E H Cook

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. ncbi request reprint Genetics of autism
    E H Cook
    Departments of Psychiatry and Pediatrics, Committees of Genetics and Clinical Pharmacology, University of Chicago, Chicago, Illinois, USA
    Child Adolesc Psychiatr Clin N Am 10:333-50. 2001
  2. pmc Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
    E H Cook
    Department of Psychiatry, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 62:1077-83. 1998
  3. ncbi request reprint Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels
    K Y Little
    Department of Psychiatry, University of Michigan, Ann Arbor, USA
    Am J Psychiatry 155:207-13. 1998
  4. ncbi request reprint Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder
    S J Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Psychiatry 7:278-88. 2002
  5. ncbi request reprint Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder
    J Veenstra-VanderWeele
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, MC3077, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Mol Psychiatry 6:160-7. 2001
  6. ncbi request reprint Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism
    S J Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, IL 60637, USA
    Mol Psychiatry 7:503-7. 2002
  7. ncbi request reprint Autism and the serotonin transporter: the long and short of it
    B Devlin
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA
    Mol Psychiatry 10:1110-6. 2005
  8. ncbi request reprint Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder
    J P Lassig
    Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, Chicago, Illinois, USA
    Am J Med Genet 88:472-5. 1999
  9. ncbi request reprint Sertraline in children and adolescents with obsessive-compulsive disorder: a multicenter randomized controlled trial
    J S March
    Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
    JAMA 280:1752-6. 1998
  10. ncbi request reprint Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder
    E H Cook
    Department of Psychiatry, University of Chicago, IL 60637
    Life Sci 52:2005-15. 1993

Detail Information

Publications84

  1. ncbi request reprint Genetics of autism
    E H Cook
    Departments of Psychiatry and Pediatrics, Committees of Genetics and Clinical Pharmacology, University of Chicago, Chicago, Illinois, USA
    Child Adolesc Psychiatr Clin N Am 10:333-50. 2001
    ..More genes increase the chance that one or more will have implications for treatment development sooner...
  2. pmc Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
    E H Cook
    Department of Psychiatry, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 62:1077-83. 1998
    ..The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder...
  3. ncbi request reprint Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels
    K Y Little
    Department of Psychiatry, University of Michigan, Ann Arbor, USA
    Am J Psychiatry 155:207-13. 1998
    ..The present investigation tested the hypothesis that brain serotonin transporter function is altered in chronic users of ethanol and cocaine, which might be related to a common serotonin transporter promoter polymorphism...
  4. ncbi request reprint Transmission disequilibrium mapping at the serotonin transporter gene (SLC6A4) region in autistic disorder
    S J Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Psychiatry 7:278-88. 2002
    ..Four markers showed stronger evidence of transmission disequilibrium (TDT(max) P = 0.0005) than 5-HTTLPR...
  5. ncbi request reprint Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder
    J Veenstra-VanderWeele
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, MC3077, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Mol Psychiatry 6:160-7. 2001
    ..No evidence was found for a functional mutation, but several SNPs were identified. Capillary electrophoresis SSCP typing of a haplotype consisting of two common SNPs within EAAC1 revealed no significant linkage disequilibrium...
  6. ncbi request reprint Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism
    S J Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, IL 60637, USA
    Mol Psychiatry 7:503-7. 2002
    ..We also screened approximately 2 kb of the 5' flanking region and the coding region and identified 10 single nucleotide polymorphisms...
  7. ncbi request reprint Autism and the serotonin transporter: the long and short of it
    B Devlin
    Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA
    Mol Psychiatry 10:1110-6. 2005
    ..Determining the factors influencing the relationship between autism phenotypes and HTTLPR variation, as well as other loci in SLC6A4, could be an important advance in our understanding of this complex disorder...
  8. ncbi request reprint Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage disequilibrium between HTR7 and autistic disorder
    J P Lassig
    Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, Chicago, Illinois, USA
    Am J Med Genet 88:472-5. 1999
    ..252, p = 0.602). Sequence data obtained from both intron 1 and intron 2 of HTR7, and from the 5-HT(7) pseudogene (HTR7P), was used to confirm localization of HTR7 to 10q23 and HTR7P to 12p13 using radiation hybrid analyses...
