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Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.
Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE. Carroll MS, et al. J Appl Physiol (1985). 2014 Feb 15;116(4):439-50. doi: 10.1152/japplphysiol.01310.2013. Epub 2013 Dec 31. J Appl Physiol (1985). 2014. PMID: 24381123
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.
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.
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
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
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
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.
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