Etiologies underlying sex differences in Autism Spectrum Disorders

[1]  A. Ramasamy,et al.  Widespread sex differences in gene expression and splicing in the adult human brain , 2013, Nature Communications.

[2]  A. Siegel,et al.  Gestational flu exposure induces changes in neurochemicals, affiliative hormones and brainstem inflammation, in addition to autism-like behaviors in mice , 2013, Brain, Behavior, and Immunity.

[3]  Sylvie Goldman,et al.  Opinion: Sex, Gender and the Diagnosis of Autism - A Biosocial View of the Male Preponderance. , 2013, Research in autism spectrum disorders.

[4]  Robert V Farese,et al.  Dissociation of Frontotemporal Dementia–Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice , 2013, The Journal of Neuroscience.

[5]  V. Martínez‐Cerdeño,et al.  Microglia Regulate the Number of Neural Precursor Cells in the Developing Cerebral Cortex , 2013, The Journal of Neuroscience.

[6]  R. Saffery,et al.  The importance of the intrauterine environment in shaping the human neonatal epigenome. , 2013, Epigenomics.

[7]  M. McCarthy,et al.  Microglia Are Essential to Masculinization of Brain and Behavior , 2013, The Journal of Neuroscience.

[8]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[9]  S. Baron-Cohen,et al.  Prenatal versus postnatal sex steroid hormone effects on autistic traits in children at 18 to 24 months of age , 2012, Molecular Autism.

[10]  M. Maybery,et al.  Perinatal testosterone exposure and autistic-like traits in the general population: a longitudinal pregnancy-cohort study , 2012, Journal of Neurodevelopmental Disorders.

[11]  Katherine R. Smith,et al.  Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. , 2012, American journal of human genetics.

[12]  J. Olsen,et al.  Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study , 2012, European Child & Adolescent Psychiatry.

[13]  L. Garcia-Segura,et al.  Prenatal stress causes alterations in the morphology of microglia and the inflammatory response of the hippocampus of adult female mice , 2012, Journal of Neuroinflammation.

[14]  Tomas Babak,et al.  Critical Evaluation of Imprinted Gene Expression by RNA–Seq: A New Perspective , 2012, PLoS genetics.

[15]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[16]  A. Arnold The end of gonad-centric sex determination in mammals. , 2012, Trends in genetics : TIG.

[17]  D. Rossignol,et al.  A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures , 2011, Molecular Psychiatry.

[18]  S Baron-Cohen,et al.  Sex-specific serum biomarker patterns in adults with Asperger's syndrome , 2011, Molecular Psychiatry.

[19]  J. Golding,et al.  Social and demographic factors that influence the diagnosis of autistic spectrum disorders , 2011, Social Psychiatry and Psychiatric Epidemiology.

[20]  A. Nimmerjahn,et al.  The Role of Microglia in the Healthy Brain , 2011, The Journal of Neuroscience.

[21]  C. Lajonchere,et al.  Genetic heritability and shared environmental factors among twin pairs with autism. , 2011, Archives of general psychiatry.

[22]  J. Gilbert,et al.  An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males , 2011, Molecular autism.

[23]  B. Korf,et al.  Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders , 2011, American journal of medical genetics. Part A.

[24]  M. Mishina,et al.  IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase δ , 2011, The Journal of Neuroscience.

[25]  L. Al-Ayadhi,et al.  Low plasma progranulin levels in children with autism , 2011, Journal of Neuroinflammation.

[26]  S. Baron-Cohen,et al.  Increased serum androstenedione in adults with autism spectrum conditions , 2011, Psychoneuroendocrinology.

[27]  D. Spiegelman,et al.  Perinatal and Neonatal Risk Factors for Autism: A Comprehensive Meta-analysis , 2011, Pediatrics.

[28]  M. Hines,et al.  Gender development and the human brain. , 2011, Annual review of neuroscience.

[29]  Michael Wigler,et al.  Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses , 2011, Neuron.

[30]  S. van Rijn,et al.  Vulnerability for psychopathology in Klinefelter syndrome: age‐specific and cognitive‐specific risk profiles , 2011, Acta paediatrica.

[31]  Rebecca C. Knickmeyer,et al.  Why Are Autism Spectrum Conditions More Prevalent in Males? , 2011, PLoS biology.

[32]  D. Pfaff,et al.  Male predominance in autism: neuroendocrine influences on arousal and social anxiety , 2011, Autism research : official journal of the International Society for Autism Research.

[33]  B. Ray,et al.  Autism, Alzheimer disease, and fragile X , 2011, Neurology.

