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1. Fragile X syndrome
: diagnosis, treatment, and research
by Hagerman, Randi Jenssen and Hagerman, Paul J
2002, 3rd ed., ISBN 0801868432, xii, 540
Fragile X syndrome
Book
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2. Fragile X syndrome
: diagnosis, treatment, and research
by Hagerman, Randi Jenssen and Cronister, Amy
1996, 2nd ed., ISBN 0801853478, xiii, 481
Fragile X syndrome
Book
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3. Fragile X syndrome
: diagnosis, treatment, and research
by Hagerman, Randi Jenssen, 1949 and Cronister, Amy, 1957
1991, Johns Hopkins series in contemporary medicine and public health., ISBN 9780801841699, xiv, 378
Fragile X Syndrome
Book
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4. The Fragile X syndrome
: diagnosis, biochemistry, and intervention
by Hagerman, Randi Jenssen, 1949 and McBogg, Pamela McKenzie, 1940
1983, ISBN 9780915667017, xiv, 239
Familial and genetic | Fragile X syndrome | Sex chromosome abnormalities | Mental retardation
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5. Full Text Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics
by Bagni, Claudia and Tassone, Flora and Neri, Giovanni and Hagerman, Randi
Journal of Clinical Investigation, ISSN 0021-9738, 12/2012, Volume 122, Issue 12, pp. 4314 - 4322
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS... 
MEDICINE, RESEARCH & EXPERIMENTAL | MESSENGER-RNAS | FULL MUTATION | SYNDROME MOUSE MODEL | AUTISM SPECTRUM DISORDER | VALPROIC ACID | LONG-TERM POTENTIATION | EXPANDED ALLELES | MENTAL-RETARDATION PROTEIN | FMR1 GENE | DNA DEMETHYLATION | Autistic Disorder - genetics | Fragile X Syndrome - genetics | Fragile X Syndrome - therapy | Animals | Epigenesis, Genetic | Humans | Fragile X Syndrome - metabolism | Fragile X Mental Retardation Protein - genetics | Molecular Targeted Therapy | Early Diagnosis | Synaptic Transmission | Fragile X Syndrome - diagnosis | Care and treatment | Fragile X syndrome | Diagnosis | Science in Medicine
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6. Full Text Fragile X–associated tremor/ataxia syndrome
by Hagerman, Paul J and Hagerman, Randi J
Annals of the New York Academy of Sciences, ISSN 0077-8923, 03/2015, Volume 1338, Issue 1, pp. 58 - 70
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder that affects some but not all carriers of small, noncoding... 
neurodegeneration | dementia | RNA toxicity | CGG repeat | premutation | FXTAS | Premutation | Neurodegeneration | Dementia | RNA-MEDIATED NEURODEGENERATION | SYNDROME FXTAS | PSYCHIATRY | PUR-ALPHA BINDS | R-LOOP FORMATION | CLINICAL NEUROLOGY | FULL MUTATION | TREMOR ATAXIA SYNDROME | C-ELEGANS | PLACEBO-CONTROLLED TRIAL | MICROSATELLITE EXPANSION DISORDERS | FMR1 PREMUTATION ALLELES | Fragile X Syndrome - genetics | Trinucleotide Repeats | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Fragile X Syndrome - therapy | Fragile X Syndrome - physiopathology | Humans | Tremor - diagnosis | Tremor - physiopathology | Ataxia - diagnosis | Animals | Tremor - genetics | Fragile X Mental Retardation Protein - genetics | Tremor - therapy | Ataxia - genetics | Nematoda | Disease Models, Animal | Fragile X Syndrome - diagnosis | Tremor | Genetic engineering | Medical research | Pathogenesis | Ataxia | Index Medicus | Genes | Central nervous system | Disorders | Constants | Tremors | Delay
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7. Full Text Fragile X syndrome: A review of associated medical problems
by Kidd, Sharon A and Lachiewicz, Ave and Barbouth, Deborah and Blitz, Robin K and Delahunty, Carol and McBrien, Dianne and Visootsak, Jeannie and Berry-Kravis, Elizabeth
Pediatrics, ISSN 0031-4005, 11/2014, Volume 134, Issue 5, pp. 995 - 1005
Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism... 
