Berry-Kravis E - Search Results

1

TECPR2 mutation-associated respiratory dysregulation: more than central apnea.

Patwari PP, Wolfe LF, Sharma GD, Berry-Kravis E. Patwari PP, et al. J Clin Sleep Med. 2020 Jun 15;16(6):977-982. doi: 10.5664/jcsm.8434. J Clin Sleep Med. 2020. PMID: 32209221 Free PMC article. Review.

2

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. Weese-Mayer DE, et al. Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Pediatr Pulmonol. 2009. PMID: 19422034 Review.

3

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

4

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE. Jennings LJ, et al. Pediatr Pulmonol. 2012 Feb;47(2):153-61. doi: 10.1002/ppul.21527. Epub 2011 Aug 9. Pediatr Pulmonol. 2012. PMID: 21830319

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

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).

Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. Zhou A, et al. Genet Med. 2021 Sep;23(9):1656-1663. doi: 10.1038/s41436-021-01178-x. Epub 2021 May 6. Genet Med. 2021. PMID: 33958749 Free article.

7

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Rand CM, et al. Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821709

8

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

9

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML. Todd ES, et al. Pediatrics. 2006 Aug;118(2):e408-14. doi: 10.1542/peds.2005-3134. Pediatrics. 2006. PMID: 16882781

10

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

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