Research Topics
Genomes and Genes | Debra E Weese-MayerSummaryAffiliation: Rush North Shore Medical Center Country: USA Publications
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Publications
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndromeDebra E Weese-Mayer
Pediatric Respiratory Medicine at Rush Children s Hospital, Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Respir Physiol Neurobiol 149:73-82. 2005....- Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic developmentDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, IL 60612, USA
Pediatr Res 56:391-5. 2004..These data represent further refinement of the genetic profile that might place an infant at risk for SIDS... - Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan diseaseDebra E Weese-Mayer
Pediatric Respiratory Medicine, Rush Children's Hospital, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Respir Crit Care Med 170:16-21. 2004 - Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndromeDebra E Weese-Mayer
Pediatric Respiratory Medicine, Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Res 60:443-9. 2006..This dysregulation may offer insight into the mechanisms that render girls with RS more vulnerable to sudden death... - Sudden Infant Death Syndrome: review of implicated genetic factorsDebra E Weese-Mayer
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA
Am J Med Genet A 143:771-88. 2007.... - Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter geneDebra E Weese-Mayer
Department of Pediatrics, Rush University, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 117:268-74. 2003.... - Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2bDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, Chicago, Illinois 60612, USA
Am J Med Genet A 123:267-78. 2003.... 
Variable human phenotype associated with novel deletions of the PHOX2B geneLawrence J Jennings
Department of Pathology, Children s Memorial Hospital, 2300 Children s Plaza, Chicago, Illinois, USA
Pediatr Pulmonol 47:153-61. 2012..The objective of this study was to determine if PHOX2B exon or whole gene deletion/duplication would be identified in a subset of patients referred for PHOX2B testing...- Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndromeEmily S Todd
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatrics 118:e408-14. 2006..An expanded congenital central hypoventilation syndrome data set to include the full spectrum of PHOX2B mutations is necessary to further delineate the role of PHOX2B in dermatoglyphic patterning... - Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B geneCasey M Rand
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Am J Med Genet A 140:1687-91. 2006 - Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysisDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 122:238-45. 2003.... - Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordingsDebra E Weese-Mayer
Pediatric Respiratory Medicine, Rush University Medical Center, Chicago, Illinois, USA
Pediatr Pulmonol 43:1045-60. 2008..This uncoupling may represent a mechanism that renders the girls with RS more vulnerable to sudden death... - Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genesCasey M Rand
Department of Pediatrics, Children s Memorial Hospital, Chicago, IL 60614, USA
Pediatr Res 70:375-8. 2011..This report provides evidence that variation of the HTR1A, OTP, and PACAP genes are not responsible for ROHHAD. These results represent a further step in the investigation of the genetic determinants of ROHHAD... - Infant polysomnography: reliability and validity of infant arousal assessmentDavid H Crowell
Department of Pediatrics, John A Burns School of Medicine, University of Hawaii and Kapi olani Medical Center for Women and Children, Honolulu, HI 96826, USA
J Clin Neurophysiol 19:469-83. 2002..Alternate evaluation based on concordance agreements supports reliance on infant EEG criteria for assessment. Results mandate additional confirmatory validation studies with specific training on infant EEG arousal assessment criteria... - Monozygotic twins discordant for ROHHAD phenotypePallavi P Patwari
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Children s Memorial Hospital, 2300 Children s Plaza, Box 165, Chicago, IL 60614, USA
Pediatrics 128:e711-5. 2011..These cases confound the hypothesis of a monogenic etiology for ROHHAD and indicate alternative etiologies including autoimmune or epigenetic phenomenon or a combination of genetic predisposition and acquired precipitant... - Sudden infant death syndrome: rare mutation in the serotonin system FEV geneCasey M Rand
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Res 62:180-2. 2007.... - Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)Casey M Rand
Center for Autonomic Medicine in Pediatrics, Ann and Robert H Lurie Children s Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
Am J Med Genet A 158:2297-301. 2012.... - Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulationPallavi P Patwari
Department of Pediatrics, Center for Autonomic Medicine in Pediatrics, Children s Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Pediatr Res 71:280-5. 2012..We hypothesized that quantitative pupil measures, obtained using pupillometry, would vary between cases with CCHS and controls and within those with CCHS by PHOX2B genotype... - Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicineDebra E Weese-Mayer
Department of Pediatrics, Children s Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, IL 60614, USA
Pediatr Pulmonol 44:521-35. 2009.... - Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden deathJerome O Gronli
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Pulmonol 43:77-86. 2008..We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval (QTc)... - Precursors of cardiorespiratory events in infants detected by home memory monitorCarl E Hunt
Department of Pediatrics, University of Toledo Health Sciences Center, Toledo, Ohio 43699, USA
Pediatr Pulmonol 43:87-98. 2008..Thus, conventional and extreme events do not occur de novo but rather are preceded by autonomic instability of the cardiorespiratory system... - Familial dysautonomia: frequent, prolonged and severe hypoxemia during wakefulness and sleepDebra E Weese-Mayer
Pediatric Respiratory Medicine, Rush University Medical Center, Chicago, Illinois, USA corrected
Pediatr Pulmonol 43:251-60. 2008..We hypothesize that the related repeated hypoxemia (and presumed related hypercarbia) may render individuals with FD more vulnerable to sudden death... 