Sleep | Strabismus | Growth | Otitis media | Fragile X syndrome | Review | Gastrointestinal | Seizures | PARENT SURVEY | MENTAL-RETARDATION | otitis media | fragile X syndrome | STATUS EPILEPTICUS | MITRAL-VALVE-PROLAPSE | gastrointestinal | sleep | INTELLECTUAL DISABILITY | RECURRENT OTITIS-MEDIA | PRESCHOOL-AGE CHILDREN | strabismus | review | MARTIN-BELL SYNDROME | seizures | TYPICAL DEVELOPMENT | PEDIATRICS | growth | SLEEP PROBLEMS | Child Development Disorders, Pervasive - epidemiology | Gastrointestinal Diseases - epidemiology | Gastrointestinal Diseases - psychology | Humans | Seizures - diagnosis | Gastrointestinal Diseases - diagnosis | Nervous System Malformations - epidemiology | Heart Diseases - diagnosis | Heart Diseases - psychology | Child Development Disorders, Pervasive - psychology | Heart Diseases - epidemiology | Fragile X Syndrome - psychology | Seizures - epidemiology | Child Development Disorders, Pervasive - diagnosis | Nervous System Malformations - diagnosis | Quality of Life - psychology | Nervous System Malformations - psychology | Fragile X Syndrome - diagnosis | Fragile X Syndrome - epidemiology | Seizures - psychology | Complications and side effects | Care and treatment | Gastrointestinal diseases | Diagnosis | Risk factors | Autism | Pediatrics | Genetic disorders | Data collection | Systematic review | Sampling | Children & youth
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8. Full Text Autism Spectrum Disorders and Epigenetics
by Grafodatskaya, Daria, Ph.D and Chung, Brian, M.B.B.S and Szatmari, Peter, M.D and Weksberg, Rosanna, M.D., Ph.D
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2010, Volume 49, Issue 8, pp. 794 - 809
Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors.... 
Pediatrics | Psychiatry | autism spectrum disorders | epigenetics | genetics | GENOTYPE-PHENOTYPE CORRELATIONS | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | NEUROTROPHIC FACTOR BDNF | CHINESE HAN POPULATION | SEROTONIN TRANSPORTER GENE | PERVASIVE DEVELOPMENTAL DISORDERS | BECKWITH-WIEDEMANN-SYNDROME | FRAGILE-X-SYNDROME | PEDIATRICS | IN-VITRO FERTILIZATION | SYNDROME CRITICAL REGION | PRADER-WILLI-SYNDROME | Autism | Etiology | Pervasive Developmental Disorders | Mental Retardation | Evidence | Genetics | Environmental Influences | Cognitive Development | Symptoms (Individual Disorders) | Megalencephaly - psychology | Angelman Syndrome - psychology | Humans | Rett Syndrome - psychology | Angelman Syndrome - diagnosis | Social Environment | CHARGE Syndrome - psychology | Turner Syndrome - diagnosis | Prader-Willi Syndrome - psychology | Child Development Disorders, Pervasive - diagnosis | Angelman Syndrome - genetics | Prader-Willi Syndrome - genetics | Child | Fragile X Syndrome - genetics | Genetic Predisposition to Disease - psychology | Megalencephaly - genetics | Prader-Willi Syndrome - diagnosis | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Rett Syndrome - diagnosis | Comorbidity | Risk Factors | CHARGE Syndrome - diagnosis | Chromosomes, Human, Pair 15 - genetics | Megalencephaly - diagnosis | Child Development Disorders, Pervasive - psychology | Child Development Disorders, Pervasive - genetics | Epigenesis, Genetic - genetics | Fragile X Syndrome - psychology | Adolescent | Turner Syndrome - genetics | CHARGE Syndrome - genetics | Rett Syndrome - genetics | Fragile X Syndrome - diagnosis | Psychological aspects | Epigenetic inheritance | Genetic aspects | Epigenetics | Child psychology | Gene expression | Genomics | Deoxyribonucleic acid--DNA
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9. A pilot study on assessment of triplet repeat primed pcr for fragile x syndrome diagnosis
by Muthuswamy, Srinivasan and Dean, Deepika D and Agarwal, Sarita
SpringerBriefs in Applied Sciences and Technology, ISSN 2191-530X, 2016, Volume 7, pp. 91 - 96
Triplet repeat primed PCR | Fragile X syndrome | Developmental delay | Mental retardation
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10. Full Text Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome
by Gabis, Lidia V and Hochberg, Oded and Leon Attia, Odelia and Banet-Levi, Yonit and Topf, Dana and Shefer, Shahar
The Journal of Pediatrics, ISSN 0022-3476, 02/2018, Volume 193, pp. 217 - 221.e1
To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), with an emphasis on the time lag between initial... 
genetics | global developmental delay | FMR1 | autism | DEVELOPMENTAL DELAYS | ISRAEL | PEDIATRICS | CHILDREN | Autism | Fragile X syndrome
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11. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
by Bagni, Claudia and Tassone, Flora and Neri, Giovanni and Hagerman, Randi
Journal of Clinical Investigation, ISSN 0021-9738, 12/2012, Volume 122, Issue 12, pp. 4314 - 4314
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS... 
Brain | Mental disorders | Spine | Cognitive ability | mRNA | Fragile X syndrome | fragile X mental retardation protein | Metabolism | Mental retardation | Quality of life
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12. Full Text Advances in the Treatment of Fragile X Syndrome
by Hagerman, Randi J and Berry-Kravis, Elizabeth and Kaufmann, Walter E and Ono, Michele Y and Tartaglia, Nicole and Lachiewicz, Ave and Kronk, Rebecca and Delahunty, Carol and Hessl, David and Visootsak, Jeannie and Picker, Jonathan and Gane, Louise and Tranfaglia, Michael
Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 378 - 390
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other... 
