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Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
- Published in:
- Nutrients, 2020, v. 12, n. 10, p. 3136, doi. 10.3390/nu12103136
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- Publication type:
- Article
Fragile X-associated tremor ataxia syndrome and cognitive impairment.
- Published in:
- Australian & New Zealand Journal of Psychiatry, 2019, v. 53, n. 4, p. 370, doi. 10.1177/0004867418814942
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- Publication type:
- Article
Enacting genetic responsibility: experiences of mothers who carry the fragile X gene.
- Published in:
- 2011
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- Publication type:
- Journal Article
Relationships Between Early Gestures and Later Language in Children With Fragile X Syndrome.
- Published in:
- American Journal of Speech-Language Pathology, 2010, v. 19, n. 2, p. 135, doi. 10.1044/1058-0360(2009/09-0018)
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- Publication type:
- Article
Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 85, doi. 10.1002/jgc4.1355
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- Publication type:
- Article
A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 3, p. 501, doi. 10.1007/s10897-016-0005-3
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- Publication type:
- Article
Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 752, doi. 10.1007/s10897-012-9524-8
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- Publication type:
- Article
Diagnosis of Fragile X Syndrome: A Qualitative Study of African American Families.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 845, doi. 10.1007/s10897-011-9454-x
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- Publication type:
- Article
The FXG: A Presynaptic Fragile X Granule Expressed in a Subset of Developing Brain Circuits.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 5, p. 1514, doi. 10.1523/JNEUROSCI.3937-08.2009
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- Publication type:
- Article
Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
- Published in:
- 2016
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- Publication type:
- journal article
CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A new diagnostic algorithm for an early diagnosis of patients with fragile X syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?
- Published in:
- 2021
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- Publication type:
- journal article
The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.
- Published in:
- 2017
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- Publication type:
- journal article
Neural Dynamics of Autistic Repetitive Behaviors and Fragile X Syndrome: Basal Ganglia Movement Gating and mGluR-Modulated Adaptively Timed Learning.
- Published in:
- Frontiers in Psychology, 2018, p. 1, doi. 10.3389/fpsyg.2018.00269
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- Publication type:
- Article
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
- Published in:
- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 4828, doi. 10.1007/s10803-021-05337-6
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- Publication type:
- Article
Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome: Developmental Trajectories in Toddlers Through Young Adults.
- Published in:
- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 11, p. 3957, doi. 10.1007/s10803-020-04459-7
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- Publication type:
- Article
The Persistence of Self-injurious and Aggressive Behavior in Males with Fragile X Syndrome Over 8 Years: A Longitudinal Study of Prevalence and Predictive Risk Markers.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 7, p. 2913, doi. 10.1007/s10803-019-04002-3
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- Publication type:
- Article
Using Discrete Trial Training to Identify Specific Learning Impairments in Boys with Fragile X Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 2014, v. 44, n. 7, p. 1659, doi. 10.1007/s10803-014-2037-6
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- Publication type:
- Article
Diagnostic Validity of Sensory Over-Responsivity: A Review of the Literature and Case Reports.
- Published in:
- Journal of Autism & Developmental Disorders, 2008, v. 38, n. 3, p. 516, doi. 10.1007/s10803-007-0418-9
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- Publication type:
- Article
Fragile X Premutation in Adult Psychiatry: Four Cases and Overview of Clinical Presentation.
- Published in:
- Turk Psikiyatri Dergisi, 2013, v. 24, n. 1, p. 55
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- Publication type:
- Article
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Síndrome de X Frágil en niños.
- Published in:
- Colombia Medica, 2023, v. 54, n. 2, p. 1, doi. 10.25100/cm.v54i2.5089
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- Publication type:
- Article
Tremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Fragile X Syndrome.
- Published in:
- Colombia Medica, 2014, v. 45, n. 4, p. 190, doi. 10.25100/cm.v45i4.1810
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- Publication type:
- Article
USING PERCENTILE SCHEDULES TO INCREASE EYE CONTACT IN CHILDREN WITH FRAGILE X SYNDROME.
- Published in:
- Journal of Applied Behavior Analysis, 2009, v. 42, n. 1, p. 171, doi. 10.1901/jaba.2009.42-171
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- Publication type:
- Article
Case 2: An 11-year-old girl with aggressive behaviour and intellectual impairment.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Fragile X syndrome: Are paediatric health care providers missing the diagnosis?
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Fragile X syndrome: a review of clinical and molecular diagnoses.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0355-y
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- Publication type:
- Article
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0394-8
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- Publication type:
- Article
The impact of FMR1 gene mutations on human reproduction and development: a systematic review.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 9, p. 1135, doi. 10.1007/s10815-016-0765-6
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- Publication type:
- Article
AMH in women with diminished ovarian reserve: potential differences by FMR1 CGG repeat level.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 10, p. 1295, doi. 10.1007/s10815-014-0276-2
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- Publication type:
- Article
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.
- Published in:
- Genes, 2016, v. 7, n. 10, p. 90, doi. 10.3390/genes7100090
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- Publication type:
- Article
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.
- Published in:
- Genes, 2016, v. 7, n. 10, p. 87, doi. 10.3390/genes7100087
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- Publication type:
- Article
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
- Published in:
- Genes, 2016, v. 7, n. 9, p. 68, doi. 10.3390/genes7090068
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- Publication type:
- Article
Towards a Better Molecular Diagnosis of FMR1-Related Disorders--A Multiyear Experience from a Reference Lab.
- Published in:
- Genes, 2016, v. 7, n. 9, p. 59, doi. 10.3390/genes7090059
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- Publication type:
- Article
Fragile X syndrome. Improving understanding and diagnosis.
- Published in:
- 1994
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- Publication type:
- commentary
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
- Published in:
- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 13, p. 1569, doi. 10.1001/jama.1993.03510130075034
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- Publication type:
- Article
Clinical implication of FMR1 intermediate alleles in a Spanish population.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 153, doi. 10.1111/cge.13257
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- Publication type:
- Article
Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 41, p. 13836, doi. 10.1523/JNEUROSCI.2656-15.2015
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- Publication type:
- Article
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Psychiatric-legal aspects in the oncological pathology.
- Published in:
- Oncolog-Hematolog, 2018, n. 43, p. 31
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- Publication type:
- Article
Method for the molecular cytogenetic visualization of fragile site FRAXA.
- Published in:
- Molecular Biology, 2017, v. 51, n. 4, p. 621, doi. 10.1134/S0026893317040069
- By:
- Publication type:
- Article
Development of a fragile X syndrome ( FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.
- Published in:
- Health Expectations, 2015, v. 18, n. 1, p. 69, doi. 10.1111/hex.12009
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre.
- Published in:
- 2002
- By:
- Publication type:
- journal article
The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Fragile X syndrome: Is now the time for population screening?
- Published in:
- Medical Laboratory Observer (MLO), 2010, v. 42, n. 5, p. 20
- By:
- Publication type:
- Article
Genetic testing of aetiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability.
- Published in:
- Internal Medicine Journal, 2016, v. 46, n. 2, p. 177, doi. 10.1111/imj.12946
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- Publication type:
- Article