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A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The first case of the FRAXE form of inherited mental retardation in Croatia.
- Published in:
- 2002
- By:
- Publication type:
- Case Study
Short Report Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 4, p. 278, doi. 10.1111/j.1399-0004.2004.00228.x
- By:
- Publication type:
- Article
Dysregulation of FMRP/mTOR Signaling Cascade in Hypoxic-Ischemic Injury of Premature Human Brain.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 4, p. 426, doi. 10.1177/0883073815596617
- By:
- 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
- By:
- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: cognitive presentations.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/965839
- By:
- Publication type:
- Article
Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486
- By:
- Publication type:
- Article
Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122213
- By:
- Publication type:
- Article
Fragile X Syndrome: A Review for General Pediatricians.
- Published in:
- Pediatric Annals, 2024, v. 53, n. 7, p. e269, doi. 10.3928/19382359-20240502-08
- By:
- Publication type:
- Article
Estrategia de genotipado del gen FMR1: Mtodo de diagn¢stico alternativo para el S¡ndrome X Frgil y otras enfermedades por expansi¢n de trinucleotidos.
- Published in:
- Revista Medica Herediana, 2013, v. 24, n. 4, p. 269, doi. 10.20453/rmh.2013.269
- By:
- Publication type:
- Article
Apuntes sobre el S¡ndrome de X-Frgil.
- Published in:
- Revista Medica Herediana, 2013, v. 24, n. 4, p. 267, doi. 10.20453/rmh.v24i4.268
- By:
- Publication type:
- Article
Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
- Published in:
- JAMA Network Open, 2021, v. 4, n. 12, p. e2141516, doi. 10.1001/jamanetworkopen.2021.41516
- 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
- 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
Fragile X carrier screening in Korean women of reproductive age.
- Published in:
- Journal of Medical Screening, 2013, v. 20, n. 1, p. 15, doi. 10.1177/0969141313488364
- By:
- Publication type:
- Article
Three peaks in the polymerase chain reaction fragile X analysis.
- Published in:
- Journal of Medical Screening, 2012, v. 19, n. 3, p. 112, doi. 10.1258/jms.2012.012029
- By:
- 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
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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Síndrome de X Frágil en niños.
- Published in:
- Colombia Medica, 2023, v. 54, n. 2, p. 1, doi. 10.25100/cm.v54i2.5089
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- journal article
The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X.
- Published in:
- American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 4, p. 284, doi. 10.1352/1944-7558-188.4.284
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI).
- Published in:
- Apollo Medicine, 2023, v. 20, p. S62, doi. 10.4103/am.am_67_23
- By:
- Publication type:
- Article
Fragile X syndrome. Improving understanding and diagnosis.
- Published in:
- 1994
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Enacting genetic responsibility: experiences of mothers who carry the fragile X gene.
- Published in:
- 2011
- By:
- Publication type:
- Journal 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
- By:
- 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
- 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