Weese-Mayer DE - Search Results

1

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.

Armstrong AE, Weese-Mayer DE, Mian A, Maris JM, Batra V, Gosiengfiao Y, Reichek J, Madonna MB, Bush JW, Shore RM, Walterhouse DO. Armstrong AE, et al. Pediatr Blood Cancer. 2015 Nov;62(11):2007-10. doi: 10.1002/pbc.25572. Epub 2015 May 22. Pediatr Blood Cancer. 2015. PMID: 26011159

2

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. Silvestri JM, et al. Am J Med Genet. 2002 Sep 15;112(1):46-50. doi: 10.1002/ajmg.10819. Am J Med Genet. 2002. PMID: 12239719

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

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.

5

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

6

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

7

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

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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