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Items: 1 to 20 of 124

1.

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.

Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Maher BS, Cooper ME, Marazita ML.

Am J Med Genet. 2001 May 1;100(3):237-45.

PMID:
11343310
2.

Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome.

Marazita ML, Maher BS, Cooper ME, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Weese-Mayer DE.

Am J Med Genet. 2001 May 1;100(3):229-36.

PMID:
11343309
3.

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
4.

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.

Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.

PMID:
18579454
5.

Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.

Patwari PP, Stewart TM, Rand CM, Carroll MS, Kuntz NL, Kenny AS, Brogadir CD, Weese-Mayer DE.

Pediatr Res. 2012 Mar;71(3):280-5. doi: 10.1038/pr.2011.38. Epub 2012 Jan 25.

PMID:
22278185
6.

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.

Pediatr Pulmonol. 2008 Jan;43(1):77-86.

PMID:
18041756
7.

Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.

Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A.

Am J Med Genet. 2002 Feb 1;107(4):306-10.

PMID:
11840487
8.

Idiopathic congenital central hypoventilation syndrome: the next generation.

Silvestri JM, Chen ML, Weese-Mayer DE, McQuitty JM, Carveth HJ, Nielson DW, Borowitz D, Cerny F.

Am J Med Genet. 2002 Sep 15;112(1):46-50.

PMID:
12239719
9.

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Weese-Mayer DE, Berry-Kravis EM, Marazita ML.

Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.

PMID:
16054879
10.

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
11.

Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome.

Weese-Mayer DE, Silvestri JM, Marazita ML, Hoo JJ.

Am J Med Genet. 1993 Sep 1;47(3):360-7. Review.

PMID:
8135282
12.

Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome.

Silvestri JM, Hanna BD, Volgman AS, Jones PJ, Barnes SD, Weese-Mayer DE.

Pediatr Pulmonol. 2000 May;29(5):351-8.

PMID:
10790246
13.

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].

14.

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
15.

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.

Grigg-Damberger M, Wells A.

Semin Respir Crit Care Med. 2009 Jun;30(3):262-74. doi: 10.1055/s-0029-1222440. Epub 2009 May 18. Review.

PMID:
19452387
16.

Congenital Central Hypoventilation Syndrome.

Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jan 28 [updated 2014 Jan 30].

17.

A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.

Trobliger R, Zaroff CM, Grayson RH, Higgins JJ.

Child Neuropsychol. 2010;16(2):202-8. doi: 10.1080/09297040903266897.

PMID:
19813116
18.

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome.

Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D.

Pediatr Pulmonol. 2004 Mar;37(3):217-29.

PMID:
14966815
19.

Monozygotic twins discordant for ROHHAD phenotype.

Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE.

Pediatrics. 2011 Sep;128(3):e711-5. doi: 10.1542/peds.2011-0155. Epub 2011 Aug 1.

PMID:
21807698
20.

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR.

Clin Genet. 2010 Sep;78(3):289-93. doi: 10.1111/j.1399-0004.2010.01383.x. Epub 2010 Feb 11.

PMID:
20236122

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