  9. ncbi request reprint Sertraline in children and adolescents with obsessive-compulsive disorder: a multicenter randomized controlled trial
    J S March
    Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
    JAMA 280:1752-6. 1998
    ..The serotonin reuptake inhibitors are the treatment of choice for patients with obsessive-compulsive disorder; however, empirical support for this assertion has been weaker for children and adolescents than for adults...
  10. ncbi request reprint Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder
    E H Cook
    Department of Psychiatry, University of Chicago, IL 60637
    Life Sci 52:2005-15. 1993
    ..Hyperserotonemia of autism may be heterogeneous with one subgroup of subjects with increased 5-HT uptake and another subgroup with decreased 5-HT2 binding...
  11. ncbi request reprint Brain dopamine transporter messenger RNA and binding sites in cocaine users: a postmortem study
    K Y Little
    Department of Psychiatry, University of Michigan, and Ann Arbor Veterans Affairs Medical Center, 48105, USA
    Arch Gen Psychiatry 55:793-9. 1998
    ..The present experiment tested the hypothesis in cocaine-using humans that synthesis of midbrain DAT messenger RNA increases parallel with increased striatal DAT binding sites...
  12. ncbi request reprint Quantifying the phenotype in autism spectrum disorders
    C Lord
    The University of Chicago, Illinois, USA
    Am J Med Genet 105:36-8. 2001
    ....
  13. pmc The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
    L B Herzing
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 68:1501-5. 2001
    ..The location and imprinted expression of ATP10C thus make it a candidate for chromosome 15-associated autism and suggest that it may contribute to the Angelman syndrome phenotype...
  14. ncbi request reprint Mutation screening of human 5-HT(2B)receptor gene in early-onset obsessive-compulsive disorder
    S J Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Mol Cell Probes 14:47-52. 2000
    ..It does not appear likely to affect splicing. No evidence for functional mutation was found in the sequenced regions of HTR2B...
  15. pmc Interaction of prenatal exposure to cigarettes and MAOA genotype in pathways to youth antisocial behavior
    L S Wakschlag
    Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, USA
    Mol Psychiatry 15:928-37. 2010
    ..Future research to replicate and extend these findings should focus on elucidating how gene x exposure interactions may shape behavior through associated changes in brain function...
  16. pmc Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis
    L K Davis
    Department of Psychiatry, University of Illinois, Chicago, Illinois 60637, USA
    Am J Med Genet A 158:1654-61. 2012
    ..This study provides further support for the possible role of rare copy number variants in A2BP1 in the development of autism and associated motor asymmetries...
  17. ncbi request reprint Molecular genetics of autism spectrum disorder
    J Veenstra-VanderWeele
    Department of Psychiatry, University of Chicago, Chicago, IL 60637, USA
    Mol Psychiatry 9:819-32. 2004
    ..We highlight other converging findings, point toward those areas most likely to yield results, and emphasize the contributions of multiple approaches to identifying the genes of interest...
  18. ncbi request reprint Multisite, double-blind, placebo-controlled trial of porcine secretin in autism
    T Owley
    Department of Psychiatry, University of Chicago, IL 60637, USA
    J Am Acad Child Adolesc Psychiatry 40:1293-9. 2001
    ..To examine the efficacy of intravenous porcine secretin for the treatment of autistic disorder...
  19. ncbi request reprint Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder
    B H King
    Department of Psychiatry, Dartmouth Medical School, Hanover, NH 03756 0001, USA
    J Am Acad Child Adolesc Psychiatry 40:658-65. 2001
    ..To test the hypothesis that amantadine hydrochloride is a safe and effective treatment for behavioral disturbances--for example, hyperactivity and irritability--in children with autism...
  20. ncbi request reprint Primary structure of the human platelet serotonin 5-HT2A receptor: identify with frontal cortex serotonin 5-HT2A receptor
    E H Cook
    Department of Psychiatry, University of Chicago, Illinois 60637
    J Neurochem 63:465-9. 1994
    ..This finding may have implications in the study of neuropsychiatric disorders for which altered platelet 5-HT2A receptor binding has been demonstrated...
