Works matching DE "DIAGNOSIS of fragile X syndrome"
Results: 90
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Genetic upregulation of BK channel activity normalizes multiple synaptic and circuit defects in a mouse model of fragile X syndrome.
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- Journal of Physiology, 2016, v. 594, n. 1, p. 83, doi. 10.1113/JP271031
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- Publication type:
- Article
Pilot Evaluation of the Biopsychosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX) with an Extended African American Family.
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- Journal of Theory Construction & Testing, 2012, v. 16, n. 1, p. 22
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: cognitive presentations.
- Published in:
- 2017
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- Publication type:
- Case Study
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
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
- Published in:
- 2022
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- Publication type:
- journal article
A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells.
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- Journal of Cell Biology, 2017, v. 216, n. 3, p. 595, doi. 10.1083/jcb.201607093
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- Publication type:
- Article
Neural Dynamics of Autistic Repetitive Behaviors and Fragile X Syndrome: Basal Ganglia Movement Gating and mGluR-Modulated Adaptively Timed Learning.
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- Frontiers in Psychology, 2018, p. 1, doi. 10.3389/fpsyg.2018.00269
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- Publication type:
- Article
Effect of Recurrent Otitis Media on Language Profile in Children with Fragile X Syndrome.
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- Clinical Medicine Insights: Ear, Nose & Throat, 2013, n. 6, p. 1, doi. 10.4137/CMENT.S11157
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- Publication type:
- Article
Síndrome de X Frágil en niños.
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- 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.
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- 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
Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective.
- Published in:
- 2016
- By:
- Publication type:
- journal 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
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 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
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
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
Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/965839
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- Publication type:
- Article
Mothers' perspectives on challenging behaviours in their children with fragile X syndrome.
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- Journal of Intellectual & Developmental Disability, 2019, v. 44, n. 4, p. 481, doi. 10.3109/13668250.2018.1496379
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- Publication type:
- Article
French translation and validation of a fragile X syndrome screening checklist.
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- Journal of Intellectual & Developmental Disability, 2019, v. 44, n. 1, p. 92, doi. 10.3109/13668250.2017.1310807
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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
Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145537
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- 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
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- 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
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- Publication type:
- Article
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
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- Australian Journal of Primary Health, 2022, v. 28, n. 6, p. 580, doi. 10.1071/PY21247
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- Publication type:
- Article
Epidemiology and economic burden of fragility fractures in Austria.
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- Osteoporosis International, 2022, v. 33, n. 3, p. 637, doi. 10.1007/s00198-021-06152-6
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- Publication type:
- Article
Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
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- JAMA Network Open, 2021, v. 4, n. 12, p. e2141516, doi. 10.1001/jamanetworkopen.2021.41516
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- Publication type:
- Article
Psychiatric-legal aspects in the oncological pathology.
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- Oncolog-Hematolog, 2018, n. 43, p. 31
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 849, doi. 10.1080/13854046.2016.1202239
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- Publication type:
- Article
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor–ataxia syndrome: implications for neuropsychology.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 913, doi. 10.1080/13854046.2016.1192134
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 810, doi. 10.1080/13854046.2016.1186661
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- Publication type:
- Article
Clinically significant psychiatric symptoms among male carriers of the fragile X premutation, with and without FXTAS, and the mediating influence of executive functioning.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 944, doi. 10.1080/13854046.2016.1185100
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- Publication type:
- Article
The fragile X mental retardation 1 gene ( FMR1 ): historical perspective, phenotypes, mechanism, pathology, and epidemiology.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 815, doi. 10.1080/13854046.2016.1184652
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- Publication type:
- Article
Fragile X tremor ataxia syndrome and white matter dementia.
- Published in:
- Clinical Neuropsychologist, 2016, v. 30, n. 6, p. 901, doi. 10.1080/13854046.2016.1165805
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- 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
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- Publication type:
- Article
Three peaks in the polymerase chain reaction fragile X analysis.
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- Journal of Medical Screening, 2012, v. 19, n. 3, p. 112, doi. 10.1258/jms.2012.012029
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- 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
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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
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
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- 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
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- Publication type:
- Article
The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.
- Published in:
- Journal of Neural Transmission, 2014, v. 121, n. 8, p. 891, doi. 10.1007/s00702-014-1216-0
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- 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
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- 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
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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