Elizabeth Berry-Kravis

Summary

Affiliation: Rush University Medical Center
Country: USA

Publications

  1. doi request reprint Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois Department of Biochemistry, Rush University Medical Center, Chicago, Illinois Electronic address
    Pediatr Neurol 50:297-302. 2014
  2. pmc Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)
    Andrew Knox
    Department of Pediatrics, Rush University Medical Center, 1725 West Harrison, Suite 718, Chicago, IL 60612, USA
    J Neurodev Disord 4:2. 2012
  3. pmc A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
    E Berry-Kravis
    Departments of Pediatrics, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, IL 60612, USA
    J Med Genet 46:266-71. 2009
  4. doi request reprint Characterization of potential outcome measures for future clinical trials in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, 1725 W Harrison St, Suite 718, Chicago, IL, USA
    J Autism Dev Disord 38:1751-7. 2008
  5. doi request reprint Seizures in fragile X syndrome: characteristics and comorbid diagnoses
    Elizabeth Berry-Kravis
    Rush University Medical Center, Chicago, IL, USA
    Am J Intellect Dev Disabil 115:461-72. 2010
  6. ncbi request reprint Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Mov Disord 22:2018-30, quiz 2140. 2007
  7. pmc Targeted treatments for fragile X syndrome
    Elizabeth Berry-Kravis
    Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Section of Pediatric Neurology, RUMC, 1725 West Harrison, Suite 718, Chicago, IL, 60612, USA
    J Neurodev Disord 3:193-210. 2011
  8. ncbi request reprint Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, University of Illinois at Chicago, IL 60612, USA
    J Dev Behav Pediatr 29:293-302. 2008
  9. ncbi request reprint Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    J Child Adolesc Psychopharmacol 16:525-40. 2006
  10. ncbi request reprint Epilepsy in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
    Dev Med Child Neurol 44:724-8. 2002