  21. pmc Association of attention-deficit disorder and the dopamine transporter gene
    E H Cook
    Department of Psychiatry, University of Chicago, IL, USA
    Am J Hum Genet 56:993-8. 1995
    ..Biochemical analysis of such mutations may lead to development of more effective therapeutic interventions...
  22. ncbi request reprint Long-term sertraline treatment of children and adolescents with obsessive-compulsive disorder
    E H Cook
    Department of Psychiatry and Pediatrics, University of Chicago, IL 60637, USA
    J Am Acad Child Adolesc Psychiatry 40:1175-81. 2001
    ..CONCLUSION: Sertraline (50-200 mg/day) was effective and generally well tolerated in the treatment of childhood and adolescent OCD for up to 52 weeks. Improvement was seen with continued treatment...
  23. ncbi request reprint Association studies of serotonin system candidate genes in early-onset obsessive-compulsive disorder
    Diane E Dickel
    Institute of Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA
    Biol Psychiatry 61:322-9. 2007
    ..Early-onset OCD is a more familial form of the disorder...
  24. ncbi request reprint Association of dopamine transporter genotype with disruptive behavior disorders in an eight-year longitudinal study of children and adolescents
    Steve S Lee
    Department of Psychology, University of California, Los Angeles, California 90095 1563, USA
    Am J Med Genet B Neuropsychiatr Genet 144:310-7. 2007
    ..The inconsistent association between DAT1 and child behavior problems in this and other samples may reflect joint influence of the 10-repeat and 9-repeat alleles...
  25. ncbi request reprint 5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism
    Camille W Brune
    Institute for Juvenile Research, Department of Psychiatry M C 747, University of Illinois at Chicago, 1747 West Roosevelt Rd, Rm 155, Chicago, IL 60608, USA
    Am J Psychiatry 163:2148-56. 2006
    ..The heterogeneity in these reports may be due to clinical heterogeneity. The authors hypothesized that 5-HTTLPR genotypes would be related to variation in specific symptoms in children with autism...
  26. ncbi request reprint Serotonin transporter genotype and acute subjective response to amphetamine
    David C Lott
    Linden Oaks Hospital at Edward, Naperville, Illinois, USA
    Am J Addict 15:327-35. 2006
    ..The separate and combined analyses of the gene-linked polymorphic region (5-HTTLPR) and the Intron 2 VNTR suggest that these two HTT polymorphisms may contribute to acute subjective responses to d-amphetamine with a small effect...
  27. ncbi request reprint Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder
    Diane E Dickel
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    Arch Gen Psychiatry 63:778-85. 2006
    ....
  28. pmc A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
    Dan E Arking
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 82:160-4. 2008
    ..Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism...
  29. ncbi request reprint ITGB3 shows genetic and expression interaction with SLC6A4
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Genet 120:93-100. 2006
    ..012) and SLC6A4 (P=0.008) in unrelated CEPH individuals. We also show preliminary evidence that genotypes at the ITGB3 and SLC6A4 loci may interact to affect autism susceptibility (P=0.033)...
  30. ncbi request reprint Association between the casein kinase 1 epsilon gene region and subjective response to D-amphetamine
    Jeremy Veenstra-Vanderweele
    Institute of Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60637, USA
    Neuropsychopharmacology 31:1056-63. 2006
    ..001), which corresponded to a leftward shift in the dose-response curve. These findings demonstrate the successful translation of pharmacogenetic results from mice to humans...
  31. ncbi request reprint Family-based association study of DAT1 and DRD4 polymorphism in Korean children with ADHD
    Young Shin Kim
    Child Study Center, Yale University School of Medicine, New Haven, CT, USA
    Neurosci Lett 390:176-81. 2005
    ..Future studies are necessary to test the hypothesis generated in this study that the 5-repeat allele of DRD4 is protective for hyperactive-impulsivity symptom severity compared to the 4-repeat allele...
  32. ncbi request reprint Interindividual variation in anxiety response to amphetamine: possible role for adenosine A2A receptor gene variants
    Christa Hohoff
    Department of Psychiatry, University of Muenster, Muenster, Germany
    Am J Med Genet B Neuropsychiatr Genet 139:42-4. 2005
    ..This is consistent with recent observations indicating a role for adenosine A(2A) receptor gene polymorphisms in anxiety...