[34]  D. Rujescu,et al.  Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder , 2011, Genes, brain, and behavior.

[35]  W. Brown,et al.  Autism severity is associated with child and maternal MAOA genotypes , 2011, Clinical genetics.

[36]  A. Dufke,et al.  Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature , 2011, American journal of medical genetics. Part A.

[37]  Azhari Aziz,et al.  DIA1R Is an X-Linked Gene Related to Deleted In Autism-1 , 2011, PloS one.

[38]  P. Demougin,et al.  Deletion in Xp22.11: PTCHD1 is a candidate gene for X‐linked intellectual disability with or without autism , 2011, Clinical genetics.

[39]  Lei Yao,et al.  CCL3L1 Copy Number Variation and Susceptibility to HIV-1 Infection: A Meta-Analysis , 2010, PloS one.

[40]  L. Gallagher,et al.  Increased BDNF levels and association with the NTRK2 gene suggest a disruption of BDNF/TRKB signaling in autism , 2010, International Journal of Developmental Neuroscience.

[41]  Yi Zhang,et al.  Sibling recurrence and the genetic epidemiology of autism. , 2010, The American journal of psychiatry.

[42]  L. Carrel,et al.  Strong purifying selection at genes escaping X chromosome inactivation. , 2010, Molecular biology and evolution.

[43]  Stephen J. Guter,et al.  Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability , 2010, Science Translational Medicine.

[44]  P. Wijchers,et al.  Sexual dimorphism in mammalian autosomal gene regulation is determined not only by Sry but by sex chromosome complement as well. , 2010, Developmental cell.

[45]  D. Ostatníková,et al.  Polymorphisms in Genes Involved in Testosterone Metabolism in Slovak Autistic Boys , 2010 .

[46]  E. Courchesne,et al.  Microglial Activation and Increased Microglial Density Observed in the Dorsolateral Prefrontal Cortex in Autism , 2010, Biological Psychiatry.

[47]  Jiangwen Zhang,et al.  Sex-Specific Parent-of-Origin Allelic Expression in the Mouse Brain , 2010, Science.

[48]  Aubyn C. Stahmer,et al.  Age of diagnosis among Medicaid-enrolled children with autism, 2001-2004. , 2010, Psychiatric services.

[49]  S. Bekiranov,et al.  Amyloid β Precursor Protein Regulates Male Sexual Behavior , 2010, The Journal of Neuroscience.

[50]  Dorothy V M Bishop,et al.  Autism, language and communication in children with sex chromosome trisomies , 2010, Archives of Disease in Childhood.

[51]  S. Baron-Cohen,et al.  Foetal testosterone and autistic traits in 18 to 24-month-old children , 2010, Molecular autism.

[52]  J. Rucklidge Gender differences in attention-deficit/hyperactivity disorder. , 2010, The Psychiatric clinics of North America.

[53]  J. Shendure,et al.  Global survey of escape from X inactivation by RNA-sequencing in mouse. , 2010, Genome research.

[54]  N. Harada,et al.  The Androgen Receptor Governs the Execution, but Not Programming, of Male Sexual and Territorial Behaviors , 2010, Neuron.

[55]  Erik T Parner,et al.  Maternal Infection Requiring Hospitalization During Pregnancy and Autism Spectrum Disorders , 2010, Journal of autism and developmental disorders.

[56]  C. Rice,et al.  Sex differences in the evaluation and diagnosis of autism spectrum disorders among children. , 2010, Disability and health journal.

[57]  W. McMahon,et al.  A unified theory of autism revisited: linkage evidence points to chromosome X using a high‐risk subset of AGRE families , 2010, Autism research : official journal of the International Society for Autism Research.

[58]  D. Hewedi,et al.  Oxidative stress in Egyptian children with autism: relation to autoimmunity , 2010, Journal of Neuroimmunology.

[59]  P. Patterson Immune involvement in schizophrenia and autism: Etiology, pathology and animal models , 2009, Behavioural Brain Research.

[60]  M. Blasco,et al.  Telomere shortening relaxes X chromosome inactivation and forces global transcriptome alterations , 2009, Proceedings of the National Academy of Sciences.

[61]  C. Barthélémy,et al.  Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level , 2009, Biological Psychiatry.

[62]  M. McCarthy,et al.  Prostaglandin E2-Induced Masculinization of Brain and Behavior Requires Protein Kinase A, AMPA/Kainate, and Metabotropic Glutamate Receptor Signaling , 2009, The Journal of Neuroscience.

