Letteratura scientifica

Weese-Mayer DE, Shannon CD, Keens GT and Silvestri JM. Idiophatic congenital hypoventilation syndrome diagnosis and management. Am J Respir Crit Care Med 160:368-373, 1999.

Vanderlaan M, Holbrook CR, Wang M, Tuell A and Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 37:217-229, 2004.

Bachetti T, A Robbiano, S Parodi, I Matera, E Merello, V Capra, MP Baglietto, A Rossi, I Ceccherini and G Ottonello. Brainstem Anomalies in two Patients Affected by Congenital Central Hypoventilation Syndrome. Am J Respir Crit Care Med 174:706-709, 2006

Amiel J, Laudier B, Attiè-Bitach T, Trang H, De Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C and Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459-461, 2003.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME and Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b. Am J Med Genet 123:267-278, 2003.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, Ravazzolo R, Ottonello G and Ceccherini I. PHOX2B mutations and polyalanine expansions correlate with the severità of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 41:373-380, 2004.

Brunet JF, Pattyn A. Phox2 genes from patterning to connectivity. Curr Opin Genet Dev 12:435-440, 2002.

Trochet D, O’Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gautier C, Lyonnet S and Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76:421-426, 2005.

Berry-Kravis EM, Zhou L, Casey M, Rand BS, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 174:1139-1144, 2006.

Bachetti T, Borghini S, Ravazzolo R and Ceccherini I. An in vitro approach to test the possibile role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expr 12:137-149, 2005.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D., Ravazzolo R and Ceccherini I. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest derived cells. Biochem J 395:355-361, 2006

Flora A, Lucchetti H, Benfante R, Goridis C, Clementi F and Fornasari D. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. J Neurosci 21:7037-7045, 2001.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R and Ceccherini I. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 14:1815-1824, 2005.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. Int J Biochem Cell Biology, 39:327-339, 2007

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. Hum Mutat, in press

Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B Mutation–confirmed Congenital Central Hypoventilation Syndrome. Presentation in Adulthood. Am J Resp Crit Care Med 174:923-927, 2006