  33. pmc Ancestry and pharmacogenetics of antileukemic drug toxicity
    Shinji Kishi
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, TN 38105 2794, USA
    Blood 109:4151-7. 2007
    ..026). The genotype-phenotype associations were similar whether analyses were adjusted by self-reported race or ancestry-informative genetic markers. Germ-line polymorphisms are significant determinants of toxicity of antileukemic therapy...
  34. ncbi request reprint Using the autism diagnostic interview--revised to increase phenotypic homogeneity in genetic studies of autism
    Vanessa Hus
    University of Michigan Autism and Communication Disorders Center, Ann Arbor, Michigan, USA
    Biol Psychiatry 61:438-48. 2007
    ..Group differences in age, gender, IQ, and measures of autism severity are examined as related to Autism Diagnostic Interview-Revised (ADI-R) domains previously used for subsetting or Quantitative Trait Analysis (QTL)...
  35. doi request reprint Copy-number variations associated with neuropsychiatric conditions
    Edwin H Cook
    Institute for Juvenile Research, Department of Psychiatry, University of Illinois, 1747 West Roosevelt Road, Chicago, Illinois 60608, USA
    Nature 455:919-23. 2008
    ..The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context...
  36. pmc Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    Susan L Christian
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Biol Psychiatry 63:1111-7. 2008
    ..e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease...
  37. doi request reprint Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism
    Soo Jeong Kim
    Department of Psychiatry, College of Medicine, University of Florida, Gainesville, Florida, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1116-25. 2008
    ..Further investigation of the 15q11-q13 region with denser genotyping in a larger sample set may be necessary to determine whether this region confers risk to autism, indicated by association, or to specific autism phenotypes...
  38. ncbi request reprint Recurrent 16p11.2 microdeletions in autism
    Ravinesh A Kumar
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 17:628-38. 2008
    ..Our work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date...
  39. ncbi request reprint Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines
    Wanqing Liu
    Department of Medicine, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Clin Cancer Res 13:6788-95. 2007
    ..We aimed to determine if there are interactions between EGFR expression, mutations, polymorphisms, and gene amplification, and whether these factors are associated with variability in response to EGFR inhibitors...
  40. ncbi request reprint Heterogeneous association between engrailed-2 and autism in the CPEA network
    Camille W Brune
    Department of Psychiatry, Institute for Juvenile Research, University of Illinois Chicago, Chicago, Illinois, USA
    Am J Med Genet B Neuropsychiatr Genet 147:187-93. 2008
    ..Future studies investigating EN2 should consider how the association of variants in this gene with autism could be influenced by differences in phenotype and possible interactions with genotypes at other autism candidate genes...
  41. pmc Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder
    Gregory L Hanna
    Department of Psychiatry, University of Michigan, Ann Arbor, Michigan 48105, USA
    Biol Psychiatry 62:856-62. 2007
    ..The goal of this study was to identify chromosomal regions likely to contain susceptibility loci for obsessive-compulsive disorder (OCD)...
  42. pmc Molecular genetics of the platelet serotonin system in first-degree relatives of patients with autism
    Sarah Cross
    Pritzker School of Medicine, University of Chicago, Chicago, IL, USA
    Neuropsychopharmacology 33:353-60. 2008
    ..046). These initial studies of indices of the 5-HT system with several single-nucleotide polymorphisms at loci in this system generate hypotheses for testing in other samples...
  43. pmc Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism
    Suma Jacob
    Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, 1747 West Roosevelt Road, Chicago, IL 60608, USA
    Neurosci Lett 417:6-9. 2007
    ..Overtransmission of different alleles in different populations may be due to a different pattern of linkage disequilibrium between the marker rs2254298 and an as yet undetermined susceptibility variant in OXTR...
  44. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  45. ncbi request reprint Norepinephrine transporter gene variation modulates acute response to D-amphetamine
    Andrea Dlugos
    Department of Psychiatry, University of Munster, Munster, Germany
    Biol Psychiatry 61:1296-305. 2007
    ..Because the effects of amphetamine are mediated in part by the norepinephrine transporter (SLC6A2), we examined interindividual differences in mood response to amphetamine in relation to SLC6A2 gene polymorphisms...
