Cognitive and behavioral profile of fragile X boys: correlations to molecular data.

No abstract is available for this paper.

• Publication year

  2000

• Venue

  American journal of medical genetics

• Publication date

  2000-11-13

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/1096-8628(20001113)95:2<150::AID-AJMG11>3.0.CO;2-1PMID 11078566
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Development, behaviour and seizures in 300 cases of tuberous sclerosis.

  2008cited by this paper
• Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

  2000cited by this paper
• Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.

  1999cited by this paper
• [Kaufman Assessment Battery for Children. Differential evaluation of (partial) intellectual ability of mentally handicapped adults].

  1998cited by this paper
• Kaufman-Assessment Battery for Children Differenzierende Beurteilung der intellektuellen (Teil)leistungsfähigkeit geistig behinderter Erwachsener

  1998cited by this paper
• Rapid Protein Sequencing by Tandem Mass Spectrometry and cDNA Cloning of p20-CGGBP

  1997cited by this paper
• Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression.

  1997cited by this paper
• Annotation: tuberous sclerosis.

  1997cited by this paper
• Molecular-clinical correlations in males with an expanded FMR1 mutation.

  1996influential reference
• Fragile X Syndrome

  1996influential reference
• Fragile X syndrome. II. Cognitive and behavioral correlates of mutations of the FMR-1 gene

  1996cited by this paper
• Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.

  1996cited by this paper
• Purification of Nuclear Proteins from Human HeLa Cells That Bind Specifically to the Unstable Tandem Repeat (CGG) in the Human FMR1 Gene (*)

  1996cited by this paper
• A controlled study of longitudinal IQ changes in females and males with fragile X syndrome.

  1996cited by this paper
• Normal phenotype in two brothers with a full FMR1 mutation.

  1995cited by this paper
• アメリカ合衆国におけるKaufman Assessment Battery for Childrenに関する研究動向

  1995cited by this paper
• Quantitative comparison of FMR1 gene expression in normal and premutation alleles.

  1995cited by this paper
• Quantitative comparison of FMR1 gene expression in normal and premutation alleles.

  1995cited by this paper
• Specification of the neurobehavioral phenotype in males with fragile X syndrome.

  1995cited by this paper
• Conservation of CGG region in FMR1 gene in mammals.

  1994cited by this paper
• High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

  1994cited by this paper
• Behavioural and emotional disturbance in fragile X syndrome.

  1994cited by this paper
• Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome.

  1994cited by this paper
• A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

  1994cited by this paper
• AUTISTIC BEHAVIOUR AND ATTENTION DEFICITS IN TUBEROUS SCLEROSIS: A POPULATION‐BASED STUDY

  1994cited by this paper
• Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

  1994cited by this paper
• Diagnostic and Statistical Manual of Mental Disorders, 4th Ed.

  1994cited by this paper
• Molecular-clinical correlations in children and adults with fragile X syndrome.

  1993cited by this paper
• Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

  1993cited by this paper
• In vitro DNA methylation inhibits FMR-1 promoter.

  1993cited by this paper
• A prevalence study of autism in tuberous sclerosis

  1993cited by this paper
• The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

  1993cited by this paper
• Genotype-phenotype relationships in fragile X syndrome: a family study.

  1993cited by this paper
• [Adaptation of the Kaufman Assessment Battery for Children for German- speaking areas. Part 1: Introduction of the battery].

  1992cited by this paper
• K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation.

  1992influential reference
• [Revision of the Kaufman Assessment Battery for Children for German speaking regions. Part 2: Areas of application and criteria of reliability].

  1992cited by this paper
• Bearbeitung der Kaufman-Assessment Battery for Children (K-ABC) für den deutschsprachigen Raum. II : Anwendungsbereich und Gütekriterien

  1992cited by this paper
• Abnormal behaviors of young girls with fragile X syndrome.

  1992cited by this paper
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

  1991influential reference
• Hyperactivity and the Fragile X Syndrome

  1991cited by this paper
• Prevalence of fragile X syndrome.

  1991cited by this paper
• Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

  1991cited by this paper
• Neuropsychiatric Aspects of Tuberous Sclerosis

  1991cited by this paper
• Manual for the child behavior checklist/4-18 and 1991 profile

  1991cited by this paper
• Developmental implications of changing trajectories of IQ in males with fragile X syndrome.

  1990cited by this paper
• Genetic aspects of tuberous sclerosis in the west of Scotland.

  1989cited by this paper
• Cognitive profiles of boys with the fragile X syndrome.