[63]  M. Tzetis,et al.  A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population. , 2009, Genetic testing and molecular biomarkers.

[64]  Gayane Yenokyan,et al.  Characteristics and concordance of autism spectrum disorders among 277 twin pairs. , 2009, Archives of pediatrics & adolescent medicine.

[65]  Yun-Fai Chris Lau,et al.  Regulation of monoamine oxidase A by the SRY gene on the Y chromosome , 2009, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[66]  S. Hartley,et al.  Sex Differences in Autism Spectrum Disorder: An Examination of Developmental Functioning, Autistic Symptoms, and Coexisting Behavior Problems in Toddlers , 2009, Journal of autism and developmental disorders.

[67]  J. Rubenstein,et al.  Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer , 2009, Molecular Psychiatry.

[68]  Ankita Patel,et al.  The Xp contiguous deletion syndrome and autism , 2009, American journal of medical genetics. Part A.

[69]  C. Gillberg,et al.  Possible association between the androgen receptor gene and autism spectrum disorder , 2009, Psychoneuroendocrinology.

[70]  S. Baron-Cohen,et al.  Genes related to sex steroids, neural growth, and social–emotional behavior are associated with autistic traits, empathy, and Asperger syndrome , 2009, Autism research : official journal of the International Society for Autism Research.

[71]  Robert T. Schultz,et al.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes , 2009, Nature.

[72]  E. Hollander,et al.  Brief Report: Parental Age and the Sex Ratio in Autism , 2009, Journal of autism and developmental disorders.

[73]  M. Kas,et al.  Psychiatric Characteristics in a Self-Selected Sample of Boys With Klinefelter Syndrome , 2009, Pediatrics.

[74]  Craig Newschaffer,et al.  Timing of identification among children with an autism spectrum disorder: findings from a population-based surveillance study. , 2009, Journal of the American Academy of Child and Adolescent Psychiatry.

[75]  F. Tronche,et al.  Conditional Inactivation of Androgen Receptor Gene in the Nervous System: Effects on Male Behavioral and Neuroendocrine Responses , 2009, The Journal of Neuroscience.

[76]  Yinglei Lai,et al.  Gene expression profiling differentiates autism case–controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism , 2009, Autism research : official journal of the International Society for Autism Research.

[77]  A. Arnold,et al.  Mouse Models for Evaluating Sex Chromosome Effects that Cause Sex Differences in Non‐Gonadal Tissues , 2009, Journal of neuroendocrinology.

[78]  Sangita B. Patil,et al.  Elevated immune response in the brain of autistic patients , 2009, Journal of Neuroimmunology.

[79]  A. Arnold,et al.  What does the “four core genotypes” mouse model tell us about sex differences in the brain and other tissues? , 2009, Frontiers in Neuroendocrinology.

[80]  E. Fombonne,et al.  Mutations in the calcium-related gene IL1RAPL1 are associated with autism. , 2008, Human molecular genetics.

[81]  Russell S. Kirby,et al.  Advanced Parental Age and the Risk of Autism Spectrum Disorder , 2008, American journal of epidemiology.

[82]  K. Munir,et al.  Prenatal stress and risk for autism , 2008, Neuroscience & Biobehavioral Reviews.

[83]  T. Nishiyama,et al.  Genetic influences on the broad spectrum of autism: Study of proband‐ascertained twins , 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[84]  T. Bale,et al.  Sex-Specific Programming of Offspring Emotionality after Stress Early in Pregnancy , 2008, The Journal of Neuroscience.

[85]  C. Walker,et al.  Chronic maternal stress affects growth, behaviour and hypothalamo–pituitary–adrenal function in juvenile offspring , 2008, Hormones and Behavior.

[86]  C. Disteche,et al.  Sex-Specific Expression of the X-Linked Histone Demethylase Gene Jarid1c in Brain , 2008, PloS one.

[87]  R. Hagerman,et al.  A new look at XXYY syndrome: Medical and psychological features , 2008, American journal of medical genetics. Part A.

[88]  H. Ropers,et al.  Genetics of intellectual disability. , 2008, Current opinion in genetics & development.

[89]  Károly Mirnics,et al.  Immune transcriptome alterations in the temporal cortex of subjects with autism , 2008, Neurobiology of Disease.

[90]  D. Pfaff,et al.  Non-genomic actions of estrogens and their interaction with genomic actions in the brain , 2008, Frontiers in Neuroendocrinology.

[91]  D. Geschwind,et al.  Advances in autism genetics: on the threshold of a new neurobiology , 2008, Nature Reviews Genetics.