  46. ncbi request reprint Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL, USA
    Eur J Hum Genet 14:923-31. 2006
    ..010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P = 0.00082), and that this variation has different effects in males and females (P = 0.0018)...
  47. ncbi request reprint Mutation screening and transmission disequilibrium study of ATP10C in autism
    Soo Jeong Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet 114:137-43. 2002
    ....
  48. ncbi request reprint Linkage disequilibrium of the brain-derived neurotrophic factor Val66Met polymorphism in children with a prepubertal and early adolescent bipolar disorder phenotype
    Barbara Geller
    Department of Psychiatry, Washington University School of Medicine, 660 S Euclid Ave, St Louis, MO 63110, USA
    Am J Psychiatry 161:1698-700. 2004
    ..Transmission of the brain-derived neurotrophic factor (BDNF) Val66 allele in children with a prepubertal and early adolescent bipolar disorder phenotype was examined...
  49. ncbi request reprint MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism
    Akane Shibayama
    Department of Molecular Genetics and Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 128:50-3. 2004
    ..009). These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study...
  50. ncbi request reprint Heritability and linkage analysis of sensitivity to cisplatin-induced cytotoxicity
    M Eileen Dolan
    Department of Medicine, and Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Illinois 60637, USA
    Cancer Res 64:4353-6. 2004
    ..These data show the power of using large pedigrees that have been extensively genotyped for evaluating the genetic contribution to sensitivity to cell growth inhibition by anticancer agents...
  51. ncbi request reprint Mutation scanning of the androgen receptor gene in patients with psychiatric disorders reveals highly conserved variants in alcoholic and phobia patients
    Jin Yan
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Psychiatr Genet 14:57-60. 2004
    ..R726L and P516S occur at highly conserved amino acids. Further study is required to assess whether these VAPSEs contribute to the risk of alcoholism or phobia or other diseases...
  52. ncbi request reprint Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism
    Wanqing Liu
    Department of Medicine, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Clin Cancer Res 9:1009-12. 2003
    ..Therefore, the evaluation of the allelic distribution of this polymorphism in populations of various ethnic origins will be crucial to understand the interindividual variability in EGFR expression...
  53. ncbi request reprint No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network
    Bernie Devlin
    Department of Psychiatry, University of Pittsburgh, School of Medicine, Pittsburgh, Pennsylvania, USA
    Am J Med Genet 114:667-72. 2002
    ..Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism...
  54. ncbi request reprint Case series: Adderall augmentation of serotonin reuptake inhibitors in childhood-onset obsessive compulsive disorder
    Thomas Owley
    Section of Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, Illinois 60637, USA
    J Child Adolesc Psychopharmacol 12:165-71. 2002
    ..In this case series, we describe four patients with childhood-onset obsessive compulsive disorder, and with partial or no response to SSRI treatment, who subsequently had a reduction of their symptoms with Adderall augmentation...
  55. ncbi request reprint Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands
    Gregory L Hanna
    Department of Psychiatry, University of Michigan, Ann Arbor, Michigan 48109 0390, USA
    Am J Med Genet 114:541-52. 2002
    ..73 on 19q. The maximum multipoint LOD score with a recessive model was 1.40 on 6p. The results provide suggestive evidence for linkage on 9p and identify regions requiring further study with much larger samples...
  56. ncbi request reprint Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism
    Jeremy Veenstra-Vanderweele
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet 114:277-83. 2002
    ..No evidence was found for unequal transmission of haplotypes; however, power analysis reveals low power to detect a parent-of-origin effect in this sample size...
  57. ncbi request reprint Serotonin transporter promoter polymorphism, peripheral indexes of serotonin function, and personality measures in families with alcoholism
    Scott F Stoltenberg
    University of Michigan Addiction Research Center and Department of Psychiatry, University of Michigan, Ann Arbor, Michigan 48108, USA
    Am J Med Genet 114:230-4. 2002
    ..The results of this pilot study suggest that further work should examine the mediation of the genetic effects on personality traits by biochemical measures and their moderation by gender...
  58. ncbi request reprint Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene
    Michael H Wu
    Department of Medicine, University of Chicago, Chicago, Illinois, USA
    Pharmacogenetics 14:595-605. 2004
    ..03). The 5'-UTR-363 SNP is located in one of the three promoters of CES2. However, we did not observe significant differences in CES2 activities (irinotecan and procaine hydrolysis) among individuals with different haplotypes...