  1988cited by this paper
• Cognitive, behavioral, and adaptive functioning in fragile X and non-fragile X retarded men

  1988cited by this paper
• Enuresis in Seven‐Year‐Old Children

  1988cited by this paper
• Fragile X syndrome: genetic predisposition to psychopathology

  1988cited by this paper
• Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients

  1987influential reference
• The fragile X syndrome in a large family. II. Psychological investigations.

  1987cited by this paper
• PSYCHIATRIC DISORDER AMONG CHILDREN WITH TUBEROUS SCLEROSIS

  1987cited by this paper
• A profile of cognitive deficit in females from fragile X families.

  1986cited by this paper
• Profile analysis of standardized intelligence test performance of very low functioning individuals

  1985cited by this paper

• FMRP expression correlates with IQ in both PBMCs and fibroblasts from individuals with a FMR1 mutation.

  2024cites this paper
• Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review

  2022cites this paper
• Attention/Deficit Hyperactivity Disorder in Adolescent and Young Adult Males With Fragile X Syndrome.

  2022cites this paper
• Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities.

  2022cites this paper
• Neuropsychological and ASD phenotypes in rare genetic syndromes: A critical review of the literature

  2021cites this paper
• The rst awake simultaneous PET-MR study of an adult with fragile X syndrome: A case report

  2021cites this paper
• The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome

  2021cites this paper
• Verhaltensauffälligkeiten von jungen Männern mit Fragilem-X-Syndrom und die familiäre Zufriedenheit aus Elternsicht

  2021cites this paper
• Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

  2021cites this paper
• Incontinence in persons with tuberous sclerosis complex

  2020cites this paper
• Understanding attention, memory and social biases in fragile X syndrome: Going below the surface with a multi-method approach.

  2020cites this paper
• Disentangling autism spectrum and attention-deficit/hyperactivity symptoms over development in fragile X syndrome.

  2020cites this paper
• Care provision for people with Fragile X Syndrome: Should it be need or diagnosis driven?

  2020cites this paper
• Executive Function in Fragile X Syndrome: A Systematic Review

  2019cites this paper
• Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study

  2019cites this paper
• Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

  2019cites this paper
• Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

  2019cites this paper
• Utility of the Hebb–Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans

  2018cites this paper
• Intellectual Disability in the Elderly

  2018cites this paper
• Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome

  2018cites this paper
• Prevalence And Predictors Of Attention Deficit Hyperactivity Disorder In Adolescent And Adult Males With Fragile X Syndrome And Autism Spectrum Disorder

  2018influential citation
• Genetic Syndromes and Developmental Risk for Autism Spectrum and Attention Deficit Hyperactivity Disorders: Insights From Fragile X Syndrome

  2017cites this paper
• Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety

  2017cites this paper
• A Comparative Perspective on Wnt/β-Catenin Signalling in Cell Fate Determination.

  2017cites this paper
• ADHD Symptoms, Social Problems, And Independence In Adolescent And Young Adult Males With FXS

  2016influential citation
• Fragile X Syndrome as a multilevel model for understanding behaviorally defined disorders

  2016cites this paper
• Translational Research for Pediatric Lower Urinary Tract Dysfunction

  2016cites this paper
• HPA axis function predicts development of working memory in boys with FXS.

  2016cites this paper
• Adaptive behaviour of Chinese boys with fragile X syndrome.

  2016cites this paper
• Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting

  2016cites this paper
• INTERACTIONAL STYLE AND SUBJECTIVE STRESS IN MOTHERS OF YOUNG CHILDREN WITH FRAGILE X SYNDROME, DOWN’S SYNDROME OR TYPICAL DEVELOPMENT

  2016cites this paper
• ASD, ADHD, mental health conditions and psychopharmacology in neurogenetic syndromes: parent survey.

  2015cites this paper
• Developmental trajectories of attentional control in preschool males with fragile X syndrome.

  2015cites this paper
• Treatment of Fragile X Syndrome with a Neuroactive Steroid

  2015cites this paper
• Rubinstein-Taybi syndrome : from behaviour to cognition

  2014cites this paper
• Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

  2014cites this paper
• How provision for ADHD can be made within Schools

  2014cites this paper
• Cognitive aspects of Fragile X syndrome.

  2014influential citation
• Improving IQ measurement in intellectual disabilities using true deviation from population norms

  2014cites this paper
• Einflussfaktoren auf den Therapieerfolg bei Ausscheidungsstörungen

  2014cites this paper
• People with intellectual disability: what do we know about adulthood and life expectancy?

  2013cites this paper
• Urinary incontinence in children with special needs.

