Berry-Kravis EM - Search Results

1

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT. Barclay SF, et al. Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x. Orphanet J Rare Dis. 2015. PMID: 26302956 Free PMC article.

2

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

3

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.

4

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

5

Monozygotic twins discordant for ROHHAD phenotype.

Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE. Patwari PP, et al. Pediatrics. 2011 Sep;128(3):e711-5. doi: 10.1542/peds.2011-0155. Epub 2011 Aug 1. Pediatrics. 2011. PMID: 21807698

6

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE. Barclay SF, et al. Respir Physiol Neurobiol. 2016 Jan 15;221:59-63. doi: 10.1016/j.resp.2015.11.002. Epub 2015 Nov 10. Respir Physiol Neurobiol. 2016. PMID: 26555080

7

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

8

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

9

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.

Weese-Mayer DE, Berry-Kravis EM. Weese-Mayer DE, et al. Am J Respir Crit Care Med. 2004 Jul 1;170(1):16-21. doi: 10.1164/rccm.200402-245PP. Epub 2004 Apr 22. Am J Respir Crit Care Med. 2004. PMID: 15105164 Review. No abstract available.

10

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.

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