  59. ncbi request reprint Autism as a paradigmatic complex genetic disorder
    Jeremy Veenstra-Vanderweele
    Departments of Psychiatry, The University of Chicago, Illinois 60637, USA
    Annu Rev Genomics Hum Genet 5:379-405. 2004
    ..However, it is essential that the restricted interests of patients with autism not be reflected in overly restrictive genetic approaches if we are to better understand the genetics of autism in the most expeditious and thorough manner...
  60. ncbi request reprint An open-label trial of escitalopram in pervasive developmental disorders
    Thomas Owley
    Department of Psychiatry, University of Chicago MC 3077, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    J Am Acad Child Adolesc Psychiatry 44:343-8. 2005
    ..To assess the effect of escitalopram in the treatment of pervasive developmental disorders (PDDs)...
  61. ncbi request reprint Dopamine transporter gene associated with diminished subjective response to amphetamine
    David C Lott
    Department of Psychiatry, The University of Chicago, Chicago, IL 60637, USA
    Neuropsychopharmacology 30:602-9. 2005
    ..The current findings have important implications for understanding the genetic determinants of variability in stimulant response and risk of abuse...
  62. ncbi request reprint Dopamine transporter genotype and methylphenidate dose response in children with ADHD
    Mark A Stein
    Department of Psychiatry, The University of Chicago, Chicago, IL 60637, USA
    Neuropsychopharmacology 30:1374-82. 2005
    ..Further research is needed to determine the mechanisms related to poor response in patients with the 9/9-repeat genotype, and to determine if this group responds differentially to alternative treatments...
  63. ncbi request reprint Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
    Am J Med Genet B Neuropsychiatr Genet 133:50-3. 2005
    ..One uncommon missense variant was found in each of the RARbeta, RARgamma, and RXRgamma genes. We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia...
  64. pmc Pharmacogenetics of outcome in children with acute lymphoblastic leukemia
    Jose Claudio C Rocha
    Department of Pharmaceutical Sciences, Saint Jude Children s Research Hospital of the University of Tennessee, Memphis 38105 2794, USA
    Blood 105:4752-8. 2005
    ..04). The GSTM1 non-null and TYMS 3/3 genotypes are plausibly linked to drug resistance. Polymorphisms interact to influence antileukemic outcome and represent determinants of response that can be used to optimize therapy...
  65. ncbi request reprint High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    Jinong Feng
    Department of Molecular Genetics, City of Hope National Medical Center, Duarte, CA 91010 3000, USA
    Neurosci Lett 409:10-3. 2006
    ..In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility...
  66. ncbi request reprint Are the arginine vasopressin V1a receptor microsatellites related to hypersexuality in children with a prepubertal and early adolescent bipolar disorder phenotype?
    Barbara Geller
    Washington University School of Medicine, St Louis, MO 63110, USA
    Bipolar Disord 7:610-6. 2005
    ..Preferential transmission of the number of AVPR1A microsatellite repeats to hypersexual and uninhibited people-seeking probands was hypothesized, based on reports from preclinical work in the literature...
  67. ncbi request reprint A double-blind, placebo-controlled study of valproate for aggression in youth with pervasive developmental disorders
    Jessica A Hellings
    Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas 66160, USA
    J Child Adolesc Psychopharmacol 15:682-92. 2005
    ..The aim of this study was to study valproate efficacy and safety for aggression in children and adolescents with pervasive developmental disorders (PDD)...
  68. pmc Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group
    Stella M Davies
    Department of Pediatrics, Cincinnati Children s Hospital and Medical Center, OH 45230, USA
    Blood 111:2984-90. 2008
    ..009, logistic regression), when comparing "best" and "worst" risk groups. These data are consistent with growing evidence that both acquired and host genetics influence response to cancer therapy...
  69. pmc Interactions between integrin alphaIIbbeta3 and the serotonin transporter regulate serotonin transport and platelet aggregation in mice and humans
    Ana Marin D Carneiro
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 8548, USA
    J Clin Invest 118:1544-52. 2008
    ....