Longitudinal assessment of hemoglobin oxygen saturation in preterm and term infants in the first six months of lifeCarl E Hunt
Department of Pediatrics, University of Toledo Health Sciences Center, Toledo, OH, USA
J Pediatr 159:377-383.e1. 2011..To report longitudinal home recordings of hemoglobin O(2) saturation by pulse oximetry (Spo(2)) during unperturbed sleep in preterm and term infants...- Congenital central hypoventilation syndrome: neurocognitive functioning in school age childrenFrank A Zelko
Department of Child and Adolescent Psychiatry, Children s Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60614, USA
Pediatr Pulmonol 45:92-8. 2010..Examine indices of neurocognitive functioning in children with PHOX2B mutation-confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of PHOX2B genotype, demographics, and disease severity... - Congenital central hypoventilation syndrome: PHOX2B mutations and phenotypeElizabeth M Berry-Kravis
Department of Neurology, Rush University Medical Center, Chicago, IL, USA
Am J Respir Crit Care Med 174:1139-44. 2006.... - Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphologyEmily S Todd
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Pediatr Res 59:39-45. 2006..These results suggest a characteristic facial phenotype in children and young adults with CCHS, due to an expansion mutation in PHOX2B... - Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndromeCasey M Rand
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Am J Med Genet A 140:1447-52. 2006..A prospective study of SIDS cases with nicotine exposure history is necessary to resolve the relationship between nicotine metabolizing genes and SIDS... - Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriersLawrence J Jennings
Department of Pathology, Children s Memorial Hospital, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Chicago, IL 60614, USA
Diagn Mol Pathol 19:224-31. 2010..These results can help guide clinicians when choosing a CCHS/PHOX2B clinical diagnostic testing method and interpreting results... - Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomiaMichael S Carroll
Center for Autonomic Medicine in Pediatrics, Children s Memorial Hospital, Chicago, Illinois 60614, USA
Pediatr Pulmonol 47:682-91. 2012..controls). These results suggest withdrawal of vagal, rather than sympathetic tone, as a cause for the sustained increase and dramatic lability in respiration and heart rates that characterize this disorder... - Ontogeny of arousalDavid H Crowell
Department of Pediatrics, John A Burns School of Medicine, University of Hawaii at Manoa, Kapi olani Medical Center for Women and Children, Honolulu, Hawaii 96826, USA
J Clin Neurophysiol 21:290-300. 2004.... - Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulationDebra E Weese-Mayer
Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics, Children s Memorial Hospital, 2300 Children s Plaza, Chicago, IL 60614, USA
Respir Physiol Neurobiol 164:38-48. 2008..The purpose of this article is to review the current understanding of the genetic basis for CCHS and SIDS, and discuss the impact of this information on clinical practice and future research directions... - HTR2A variation and sudden infant death syndrome: a case-control analysisCasey M Rand
Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, IL, USA
Acta Paediatr 98:58-61. 2009..The objective of this study was to examine the relationship between SIDS risk and HTR2A variation... - Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhoodDiego Ize Ludlow
Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Pediatrics 120:e179-88. 2007..The goal was to characterize the phenotype and potential candidate genes responsible for the syndrome of late-onset central hypoventilation with hypothalamic dysfunction... - Factors that influence use of a home cardiorespiratory monitor for infants: the collaborative home infant monitoring evaluationJean M Silvestri
Department of Pediatrics, Rush Medical College of Rush University, Rush Children's Hospital, Chicago, IL, USA
Arch Pediatr Adolesc Med 159:18-24. 2005..The study suggests that a major focus of home monitoring should be adherence in the first week, although it remains to be tested whether this adherence can be altered... - Genetic variation in the HTR1A gene and sudden infant death syndromeMegan E Morley
Department of Pediatrics, Rush Children's Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
