Works matching DE "FRAGILE X syndrome"
Results: 2154
Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.
- Published in:
- Radiologia Brasileira, 2024, v. 57, p. 1, doi. 10.1590/0100-3984.2024.0001
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- Publication type:
- Article
Systematic Review: Fragile X Syndrome Across the Lifespan with a Focus on Genetics, Neurodevelopmental, Behavioral and Psychiatric Associations.
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- Genes, 2025, v. 16, n. 2, p. 149, doi. 10.3390/genes16020149
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- Publication type:
- Article
Evidenz für die Erscheinungsbilder von Sensorischen Integrationsstörungen.
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- Ergotherapie & Rehabilitation, 2012, v. 51, n. 10, p. 24, doi. 10.2443/skv-s-2012-51020121004
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- Publication type:
- Article
FRAGILE X SYNDROME IS UNDERDIAGNOSED THROUGH CYTOGENETIC ANALYSIS ALONE: 6 YEARS OF HUSM EXPERIENCE.
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- Malaysian Journal of Medical Sciences, 2008, p. 29
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- Publication type:
- Article
CYTOGENETIC ANALYSIS AS A DIAGNOSTIC TEST FOR FR AGILE X SYNDROME: IS IT CONFIRMATORY?
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 89
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- Publication type:
- Article
Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
Incorporating FRAX into a nurse-delivered integrated care review: a multi-method qualitative study.
- Published in:
- BJGP Open, 2023, v. 7, n. 2, p. 1, doi. 10.3399/BJGPO.2022.0146
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- Publication type:
- Article
Role of genetics, environmental, and lifestyle factors responsible for infertility -- A review.
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- Fertility Science & Research, 2023, v. 10, n. 3, p. 131, doi. 10.4103/fsr.fsr_18_23
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- Publication type:
- Article
Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07120-6
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- Publication type:
- Article
Early communication development in infants and toddlers with Fragile X syndrome.
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- Autism & Developmental Language Impairments, 2022, v. 7, p. 1, doi. 10.1177/23969415221099403
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- Publication type:
- Article
Early communication development in infants and toddlers with Fragile X syndrome.
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- Autism & Developmental Language Impairments, 2022, v. 7, p. 1, doi. 10.1177/23969415221099403
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- Publication type:
- Article
Chromatinopathies – from discovery to clinical diagnosis in the real world.
- Published in:
- 2024
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- Publication type:
- Editorial
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
- Published in:
- Human Genetics, 2024, v. 143, n. 4, p. 607, doi. 10.1007/s00439-023-02537-1
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- Publication type:
- Article
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1279, doi. 10.1007/s00439-021-02400-1
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- Publication type:
- Article
ATR-X syndrome: genetics, clinical spectrum, and management.
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- Human Genetics, 2021, v. 140, n. 12, p. 1625, doi. 10.1007/s00439-021-02361-5
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- Publication type:
- Article
Study of telomere length in men who carry a fragile X premutation or full mutation allele.
- Published in:
- Human Genetics, 2020, v. 139, n. 12, p. 1531, doi. 10.1007/s00439-020-02194-8
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- Publication type:
- Article
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
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- Human Genetics, 2020, v. 139, n. 2, p. 227, doi. 10.1007/s00439-019-02104-7
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- Publication type:
- Article
Recent advances in assays for the fragile X-related disorders.
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- Human Genetics, 2017, v. 136, n. 10, p. 1313, doi. 10.1007/s00439-017-1840-5
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- Publication type:
- Article
Managing tremor in fragile X-associated tremor/ataxia syndrome with botulinum neurotoxin: report of a success.
- Published in:
- 2024
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- Publication type:
- Letter
Deep brain stimulation in Fragile X syndrome with tardive dystonia.
- Published in:
- 2021
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- Publication type:
- Letter
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Early abnormalities in 123I-ioflupane (DaTSCAN) imaging in the fragile X-associated tremor ataxia syndrome (FXTAS): a case report.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates.