Collaborators

Detail Information

Publications66

  1. doi request reprint Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois Department of Biochemistry, Rush University Medical Center, Chicago, Illinois Electronic address
    Pediatr Neurol 50:297-302. 2014
    ..This work has led to efforts to develop treatments for FXS with neuroactive molecules targeted to pathways dysregulated in the absence of fragile X mental retardation protein...
  2. pmc Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS)
    Andrew Knox
    Department of Pediatrics, Rush University Medical Center, 1725 West Harrison, Suite 718, Chicago, IL 60612, USA
    J Neurodev Disord 4:2. 2012
    ..abstract:..
  3. pmc A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
    E Berry-Kravis
    Departments of Pediatrics, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, IL 60612, USA
    J Med Genet 46:266-71. 2009
    ..A pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and females with fragile X syndrome (FXS)...
  4. doi request reprint Characterization of potential outcome measures for future clinical trials in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, 1725 W Harrison St, Suite 718, Chicago, IL, USA
    J Autism Dev Disord 38:1751-7. 2008
    ....
  5. doi request reprint Seizures in fragile X syndrome: characteristics and comorbid diagnoses
    Elizabeth Berry-Kravis
    Rush University Medical Center, Chicago, IL, USA
    Am J Intellect Dev Disabil 115:461-72. 2010
    ..Although seizures in fragile X syndrome are typically not severe and easily treated with medications, they appear to be associated with developmental–behavioral comorbidity that impacts function...
  6. ncbi request reprint Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    Mov Disord 22:2018-30, quiz 2140. 2007
    ..We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made...
  7. pmc Targeted treatments for fragile X syndrome
    Elizabeth Berry-Kravis
    Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Section of Pediatric Neurology, RUMC, 1725 West Harrison, Suite 718, Chicago, IL, 60612, USA
    J Neurodev Disord 3:193-210. 2011
    ..Therefore, targeted treatments developed for FXS may also target subgroups of ASD, and clinical trials in FXS may serve as a model for the development of clinical trial strategies for ASD and other cognitive disorders...
  8. ncbi request reprint Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, University of Illinois at Chicago, IL 60612, USA
    J Dev Behav Pediatr 29:293-302. 2008
    ..Lithium reduces mGluR-activated translation and reverses phenotypes in the dfxr mutant fly and fmr1 knockout mouse. This pilot add-on trial was conducted to evaluate safety and efficacy of lithium in humans with FXS...
  9. ncbi request reprint Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
    J Child Adolesc Psychopharmacol 16:525-40. 2006
    ....
  10. ncbi request reprint Epilepsy in fragile X syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
    Dev Med Child Neurol 44:724-8. 2002
    ..Deficiency of FMRP (fragile X mental retardation protein) appears to lead to increased neuronal excitability and susceptibility to epilepsy, but particularly seems to facilitate mechanisms leading to the BFEC pattern...
  11. ncbi request reprint Carnitine levels and the ketogenic diet
    E Berry-Kravis
    Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, Illinois 60612, USA
    Epilepsia 42:1445-51. 2001
    ..To determine the long-term effect of the ketogenic diet (KD) on carnitine levels and whether carnitine depletion is a significant cause of clinical complications during KD initiation or treatment...
  12. ncbi request reprint Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, 1275 West Harrison Street, Suite 718, Chicago, IL 60612, USA
    Ann Neurol 57:144-7. 2005
    ....
  13. ncbi request reprint Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype
    Elizabeth M Berry-Kravis
    Department of Neurology, Rush University Medical Center, Chicago, IL, USA
    Am J Respir Crit Care Med 174:1139-44. 2006
    ....
  14. ncbi request reprint Tremor and ataxia in fragile X premutation carriers: blinded videotape study
    Elizabeth Berry-Kravis
    Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
    Ann Neurol 53:616-23. 2003
    ..Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late-onset "idiopathic" progressive tremor...
  15. ncbi request reprint The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period
    Robert S Wilson
    Rush Alzheimer s Disease Center and Rush Institute for Healthy Aging, 1645 W Jackson Blvd, Suite 675, Chicago, IL 60612, USA
    Arch Neurol 59:1154-60. 2002
    ..The apolipoprotein E (APOE) epsilon 4 allele is known to influence risk of AD but it has been difficult to establish whether it affects episodic memory differently from other cognitive functions...
  16. pmc Outcome measures for clinical trials in fragile X syndrome
    Elizabeth Berry-Kravis
    Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL Department of Psychiatry and Behavioral Sciences, University of California, Davis School of Medicine, Sacramento, CA MIND Institute, University of California, Davis Medical Center, Sacramento, CA Center for Interdisciplinary Brain Sciences Research and Departments of Psychiatry and Behavioral Sciences, Radiology and Pediatrics, Stanford University School of Medicine, Stanford, CA National Institute of Mental Health, National Institutes of Health, Bethesda, MD Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
    J Dev Behav Pediatr 34:508-22. 2013
    ..To address this problem, the National Institutes of Health convened a meeting of leading scientists and clinicians with the goal of identifying and standardizing outcome measures for use as potential endpoints in clinical trials in FXS...
  17. ncbi request reprint Progression of tremor and ataxia in male carriers of the FMR1 premutation
    Maureen A Leehey
    Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
    Mov Disord 22:203-6. 2007
    ..Preliminary data on life expectancy are variable, with a range from 5 to 25 years...
  18. doi request reprint FMR1 gray-zone alleles: association with Parkinson's disease in women?
    Deborah A Hall
    Department of Neurological Sciences, Rush University, 1725 West Harrison St, Suite 755, Chicago, IL 60611, USA
    Mov Disord 26:1900-6. 2011
    ..Our results, however, suggest that fragile X mental retardation 1 gray-zone alleles may be associated with Parkinson's disease in women...
  19. ncbi request reprint Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status
    Denis A Evans
    Rush Institute on Healthy Aging, Chicago, IL, USA
    Arch Neurol 60:185-9. 2003