  2013cites this paper
• Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486

  2013cites this paper
• Urinary incontinence in children with special needs

  2013cites this paper
• Elimination disorders in persons with Prader–Willi and Fragile‐X syndromes

  2013influential citation
• Visual Spatial Learning and Memory in Fragile X Syndrome and fmr1 Knockout Mice

  2013cites this paper
• Fragile X Syndrome and X-Linked Intellectual Disability

  2013cites this paper
• Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome

  2013cites this paper
• Het fragiele-X-syndroom: cognitieve vaardigheden en onderliggende problemen in de informatieverwerking

  2012cites this paper
• Fragile X syndrome and targeted treatment trials.

  2012cites this paper
• Fragile X syndrome: a psychiatric perspective.

  2012cites this paper
• Behavioural phenotypes and special educational needs: is aetiology important in the classroom?

  2012cites this paper
• Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies.

  2012cites this paper
• Incontinence in Individuals with Rett Syndrome: A Comparative Study

  2012influential citation
• Fragile X Syndrome and Elimination Disorders in a 6-Year-Old Girl

  2011cites this paper
• Treatment effects of stimulant medication in young boys with fragile X syndrome

  2011cites this paper
• Fragile X syndrome: lifespan developmental implications for those without as well as with intellectual disability

  2011cites this paper
• Cognitive-adaptive disabilities.

  2011cites this paper
• Prader-Willi syndrome : genotype and phenotype at adult age

  2011cites this paper
• Symptoms of Attention Deficit Hyperactivity Disorder in Children and Adults with Intellectual Disability: A Review

  2011cites this paper
• The Psychiatric Presentation of Fragile X: Evolution of the Diagnosis and Treatment of the Psychiatric Comorbidities of Fragile X Syndrome

  2011cites this paper
• Urinary incontinence in persons with Prader‐Willi Syndrome

  2010cites this paper
• Principles and Practice of Lifespan Developmental Neuropsychology: Intellectual disability across the lifespan

  2010cites this paper
• Profiling Fragile X Syndrome in males: strengths and weaknesses in cognitive abilities.

  2010cites this paper
• A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb‐Williams mazes

  2010cites this paper
• 31 – Genetics and Psychiatry

  2010cites this paper
• Early Developmental Alterations in GABAergic Protein Expression in Fragile X Knockout Mice

  2010cites this paper
• Early developmental alterations in GABAergic protein expression in fragile X knockout mice.

  2010cites this paper
• The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes

  2009cites this paper
• Advances in the Treatment of Fragile X Syndrome

  2009cites this paper
• Anxiety disorders in children with Williams syndrome, their mothers, and their siblings: Implications for the etiology of anxiety disorders

  2009cites this paper
• Genetics and Psychiatry

  2008cites this paper
• Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities.

  2008cites this paper
• Fragile x-syndrome: clinical and molecular studies.

  2008cites this paper
• Attention and behavioral inhibition in young males with fragile X syndrome and/or attention-deficit/hyperactivity disorder

  2008cites this paper
• Sustained attention and response inhibition in boys with fragile X syndrome: Measures of continuous performance

  2007cites this paper
• [Encopresis].

  2007cites this paper
• [Mental health disorders among handicapped children and youth].

  2007cites this paper
• Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome.

  2007cites this paper
• Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

  2007cites this paper
• Prevalence of psychiatric disorders in 4 to 16‐year‐olds with Williams syndrome

  2006cites this paper
• ADHD symptoms in children with FXS

  2006cites this paper
• Kognitive- und Verhaltensphänotypen genetischer Syndrome Neuropsychologische Untersuchungen zum Apert-, Crouzon- und Fragilen-X-Syndrom sowie zum Mikrodeletionssyndrom 22q11

  2005cites this paper
• Attention deficit/hyperactivity disorder (ADHD): Complex phenotype, simple genotype?

  2004cites this paper
• Neuropsychiatric Symptoms of Fragile X Syndrome

  2004cites this paper
• Augmentation of Auditory N1 in Children with Fragile X Syndrome

  2004cites this paper
• Co–existing disorders in ADHD – implications for diagnosis and intervention

  2004cites this paper
• Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes

  2003cites this paper
• Is fragile X mental retardation protein involved in activity-induced plasticity of dendritic spines?

  2003cites this paper
• Verhaltensphänotyp des fragilen X-Syndroms

  2002cites this paper
• Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis.

  2002cites this paper
• Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest.

  2002cites this paper
• Further delineation of the executive deficit in males with fragile-X syndrome.

  2002cites this paper
• Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy.

  2002cites this paper
• FMR1 and the fragile X syndrome: Human genome epidemiology review

  2001cites this paper
• Pediatric Neuropsychological Intervention: Genetic syndromes associated with intellectual disability

  2001cites this paper
• Mental retardation

  2001cites this paper
• Fragile X syndrome (review).

  1999cites this paper
• The Application of Clinical Genetics Dovepress Emerging Pharmacologic Treatment Options for Fragile X Syndrome

  year unknowncites this paper