[92]  L. Willatt,et al.  X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits , 2008, Journal of Medical Genetics.

[93]  Marc Cruts,et al.  Loss of progranulin function in frontotemporal lobar degeneration. , 2008, Trends in genetics : TIG.

[94]  Timothy M. DeLorey,et al.  Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder , 2008, Behavioural Brain Research.

[95]  Hanlin Gao,et al.  A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD) , 2008, American journal of medical genetics. Part A.

[96]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[97]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[98]  T. Kikusui,et al.  Alteration of behavioural phenotype in mice by targeted disruption of the progranulin gene , 2007, Behavioural Brain Research.

[99]  A. Scarpa,et al.  The importance of physician knowledge of autism spectrum disorder: results of a parent survey , 2007, BMC pediatrics.

[100]  Rebekah K. Stevenson,et al.  Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism , 2007, Clinical genetics.

[101]  David A Geier,et al.  A prospective assessment of androgen levels in patients with autistic spectrum disorders: biochemical underpinnings and suggested therapies. , 2007, Neuro endocrinology letters.

[102]  Kenny Q. Ye,et al.  A unified genetic theory for sporadic and inherited autism , 2007, Proceedings of the National Academy of Sciences.

[103]  L. Henderson Steroid modulation of GABAA receptor-mediated transmission in the hypothalamus: Effects on reproductive function , 2007, Neuropharmacology.

[104]  P. Nolan,et al.  Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model. , 2007, American journal of human genetics.

[105]  A. Rao,et al.  The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation , 2007, Nature.

[106]  A. Zinn,et al.  A Turner syndrome neurocognitive phenotype maps to Xp22.3 , 2007, Behavioral and Brain Functions.

[107]  T. Bale,et al.  Early prenatal stress impact on coping strategies and learning performance is sex dependent , 2007, Physiology & Behavior.

[108]  V. Meiner,et al.  Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect. , 2007, Journal of intellectual disability research : JIDR.

[109]  Rebecca C. Knickmeyer,et al.  Elevated rates of testosterone-related disorders in women with autism spectrum conditions , 2007, Hormones and Behavior.

[110]  Alexander Kolevzon,et al.  Prenatal and perinatal risk factors for autism: a review and integration of findings. , 2007, Archives of pediatrics & adolescent medicine.

[111]  K. Helin,et al.  RBP2 Belongs to a Family of Demethylases, Specific for Tri-and Dimethylated Lysine 4 on Histone 3 , 2007, Cell.

[112]  Julie Daniels,et al.  The epidemiology of autism spectrum disorders. , 2007, Annual review of public health.

[113]  A. Bessis,et al.  Microglial control of neuronal death and synaptic properties , 2007, Glia.

[114]  D. Pfaff,et al.  Membrane-initiated actions of estrogens in neuroendocrinology: emerging principles. , 2007, Endocrine reviews.

[115]  S. Grant,et al.  The role of neuronal complexes in human X-linked brain diseases. , 2007, American journal of human genetics.

[116]  David A. Geier,et al.  A Clinical and Laboratory Evaluation of Methionine Cycle-Transsulfuration and Androgen Pathway Markers in Children with Autistic Disorders , 2006, Hormone Research in Paediatrics.

[117]  H. Willard,et al.  X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. , 2006, American journal of human genetics.

[118]  D. Clapham,et al.  CACNA1H Mutations in Autism Spectrum Disorders* , 2006, Journal of Biological Chemistry.

[119]  L. Carrel,et al.  Genomic Environment Predicts Expression Patterns on the Human Inactive X Chromosome , 2006, PLoS genetics.

[120]  Rebecca C. Knickmeyer,et al.  Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia , 2006, Hormones and Behavior.

[121]  P. Bolton,et al.  Genetic heterogeneity between the three components of the autism spectrum: a twin study. , 2006, Journal of the American Academy of Child and Adolescent Psychiatry.

[122]  Rebecca C. Knickmeyer,et al.  Fetal testosterone and empathy: Evidence from the Empathy Quotient (EQ) and the “Reading the Mind in the Eyes” Test , 2006, Social neuroscience.

[123]  Christopher Gillberg,et al.  Brief Report: “The Autism Epidemic”. The Registered Prevalence of Autism in a Swedish Urban Area , 2006, Journal of autism and developmental disorders.

[124]  H. Kehrer-Sawatzki,et al.  Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers , 2006, American journal of medical genetics. Part A.

[125]  G. Neri,et al.  A truncating mutation in the IL1RAPL1 gene is responsible for X‐linked mental retardation in the MRX21 family , 2006, American journal of medical genetics. Part A.