    ..Few studies compare Alzheimer disease (AD) incidence among black and white subjects...
  20. ncbi request reprint Neuropathic features in fragile X premutation carriers
    Elizabeth Berry-Kravis
    Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA
    Am J Med Genet A 143:19-26. 2007
    ..These data suggest that neuropathic signs are associated with the fragile X premutation, presumably occurring through the same mechanism proposed for CNS disease, namely, toxicity from expanded-CGG-repeat FMR1 mRNA...
  21. ncbi request reprint Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome
    Deborah A Hall
    Department of Neurology, University of Colorado Health Sciences Center at Denver, Denver, Colorado 80262, USA
    Mov Disord 21:1741-4. 2006
    ..This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms...
  22. pmc New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN
    Penelope Hogarth
    Department of Neurology, Oregon Health and Science University, Portland, USA
    Neurology 80:268-75. 2013
    ..To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype...
  23. ncbi request reprint Fragile X syndrome and targeted treatment trials
    Randi Hagerman
    Department of Pediatrics, University of California, Sacramento, CA, USA
    Results Probl Cell Differ 54:297-335. 2012
    ....
  24. pmc The apolipoprotein E epsilon 2 allele and decline in episodic memory
    R S Wilson
    Rush Alzheimer s Disease Center and Rush Institute for Healthy Aging, Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, USA
    J Neurol Neurosurg Psychiatry 73:672-7. 2002
    ....
  25. pmc Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people
    D A Bennett
    Rush Alzheimer s Disease Center, Armour Academic Center, 600 South Paulina, Suite 1028 Chicago, IL 60612, USA
    J Neurol Neurosurg Psychiatry 76:1194-9. 2005
    ..The neurobiological changes underlying the association of the apolipoprotein E (APOE) e4 allele with level of cognition are poorly understood...
  26. ncbi request reprint Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study
    C G Goetz
    Department of Neurological Sciences, Rush University Rush Presbyterian St Luke s Medical Center, 1725 W Harrison St, Chicago, IL 60612, USA
    Arch Neurol 58:209-13. 2001
    ..Another study linked the apolipoprotein E4 (APOE4) allele to hallucinations in PD...
  27. ncbi request reprint Bruising and the ketogenic diet: evidence for diet-induced changes in platelet function
    E Berry-Kravis
    Department of Pediatrics, Rush Presbyterian St Luke s Medical Center, Chicago, IL 60612, USA
    Ann Neurol 49:98-103. 2001
    ..Patients on the diet undergoing anticoagulation or surgery should be evaluated carefully for symptoms of bleeding tendency...
  28. ncbi request reprint Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease
    D A Bennett
    Rush Alzheimer s Disease Center, Chicago, Illinois 60612, USA
    Neurology 60:246-52. 2003
    ..To test the hypothesis that the APOE epsilon4 allele is associated with the clinical manifestations of AD through an association with the pathologic hallmarks of disease...
  29. ncbi request reprint Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases
    W T Hsu
    Department of Pediatrics, Rush Medical College, Chicago, Illinois, USA
    Am J Med Genet 80:473-80. 1998
    ..As 80% of these patients were ascertained because of the presence of abnormal levels of MSAFP or MShCG, the increased use of maternal serum screening should bring more such cases to clinical attention...
  30. ncbi request reprint The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons
    J A Schneider
    Rush AD Center and Rush Institute for Healthy Aging, Rush University Medical Center, Chicago, Ill, USA
    Stroke 36:954-9. 2005
    ..Little data are available regarding the relation of apoE epsilon4 to cerebral infarctions documented on postmortem examination...
  31. pmc Development of an expressive language sampling procedure in fragile X syndrome: a pilot study
    Elizabeth Berry-Kravis
    Department of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA
    J Dev Behav Pediatr 34:245-51. 2013
    ..This small-scale study sought to determine the feasibility, reproducibility, and clinical validity of highly structured expressive language sampling as an outcome measure reflecting language ability...
  32. pmc Autonomic regulation in fragile X syndrome
    Keri J Heilman
    Department of Psychiatry, Brain Body Center MC 912, University of Illinois at Chicago, USA
    Dev Psychobiol 53:785-95. 2011
    ..The observed indices of atypical autonomic regulation, consistent with the Polyvagal Theory, may contribute to the deficits in social behavior and social communication observed in FXS...
  33. ncbi request reprint The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment
    Neelum T Aggarwal
    Rush Alzheimer s Disease Center, Rush University Medical Center, Chicago, Illinois 60612 3872, USA
    Neurocase 11:3-7. 2005
    ..02, 2.63). There was a marginally significant reduction in the effect of epsilon4 in older compared to younger participants (p=.053). The results suggest that possession of an epsilon4 allele does increase risk of AD in persons with MCI...
  34. doi request reprint Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey
    Donald B Bailey
    RTI International, Research Triangle Park, 3040 Cornwallis Road, Research Triangle Park, NC 27709, USA
    J Dev Behav Pediatr 33:62-9. 2012
    ..To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill...
  35. ncbi request reprint Fragile X: leading the way for targeted treatments in autism
    Lulu W Wang
    Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California 95817, USA
    Neurotherapeutics 7:264-74. 2010
    ..In those with large premutations (150-200), lowered levels of FMRP also occur...
  36. ncbi request reprint Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system
    Jennifer G Goldman
    Department of Neurological Sciences, Rush Presbyterian St Luke s Medical Center, Chicago, Ill 60612, USA
    Arch Neurol 61:1280-4. 2004
    ..Because CCK gene polymorphisms vary across ethnic groups, the presence of similar associations in white PD subjects merits investigation...
  37. pmc Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome
    Elizabeth Berry-Kravis
    Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA
    Int J Pediatr 2012:843016. 2012
    ..Side effect-related failures were highest for antipsychotics. Systematic psychopharmacologic intervention targeted to behavioral symptoms appears helpful in the majority of patients with FXS...
  38. ncbi request reprint Psychopharmacology in fragile X syndrome--present and future
    Elizabeth Berry-Kravis