Fenobam | Fragile x mental retardation protein | Fragile x syndrome, autism, behavioral interventions | Targeted treatments | DEFICIT HYPERACTIVITY DISORDER | fragile X syndrome | targeted treatments | behavioral interventions | autism | PERVASIVE DEVELOPMENTAL DISORDERS | AUTISTIC SPECTRUM DISORDERS | SEROTONIN REUPTAKE INHIBITORS | MGLU5 RECEPTOR ANTAGONIST | MOUSE MODEL | ATTENTION-DEFICIT | fenobam | PEDIATRICS | WILLI-LIKE PHENOTYPE | fragile X mental retardation protein | FMR1 MESSENGER-RNA | MENTAL-RETARDATION PROTEIN | Fragile X Syndrome - genetics | Excitatory Amino Acid Antagonists - therapeutic use | Fragile X Syndrome - therapy | Animals | Humans | Genetic Therapy - trends | Mutation - genetics | Fragile X Syndrome - diagnosis | Care and treatment | Genetic aspects | Fragile X syndrome | Demographic aspects | Proteins | Pediatrics | Genetic disorders | Cognition & reasoning | Genes | Families & family life | Mutation
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13. Full Text Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
by Coffee, Bradford and Keith, Krayton and Albizua, Igor and Malone, Tamika and Mowrey, Julie and Sherman, Stephanie L and Warren, Stephen T
The American Journal of Human Genetics, ISSN 0002-9297, 2009, Volume 85, Issue 4, pp. 503 - 514
Fragile X syndrome (FXS) results from a CGG-repeat expansion that triggers hypermethylation and silencing of the gene. FXS is referred to as the most common... 
CHROMOSOME-ABNORMALITIES | DIAGNOSIS | CYTOGENETIC SURVEY | GENE | KLINEFELTER-SYNDROME | FAMILY EXPERIENCES | CGG REPEAT | GENETICS & HEREDITY | PREVALENCE | IDENTIFICATION | CHILDREN | Fragile X Syndrome - genetics | Promoter Regions, Genetic | Humans | Molecular Sequence Data | Male | Neonatal Screening - methods | DNA - metabolism | DNA Primers - chemistry | Sequence Homology, Nucleic Acid | Klinefelter Syndrome - genetics | DNA Methylation | DNA Mutational Analysis | Base Sequence | Sensitivity and Specificity | Klinefelter Syndrome - diagnosis | Fragile X Mental Retardation Protein - genetics | Infant, Newborn | Fragile X Syndrome - diagnosis | Fragile X Syndrome - epidemiology | Polymerase chain reaction | Usage | Gene mutations | DNA | Analysis | Chemical properties | Fragile X syndrome | Research | Methylation
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14. Full Text Autism in Fragile X Syndrome: A Category Mistake?
by Hall, Scott S., Ph.D and Lightbody, Amy A., Ph.D and Hirt, Melissa, M.A and Rezvani, Ava, H.S and Reiss, Allan L., M.D
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2010, Volume 49, Issue 9, pp. 921 - 933
Objective Many investigators now routinely classify children with fragile X syndrome (FXS) according to whether or not they also meet diagnostic criteria for... 
Pediatrics | Psychiatry | autistic behaviors | FMRP | autism | fragile X syndrome | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | IQ | SPECTRUM DISORDERS | IDIOPATHIC AUTISM | DIAGNOSTIC OBSERVATION SCHEDULE | SOCIAL-BEHAVIOR | ADOLESCENTS | EYE CONTACT | PEDIATRICS | MALES | YOUNG-CHILDREN | COMMUNICATION | DEVELOPMENTAL DISORDERS | Intelligence Quotient | Congenital Impairments | Young Adults | Mental Retardation | Genetic Disorders | Autism Diagnostic Observation Schedule | Interpersonal Relationship | Autism | Gender Differences | Classification | Profiles | Children | Adolescents | Child Development Disorders, Pervasive - classification | Diagnosis, Differential | Intelligence | Comorbidity | Humans | Child, Preschool | Male | Psychometrics | Fragile X Syndrome - classification | Young Adult | Personality Assessment - statistics & numerical data | Child Development Disorders, Pervasive - psychology | Social Behavior | Fragile X Syndrome - psychology | Stereotyped Behavior | Adolescent | Child Development Disorders, Pervasive - diagnosis | Sex Factors | Checklist | Female | Child | Communication | Fragile X Syndrome - diagnosis | Complications and side effects | Fragile X syndrome | Risk factors | Genetic disorders | Social interaction | Child psychology | Regression analysis | Medical diagnosis | Children & youth
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