Am J Med Genet A 146:930-3. 2008 - Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variationDebra E Weese-Mayer
Department of Pediatrics, Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, Rush University, Chicago, Illinois, USA
Am J Med Genet 107:306-10. 2002..Absence of this mutation in 40 controls confirmed that this mutation was likely not a common polymorphism. These data further support a genetic basis for CCHS, though mutations of BDNF are not consistent in this disorder... - Sleep architecture in term and preterm infants beyond the neonatal period: the influence of gestational age, steroids, and ventilatory supportToke Hoppenbrouwers
Department of Pediatrics, Division of Neonatology and Neonatal Medicine, University of Southern California, Keck School of Medicine, Los Angeles, USA
Sleep 28:1428-36. 2005.... - Effect of a sudden infant death syndrome risk reduction education program on risk factor compliance and information sources in primarily black urban communitiesKenneth A Rasinski
National Opinion Research Center at the University of Chicago, Chicago, Illinois 60637, USA
Pediatrics 111:e347-54. 2003..The continued racial disparity in SIDS is thought to be attributable to lack of compliance with SIDS risk reduction recommendations... - An 8-month old infant discovered to be blue and not breathing during sleepJean M Silvestri
Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, 1653 West Congress Parkway, Chicago, IL 60612, USA
Paediatr Respir Rev 3:91-2, 95. 2002 - Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulationMichael S Carroll
Center for Autonomic Medicine in Pediatrics, Children s Memorial Hospital, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60614, USA
J Appl Physiol 108:979-88. 2010.... - Sudden infant death syndrome: another year of new hope but no cureDarius A Loghmanee
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Curr Opin Pulm Med 13:497-504. 2007..This review evaluates and discusses original, recent research in this area... - Idiopathic congenital central hypoventilation syndrome: the next generationJean M Silvestri
Department of Pediatrics, Rush University, Rush Children's Hospital at Rush-Presbyterian-St. Luke's Medical Center, Chicago, Illinois 60612, USA
Am J Med Genet 112:46-50. 2002.... - Sudden infant death syndrome: the genetic segue?Debra E Weese-Mayer
Northwestern University Feinberg School of Medicine, Chicago, IL 60614, USA
Acta Paediatr 97:846-7. 2008 - Home monitoring during infancy: what is normal?Jean M Silvestri
Rush Children s Hospital at Rush Presbyterian St Luke s Medical Center, 1653 West Congress Parkway, 456 Pavilion Building, Chicago, IL 60612, USA
Paediatr Respir Rev 3:10-7. 2002..Studies have been carried out in both hospital and home settings using different protocols and these are reviewed and assessed as a means of providing baseline data for home memory monitoring of infants... - Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndromeAndre Diedrich
Dept of Medicine, Division of Clinical Pharmacology, Autonomic Dysfunction Center, Vanderbilt University School of Medicine, Nashville, TN, USA
Clin Auton Res 17:177-85. 2007.... - 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysisBrion S Maher
Am J Med Genet A 140:1453-7. 2006 - Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHSDebra E Weese-Mayer
Am J Respir Crit Care Med 171:88. 2005 - PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthoodNick A Antic
Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia, and Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA
Am J Respir Crit Care Med 174:923-7. 2006..Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood... - Nighttime child care: inadequate sudden infant death syndrome risk factor knowledge, practice, and policiesRachel Y Moon
Division of General and Community Pediatrics, Children s National Medical Center, Washington, DC 20010, USA
Pediatrics 111:795-9. 2003..Recognizing that 20% of sudden infant death syndrome (SIDS) occurs in child care settings and that child care providers may place infants prone, it is important to determine sleep position practices in nighttime child care centers... - Pediatric autonomic disordersFelicia B Axelrod
Dysautonomia Treatment and Evaluation Center, Department of Pediatrics and Neurology, New York University School of Medicine, 530 First Ave, Suite 9Q, New York, New York 10016, USA
Pediatrics 118:309-21. 2006..To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood...