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Results: 1 to 20 of 118

Similar articles for PubMed (Select 11343309)

1.

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
2.

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
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.

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
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.

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
8.

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
9.

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
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.

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].

12.

Autonomic function in children with congenital central hypoventilation syndrome and their families.

O'Brien LM, Holbrook CR, Vanderlaan M, Amiel J, Gozal D.

Chest. 2005 Oct;128(4):2478-84.

PMID:
16236912
13.

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

Lee P, Su YN, Yu CJ, Yang PC, Wu HD.

Chest. 2009 Feb;135(2):537-44. doi: 10.1378/chest.08-1664.

PMID:
19201717
14.

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
15.

Genetic segregation analysis of recurrent, early-onset major depression: evidence for single major locus transmission.

Maher BS, Marazita ML, Zubenko WN, Spiker DG, Giles DE, Kaplan BB, Zubenko GS.

Am J Med Genet. 2002 Mar 8;114(2):214-21.

PMID:
11857584
16.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
17.

Genetic segregation analysis of alcohol and other substance-use disorders in families with recurrent, early-onset major depression.

Maher BS, Marazita ML, Zubenko WN, Kaplan BB, Zubenko GS.

Am J Drug Alcohol Abuse. 2002 Nov;28(4):711-31.

PMID:
12492266
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.

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
20.

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
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