[126]  Rebecca C. Knickmeyer,et al.  Sex Differences in the Brain: Implications for Explaining Autism , 2005, Science.

[127]  J. de Vellis,et al.  Microglia in health and disease , 2005, Journal of neuroscience research.

[128]  J. Lambert,et al.  Neurosteroids: endogenous regulators of the GABAA receptor , 2005, Nature Reviews Neuroscience.

[129]  R. Olsen,et al.  GABAA receptor beta3 subunit gene-deficient heterozygous mice show parent-of-origin and gender-related differences in beta3 subunit levels, EEG, and behavior. , 2005, Brain research. Developmental brain research.

[130]  L. Wilkinson,et al.  Imprinted gene expression in the brain , 2005, Neuroscience & Biobehavioral Reviews.

[131]  N. Craddock,et al.  Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients , 2005, Molecular Psychiatry.

[132]  L. Diergaarde,et al.  Disruption of Long-Term Alcohol-Related Memory Reconsolidation: Role of β-Adrenoceptors and NMDA Receptors , 2010, Front. Behav. Neurosci..

[133]  David L. Steffen,et al.  The DNA sequence of the human X chromosome , 2005, Nature.

[134]  H. Willard,et al.  X-inactivation profile reveals extensive variability in X-linked gene expression in females , 2005, Nature.

[135]  Erik Willcutt,et al.  Towards an understanding of unique and shared pathways in the psychopathophysiology of ADHD. , 2005, Developmental science.

[136]  Rebecca C. Knickmeyer,et al.  Foetal testosterone, social relationships, and restricted interests in children. , 2005, Journal of child psychology and psychiatry, and allied disciplines.

[137]  Laurent Mottron,et al.  NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population , 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[138]  A. Zimmerman,et al.  Neuroglial activation and neuroinflammation in the brain of patients with autism , 2005, Annals of neurology.

[139]  D. Hamson,et al.  Distribution of androgen receptor immunoreactivity in the brainstem of male rats , 2004, Neuroscience.

[140]  D. Geschwind,et al.  Evidence for sex-specific risk alleles in autism spectrum disorder. , 2004, American journal of human genetics.

[141]  M. Turner,et al.  Regulation of tyrosine hydroxylase gene transcription by Sry , 2004, Neuroscience Letters.

[142]  S. Miller,et al.  Microglia Initiate Central Nervous System Innate and Adaptive Immune Responses through Multiple TLRs1 , 2004, The Journal of Immunology.

[143]  S. Scherer,et al.  Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands , 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[144]  A. K. Naumova and S. Croteau,et al.  Mechanisms of Epigenetic Variation: Polymorphic Imprinting , 2004 .

[145]  M. McCarthy,et al.  Induction of PGE2 by estradiol mediates developmental masculinization of sex behavior , 2004, Nature Neuroscience.

[146]  S. Baron-Cohen,et al.  The Empathy Quotient: An Investigation of Adults with Asperger Syndrome or High Functioning Autism, and Normal Sex Differences , 2004, Journal of autism and developmental disorders.

[147]  Albert David,et al.  X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. , 2004, American journal of human genetics.

[148]  T. Siddique,et al.  Presence of dendritic cells, MCP‐1, and activated microglia/macrophages in amyotrophic lateral sclerosis spinal cord tissue , 2004, Annals of neurology.

[149]  T. Mukai,et al.  The Mouse Murr1 Gene Is Imprinted in the Adult Brain, Presumably Due to Transcriptional Interference by the Antisense-Oriented U2af1-rs1 Gene , 2004, Molecular and Cellular Biology.

[150]  Jeannie T. Lee,et al.  Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos , 2003, Nature.

[151]  F. Vasseur,et al.  Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation , 2003, Cytogenetic and Genome Research.

[152]  M. Hines,et al.  Spatial abilities following prenatal androgen abnormality: targeting and mental rotations performance in individuals with congenital adrenal hyperplasia , 2003, Psychoneuroendocrinology.

[153]  Darren J. Newton,et al.  The second to fourth digit ratio and variation in the androgen receptor gene , 2003 .

[154]  S. Horvath,et al.  Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. , 2003, Brain research. Molecular brain research.

[155]  Richard Robitaille,et al.  Glial Cells and Neurotransmission An Inclusive View of Synaptic Function , 2003, Neuron.

[156]  A. Kudwa,et al.  Double Oestrogen Receptor α and β Knockout Mice Reveal Differences in Neural Oestrogen‐Mediated Progestin Receptor Induction and Female Sexual Behaviour , 2003 .

