Berry-Kravis EM - Search Results

1

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.

Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJ, Bech-Hansen T, Weese-Mayer DE. Rand CM, et al. Pediatr Res. 2011 Oct;70(4):375-8. doi: 10.1203/PDR.0b013e318229474d. Pediatr Res. 2011. PMID: 21691246

2

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE. Sivan Y, et al. Am J Med Genet A. 2019 Mar;179(3):503-506. doi: 10.1002/ajmg.a.61047. Epub 2019 Jan 23. Am J Med Genet A. 2019. PMID: 30672101

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. Weese-Mayer DE, et al. Am J Med Genet A. 2003 Dec 15;123A(3):267-78. doi: 10.1002/ajmg.a.20527. Am J Med Genet A. 2003. PMID: 14608649

4

Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML. Weese-Mayer DE, et al. Pediatr Res. 2004 Sep;56(3):391-5. doi: 10.1203/01.PDR.0000136285.91048.4A. Epub 2004 Jul 7. Pediatr Res. 2004. PMID: 15240857

5

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

Weese-Mayer DE, Berry-Kravis EM, Marazita ML. Weese-Mayer DE, et al. Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. doi: 10.1016/j.resp.2005.06.010. Epub 2005 Jul 28. Respir Physiol Neurobiol. 2005. PMID: 16054879 Review.

6

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.

Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE. Todd ES, et al. Pediatr Res. 2006 Jan;59(1):39-45. doi: 10.1203/01.pdr.0000191814.73340.1d. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16327002

7

Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.

Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Rand CM, et al. Pediatr Res. 2007 Aug;62(2):180-2. doi: 10.1203/PDR.0b013e3180a725a0. Pediatr Res. 2007. PMID: 17597646

8

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Ize-Ludlow D, et al. Pediatrics. 2007 Jul;120(1):e179-88. doi: 10.1542/peds.2006-3324. Pediatrics. 2007. PMID: 17606542

9

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

Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Gronli JO, et al. Pediatr Pulmonol. 2008 Jan;43(1):77-86. doi: 10.1002/ppul.20744. Pediatr Pulmonol. 2008. PMID: 18041756

10

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. Weese-Mayer DE, et al. Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Respir Physiol Neurobiol. 2008. PMID: 18579454 Review.

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