    Department of Pediatrics, Neurology, and Biochemistry, Rush University Medical Center, Chicago, Illinois 60612, USA
    Ment Retard Dev Disabil Res Rev 10:42-8. 2004
    ..This article summarizes knowledge about effectiveness and approaches to management of currently available psychopharmacology for behavior in FXS and discusses early leads to future treatments for cognition...
  39. ncbi request reprint Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy
    Sarah J Peterson
    Department of Clinical Nutrition, Rush University Medical Center 425, 1700 West Van Buren, Chicago, IL 60612, USA
    J Am Diet Assoc 105:718-25. 2005
    ..To assess growth and seizure reduction in epileptic children using the ketogenic diet as a treatment for intractable epilepsy...
  40. doi request reprint Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome
    Joan A O'Keefe
    Department of Anatomy and Cell Biology, Rush University Medical Center, Chicago, IL 60612, United States
    Gait Posture 39:827-30. 2014
    ..462 ≤ r ≤ 0.568 (p ≤ 0.040). These results suggest feasibility and validity of a markerless system as a non-invasive method able to quantify motion in individuals with hyperkinesis...
  41. pmc MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
    Alex R Paciorkowski
    Department of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA
    Neurogenetics 14:99-111. 2013
    ..Given interactions with several key neurodevelopmental genes such as ARX, FMR1, MECP2, and TBR1, it appears that MEF2C plays a role in several developmental stages of both dorsal and ventral neuronal cell types...
  42. ncbi request reprint Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
    V L Sheen
    Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA
    Neurology 64:254-62. 2005
    ..To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS)...
  43. ncbi request reprint X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
    W B Dobyns
    Departments of Human Genetics, Neurology, and Pediatrics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet 86:331-7. 1999
    ..Therefore, we propose that this disorder comprises a new X-linked malformation syndrome, which we refer to as X-linked lissencephaly with ambiguous genitalia (XLA-G)...
  44. pmc FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
    M A Leehey
    Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA
    Neurology 70:1397-402. 2008
    ..This study determines whether CGG repeat length correlates with severity and type of motor dysfunction in premutation carriers...
  45. ncbi request reprint Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis
    Debra 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
    ....
  46. ncbi request reprint Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene
    Debra 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
    ....
  47. ncbi request reprint Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
    James A Brunberg
    Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
    AJNR Am J Neuroradiol 23:1757-66. 2002
    ..Our purpose was to characterize the findings of MR imaging of the brain of adult male fragile X premutation carriers with a recently identified disorder characterized by ataxia, tremor, rigidity, and cognitive dysfunction...
  48. ncbi request reprint PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood
    Nick 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...
  49. ncbi request reprint Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome
    Casey 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...
  50. ncbi request reprint Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
    Debra 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
    ....
  51. ncbi request reprint Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology
    Emily 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...
  52. ncbi request reprint 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis
    Brion S Maher
    Am J Med Genet A 140:1453-7. 2006
  53. ncbi request reprint Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene
    Casey 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
  54. ncbi request reprint Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome
    Emily S Todd
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
    Pediatrics 118:e408-14. 2006
    ....
  55. ncbi request reprint In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome
    Debra 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
    ....
  56. ncbi request reprint Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS
    Debra E Weese-Mayer
    Am J Respir Crit Care Med 171:88. 2005
  57. ncbi request reprint Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development
    Debra 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...
  58. ncbi request reprint Sudden Infant Death Syndrome: review of implicated genetic factors
    Debra E Weese-Mayer
    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA
    Am J Med Genet A 143:771-88. 2007
    ....
  59. ncbi request reprint CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA
    Am J Med Genet B Neuropsychiatr Genet 144:566-9. 2007
    ..001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS...
  60. ncbi request reprint Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome
    Andre 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
    ....
  61. ncbi request reprint Sudden infant death syndrome: rare mutation in the serotonin system FEV gene
    Casey M Rand
    Department of Pediatrics, Rush Children s Hospital at Rush University Medical Center, Chicago, Illinois 60612, USA
    Pediatr Res 62:180-2. 2007
    ....
  62. ncbi request reprint Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood
    Diego 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...
  63. ncbi request reprint Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease
    Debra 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
  64. ncbi request reprint Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death
    Jerome 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)...
  65. pmc Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease
    Jodi L McBride
    Department of Neurological Sciences, Rush University Medical Center, 1735 West Harrison Street, Suite 300, Chicago, IL 60612, USA
    Proc Natl Acad Sci U S A 103:9345-50. 2006
    ..These data further support the concept that viral vector delivery of GDNF may be a viable treatment for patients suffering from HD...
  66. doi request reprint Genetic variation in the HTR1A gene and sudden infant death syndrome
    Megan 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