[157]  Allan L Reiss,et al.  Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome , 2003, Biological Psychiatry.

[158]  E. Fombonne Epidemiological Surveys of Autism and Other Pervasive Developmental Disorders: An Update , 2003, Journal of autism and developmental disorders.

[159]  Carolyn J. Brown,et al.  A stain upon the silence: genes escaping X inactivation. , 2003, Trends in genetics : TIG.

[160]  T. Graves,et al.  The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes , 2003, Nature.

[161]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[162]  N. Niikawa,et al.  Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a. , 2003, Human molecular genetics.

[163]  L. Weiss,et al.  Sodium channels SCN1A, SCN2A and SCN3A in familial autism , 2003, Molecular Psychiatry.

[164]  Simon Baron-Cohen,et al.  The systemizing quotient: an investigation of adults with Asperger syndrome or high-functioning autism, and normal sex differences. , 2003, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

[165]  E. M. Scordalakes,et al.  Aggression in male mice lacking functional estrogen receptor alpha. , 2003, Behavioral neuroscience.

[166]  M. Vila,et al.  Pathogenic role of glial cells in Parkinson's disease , 2003, Movement disorders : official journal of the Movement Disorder Society.

[167]  R. Fields,et al.  New insights into neuron-glia communication. , 2002, Science.

[168]  M. McCarthy,et al.  A Novel Mechanism of Dendritic Spine Plasticity Involving Estradiol Induction of Prostaglandin-E2 , 2002, The Journal of Neuroscience.

[169]  Laura L. Carruth,et al.  Sex chromosome genes directly affect brain sexual differentiation , 2002, Nature Neuroscience.

[170]  H. Willard,et al.  Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. , 2002, American journal of human genetics.

[171]  A. Arnold,et al.  Sex differences in sex chromosome gene expression in mouse brain. , 2002, Human molecular genetics.

[172]  S. Baron-Cohen The extreme male brain theory of autism , 2002, Trends in Cognitive Sciences.

[173]  M. Eric Gershwin,et al.  Genetic and Immunologic Considerations in Autism , 2002, Neurobiology of Disease.

[174]  J. Graves From brain determination to testis determination: evolution of the mammalian sex-determining gene. , 2001, Reproduction, fertility, and development.

[175]  W. Vogel,et al.  A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? , 2001, Trends in genetics : TIG.

[176]  D. Pfaff,et al.  Early membrane estrogenic effects required for full expression of slower genomic actions in a nerve cell line , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[177]  J. Glass,et al.  Microglia in HIV‐associated neurological diseases , 2001, Microscopy research and technique.

[178]  S. Baron-Cohen,et al.  The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism. , 2001, Journal of child psychology and psychiatry, and allied disciplines.

[179]  Harumi Jyonouchi,et al.  Proinflammatory and regulatory cytokine production associated with innate and adaptive immune responses in children with autism spectrum disorders and developmental regression , 2001, Journal of Neuroimmunology.

[180]  M. Cazzola,et al.  Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. , 2000, Blood.

[181]  A. Sharp,et al.  Age- and tissue-specific variation of X chromosome inactivation ratios in normal women , 2000, Human Genetics.

[182]  I. Reisert,et al.  Developmental profile of Sry transcripts in mouse brain , 2000, Neurogenetics.

[183]  C. Tyler-Smith,et al.  New uses for new haplotypes the human Y chromosome, disease and selection. , 2000, Trends in genetics : TIG.

[184]  J. Favaloro,et al.  Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. , 2000, Journal of molecular endocrinology.

[185]  D. Skuse,et al.  Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment , 2000, Neuropsychologia.

[186]  J. Miles,et al.  Value of a clinical morphology examination in autism. , 2000, American journal of medical genetics.

[187]  S. Gartner HIV Infection and Dementia , 2000, Science.

[188]  C. Disteche,et al.  Escapees on the X chromosome. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[189]  C. Brown,et al.  Polymorphic X-chromosome inactivation of the human TIMP1 gene. , 1999, American journal of human genetics.

[190]  H. Willard,et al.  Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[191]  P. Rezaie,et al.  Colonisation of the developing human brain and spinal cord by microglia: a review , 1999, Microscopy research and technique.

[192]  D. Pfaff,et al.  Roles of estrogen receptor-alpha gene expression in reproduction-related behaviors in female mice. , 1998, Endocrinology.

[193]  E. Hampson,et al.  Spatial reasoning in children with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency , 1998 .

[194]  Dick F. Swaab,et al.  The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain , 1998, Neurogenetics.

