Berry-Kravis EM - Search Results

1

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE. Jennings LJ, et al. Diagn Mol Pathol. 2010 Dec;19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff. Diagn Mol Pathol. 2010. PMID: 21051998

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

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.

4

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

5

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.

6

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.

7

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

8

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

9

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Berry-Kravis EM, et al. Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. doi: 10.1164/rccm.200602-305OC. Epub 2006 Aug 3. Am J Respir Crit Care Med. 2006. PMID: 16888290

10

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.

Diedrich A, Malow BA, Antic NA, Sato K, McEvoy RD, Mathias CJ, Robertson D, Berry-Kravis EM, Weese-Mayer DE. Diedrich A, et al. Clin Auton Res. 2007 Jun;17(3):177-85. doi: 10.1007/s10286-007-0421-4. Epub 2007 May 31. Clin Auton Res. 2007. PMID: 17541758

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