbaum PL, King D, Van Nie AJ.

Arch Dis Child. 2000 Oct;83(4):293-7.

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