[195]  D. Skuse,et al.  A study of females with deletions of the short arm of the X chromosome , 1998, Human Genetics.

[196]  Masatoshi Suzuki,et al.  Identification of a sex steroid-inducible gene in the neonatal rat hypothalamus , 1998, Neuroscience Letters.

[197]  G. Levi,et al.  Microglia as effector cells in brain damage and repair: focus on prostanoids and nitric oxide , 1998, Progress in Neurobiology.

[198]  D. Lubahn,et al.  Masculine Sexual Behavior Is Disrupted in Male and Female Mice Lacking a Functional Estrogen Receptor α Gene , 1997, Hormones and Behavior.

[199]  P. Roubertoux,et al.  Androgenic activity in autism. , 1997, The American journal of psychiatry.

[200]  S. Resnick,et al.  Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia , 1997, Psychoneuroendocrinology.

[201]  J. Sutcliffe,et al.  Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons , 1997, Nature Genetics.

[202]  V. Singh,et al.  Circulating autoantibodies to neuronal and glial filament proteins in autism. , 1997, Pediatric neurology.

[203]  P. A. Jacobs,et al.  Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function , 1997, Nature.

[204]  D. Pfaff,et al.  Behavioral effects of estrogen receptor gene disruption in male mice. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[205]  Marshall B. Jones,et al.  Nonfamiliality of the sex ratio in autism. , 1996, American journal of medical genetics.

[206]  D. Pfaff,et al.  Reversal of sex roles in genetic female mice by disruption of estrogen receptor gene. , 1996, Neuroendocrinology.

[207]  E. Salido,et al.  Characterization of the promoter region of human steriod sulfatase: A gene which escapes X inactivation , 1996, Somatic cell and molecular genetics.

[208]  C. Bishop,et al.  The genetic basis of XX-XY differences present before gonadal sex differentiation in the mouse. , 1995, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

[209]  S. Maxson,et al.  Transcription of the Y chromosomal gene, Sry, in adult mouse brain. , 1995, Brain research. Molecular brain research.

[210]  D. Cohen,et al.  Plasma androgens in autism , 1995, Journal of autism and developmental disorders.

[211]  D. Ferrari,et al.  Activation of microglial cells by β-amyloid protein and interferon-γ , 1995, Nature.

[212]  A. Bailey,et al.  Autism as a strongly genetic disorder: evidence from a British twin study , 1995, Psychological Medicine.

[213]  N. Chamberlain,et al.  The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. , 1994, Nucleic acids research.

[214]  J. Mallet,et al.  CATECHOLAMINERGIC METABOLISM AND AUTISM , 1994, Developmental medicine and child neurology.

[215]  A. Agulnik,et al.  A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. , 1994, Human molecular genetics.

[216]  H. Zoghbi,et al.  Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. , 1994, American journal of medical genetics.

[217]  A. Sinclair,et al.  The human SRY transcript. , 1993, Human molecular genetics.

[218]  D. Pfaff,et al.  Enduring consequences of neonatal treatment with antisense oligodeoxynucleotides to estrogen receptor messenger ribonucleic acid on sexual differentiation of rat brain. , 1993, Endocrinology.

[219]  D. Walker,et al.  Microglia in degenerative neurological disease , 1993, Glia.

[220]  R. Lovell-Badge,et al.  Expression of a candidate sex-determining gene during mouse testis differentiation , 1990, Nature.

[221]  J. Zonana,et al.  Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. , 1990, American journal of medical genetics.

[222]  C. Gillberg,et al.  A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. , 1989, Journal of child psychology and psychiatry, and allied disciplines.

[223]  S. Latt,et al.  Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. , 1989, American journal of medical genetics.

[224]  P. Yen,et al.  The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the Y chromosome during primate evolution , 1988, Cell.

[225]  S. Resnick,et al.  Early hormonal influences on cognitive functioning in congenital adrenal hyperplasia. , 1986 .

[226]  P. Corbier,et al.  Gonadal steroid concentrations in serum and hypothalamus of the rat at birth: aromatization of testosterone to 17 beta-estradiol. , 1984, Endocrinology.

[227]  T. Mohandas,et al.  Differential expression of steroid sulphatase locus on active and inactive human X chromosome , 1982, Nature.

[228]  S. Chess,et al.  Behavioral consequences of congenital rubella. , 1978, The Journal of pediatrics.

[229]  S. Folstein,et al.  Infantile autism: a genetic study of 21 twin pairs. , 1977, Journal of child psychology and psychiatry, and allied disciplines.