  70. ncbi request reprint Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications
    Laura B K Herzing
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 11:1707-18. 2002
    ....
  71. ncbi request reprint Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Hum Genet 117:81-7. 2005
    ..Our results suggest that variation in ITGB3 in addition to Leu33Pro could contribute to susceptibility to CVD and serotonin in a sex-specific manner...
  72. ncbi request reprint Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases
    Jin Yan
    Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Neurosci Lett 380:37-41. 2005
    ..In conclusion, we describe three novel structural variants of the Vitamin D receptor. Further study is required to clarify their role, if any, in psychiatric disease...
  73. ncbi request reprint Characterization of multiple promoters in the human carboxylesterase 2 gene
    Michael H Wu
    Section of Haematology Oncology, Department of Medicine, University of Chicago, Chicago, Illinois 60637 1470, USA
    Pharmacogenetics 13:425-35. 2003
    ..These findings shed some light on CES2 gene regulation, a gene important in the metabolism of many drugs...
  74. ncbi request reprint Between a ROC and a hard place: decision making and making decisions about using the SCQ
    Christina Corsello
    University of California, San Diego, USA
    J Child Psychol Psychiatry 48:932-40. 2007
    ....
  75. ncbi request reprint A prospective, open-label trial of memantine in the treatment of cognitive, behavioral, and memory dysfunction in pervasive developmental disorders
    Thomas Owley
    University of Illinois at Chicago, Department of Psychiatry, Institute for Juvenile Research, Chicago, Illinois 60608, USA
    J Child Adolesc Psychopharmacol 16:517-24. 2006
    ..This pilot study examined the effectiveness of memantine hydrochloride in improving cognitive functioning and behavioral symptoms in children with pervasive developmental disorders (PDDs)...
  76. pmc An association study of the brain-derived neurotrophic factor Val66Met polymorphism and amphetamine response
    Brody A Flanagin
    Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet B Neuropsychiatr Genet 141:576-83. 2006
    ..These results suggest that BDNF is related to the subjective and physical response to low doses of AMPH...
  77. ncbi request reprint Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia
    Mary V Relling
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, 332 N Lauderdale, Memphis, TN 38105 2794, USA
    J Clin Oncol 22:3930-6. 2004
    ..Putative risk factors for osteonecrosis have included being female, white race, and older age. Our goal was to define possible genetic risk factors for osteonecrosis among children treated for newly diagnosed ALL...
  78. ncbi request reprint Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 12:949-54. 2004
    ..8 x 10(-5)). This variant explained the evidence for linkage in this region when included as a covariate in the linkage analysis (change in LOD from 1.87 to 0.16), indicating that ITGB3 may be an important serotonin QTL...
  79. pmc Genetic studies of stuttering in a founder population
    Jacqueline K Wittke-Thompson
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, United States
    J Fluency Disord 32:33-50. 2007
    ....
  80. pmc New complexities in the genetics of stuttering: significant sex-specific linkage signals
    Rathi Suresh
    Department of Genetics and Development, Columbia University, New York, NY, USA
    Am J Hum Genet 78:554-63. 2006
    ..Our results support the hypothesis that the genetic component to stuttering has significant sex effects...
  81. ncbi request reprint Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia
    Shinji Kishi
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, University of Tennessee, Memphis, TN 38105, USA
    Blood 103:67-72. 2004
    ..Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race...
  82. ncbi request reprint Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia
    Shinji Kishi
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, 332 North Lauderdale, Memphis, TN 38105, USA
    J Clin Oncol 21:3084-91. 2003
    ....
  83. ncbi request reprint Remission status after long-term sertraline treatment of pediatric obsessive-compulsive disorder
    Karen Dineen Wagner
    Division of Child and Adolescent Psychiatry, University of Texas Medical Branch, Galveston, Texas 77555, USA
    J Child Adolesc Psychopharmacol 13:S53-60. 2003
    ..The goal of the current analysis is to evaluate remission among children and adolescents with OCD treated with sertraline for 12 months...
  84. ncbi request reprint Global gene expression as a function of germline genetic variation
    Deborah French
    Department of Pharmaceutical Sciences, St Jude Children s Research Hospital, Memphis, TN 38105 2794, USA
    Hum Mol Genet 14:1621-9. 2005
    ....