[230]  C. Swisher,et al.  Letter: Congenital rubella and autistic behavior. , 1975, The New England journal of medicine.

[231]  F. Muggia,et al.  Letter: Treatment of "pancreatic cholera". , 1975, The New England journal of medicine.

[232]  A. Gore,et al.  Dynamic postnatal developmental and sex-specific neuroendocrine effects of prenatal polychlorinated biphenyls in rats. , 2014, Molecular endocrinology.

[233]  D. Pfaff,et al.  Epigenetic Mechanisms: DNA Methylation and Histone Protein Modification 63 , 2013 .

[234]  D. Pfaff,et al.  Hormone-Dependent Chromatin Modifications Related to Sexually Differentiated Behaviors , 2013 .

[235]  D. Pfaff,et al.  Gene expression in neuroendocrine cells during the critical period for sexual differentiation of the brain. , 2010, Progress in brain research.

[236]  E. Vilain,et al.  Genes and brain sex differences. , 2010, Progress in brain research.

[237]  M. Maes,et al.  Serum testosterone concentration in male autistic youngsters. , 2010, Neuro endocrinology letters.

[238]  F. Mochel,et al.  Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. , 2008, European journal of medical genetics.

[239]  Margaret M McCarthy,et al.  Estradiol and the developing brain. , 2008, Physiological reviews.

[240]  H. Engeland,et al.  Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism , 2006, Molecular Psychiatry.

[241]  H. Cohly,et al.  Immunological findings in autism. , 2005, International review of neurobiology.

[242]  H. Ropers,et al.  X-linked mental retardation , 2005, Nature Reviews Genetics.

[243]  H. Ropers,et al.  X-linked steroid sulfatase: Evidence for different gene-dosage in males and females , 2004, Human Genetics.

[244]  N. Skakkebæk,et al.  Steroid sulphatase in man: A non inactivated X-locus with partial gene dosage compensation , 2004, Human Genetics.

[245]  J. Steyaert,et al.  The XYY syndrome: a follow-up study on 38 boys. , 2003, Genetic counseling.

[246]  K. Wallen,et al.  Masculinization and Defeminization in Altricial and Precocial Mammals: Comparative Aspects of Steroid Hormone Action , 2002 .

[247]  S. Baron-Cohen,et al.  Foetal testosterone and eye contact in 12-month-old human infants , 2002 .

[248]  G. J. Vries,et al.  Anatomy, Development, and Function of Sexually Dimorphic Neural Circuits in the Mammalian Brain , 2002 .

[249]  D. Geschwind,et al.  Neurobehavioral phenotype of Klinefelter syndrome. , 2000, Mental retardation and developmental disabilities research reviews.

[250]  S. Ogawa From the Cover: Abolition of male sexual behaviors in mice lacking estrogen receptors alpha and beta (alpha beta ERKO) , 2000 .

[251]  J. Shih,et al.  Monoamine oxidase: from genes to behavior. , 1999, Annual review of neuroscience.

[252]  D. Skuse,et al.  Xp deletions associated with autism in three females , 1999, Human Genetics.

[253]  D. Skuse,et al.  Autism in association with Turner syndrome: Genetic implications for male vulnerability to pervasive developmental disorders , 1999 .

[254]  D. Pfaff,et al.  Modifications of testosterone-dependent behaviors by estrogen receptor-alpha gene disruption in male mice. , 1998, Endocrinology.

[255]  E. Salido,et al.  Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. , 1994, Human molecular genetics.

[256]  M. Lyon,et al.  Age related reactivation of an X-linked gene , 1987, Nature.

[257]  T. Kay,et al.  Psychosocial functioning in girls with Turner's syndrome and short stature: social skills, behavior problems, and self-concept. , 1986, Journal of the American Academy of Child Psychiatry.

[258]  J. Winter,et al.  The Fetal Hormonal Environment and its Effect on the Morphogenesis of the Genital System , 1981 .

[259]  J. Weisz,et al.  Plasma testosterone and progesterone titers of pregnant rats, their male and female fetuses, and neonatal offspring. , 1980, Endocrinology.

[260]  D. Pfaff Estrogens and brain function , 1980 .

[261]  C. Swisher,et al.  Congenital rubella and autistic behavior , 1975 .

[262]  D. Pfaff,et al.  Neonatal androgen effects on sexual and non-sexual behavior of adult rats tested under various hormone regimes. , 1971, Neuroendocrinology.

[263]  K. H. Albrecht,et al.  Supplemental Experimental Procedures cRNA Probe and Radioactive In Situ Hybridization , 2022 .