- Published in:
- Collegium Antropologicum, 2011, v. 35, p. 327
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- Publication type:
- Article
Inhibition of GluN2A NMDA receptors ameliorates synaptic plasticity deficits in the Fmr1<sup>−/y</sup> mouse model.
- Published in:
- Journal of Physiology, 2018, v. 596, n. 20, p. 5017, doi. 10.1113/JP276304
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- Publication type:
- Article
Imbalance of synaptic actin dynamics as a key to fragile X syndrome?
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- Journal of Physiology, 2018, v. 596, n. 14, p. 2773, doi. 10.1113/JP275571
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- Publication type:
- Article
Fragile X mental retardation protein controls ion channel expression and activity.
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- Journal of Physiology, 2016, v. 594, n. 20, p. 5861, doi. 10.1113/JP270675
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- Publication type:
- Article
GABA<sub>B</sub> receptor-mediated feed-forward circuit dysfunction in the mouse model of fragile X syndrome.
- Published in:
- Journal of Physiology, 2015, v. 593, n. 22, p. 5009, doi. 10.1113/JP271190
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- Publication type:
- Article
Dampened dopamine-mediated neuromodulation in prefrontal cortex of fragile X mice.
- Published in:
- Journal of Physiology, 2013, v. 591, n. 4, p. 1133, doi. 10.1113/jphysiol.2012.241067
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- Publication type:
- Article
Homology modeling and molecular docking study of metabotropic glutamate receptor 5 variant F: an attempt to develop drugs for treating CNS diseases.
- Published in:
- Zeitschrift für Physikalische Chemie, 2024, v. 238, n. 8, p. 1551, doi. 10.1515/zpch-2023-0449
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- Publication type:
- Article
Pain in Patients with Intellectual Disability: Is It Adequately Addressed?
- Published in:
- 2024
- By:
- Publication type:
- Letter
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
- Published in:
- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
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- Publication type:
- Article
Fragile X and autism: treatments for hypersensitivity.
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- Learning Disability Practice, 2017, v. 20, n. 4, p. 11, doi. 10.7748/ldp.20.4.11.s11
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- Publication type:
- Article
Fragile X syndrome.
- Published in:
- 2015
- Publication type:
- Abstract
Understanding Fragile X Syndrome.
- Published in:
- 2012
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- Publication type:
- Book Review
Obtaining consent to help a young man with difficulties masturbating.
- Published in:
- Learning Disability Practice, 2011, v. 14, n. 6, p. 32, doi. 10.7748/ldp2011.07.14.6.32.c8620
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- Publication type:
- Article
Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4359308
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- Publication type:
- Article
BASES GENÉTICAS Y BIOLÓGICAS DEL SÍNDROME DE X FRÁGIL.
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- Ciencia en Desarrollo, 2012, v. 4, n. 1, p. 9
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- Publication type:
- Article
Evaluating the Value of Quadruple Thyroid Screening in the Diagnosis of Hypothyroidism among Premature Neonates in Tehran in 2019-2020.
- Published in:
- Iranian Journal of Neonatology, 2024, v. 15, n. 1, p. 21, doi. 10.22038/ijn.2023.69619.2347
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- Publication type:
- Article
Prevalence and implications of fragile X premutation screening in Thailand.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-77762-3
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- Publication type:
- Article
Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership in Fragile X Syndrome.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-72935-6
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- Publication type:
- Article
A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 9, p. 892, doi. 10.3390/brainsci14090892
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- Publication type:
- Article
Increased Inhibition May Contribute to Maintaining Normal Network Function in the Ventral Hippocampus of a Fmr1-Targeted Transgenic Rat Model of Fragile X Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 11, p. 1598, doi. 10.3390/brainsci13111598
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- Publication type:
- Article
"Corp-Osa-Mente", a Combined Psychosocial–Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 277, doi. 10.3390/brainsci13020277
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- Publication type:
- Article
Fragile X Syndrome: Recent Research Updates toward Capturing Treatments' Improvement in Clinical Trials.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 10, p. 1276, doi. 10.3390/brainsci12101276
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- Publication type:
- Article
Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1129, doi. 10.3390/brainsci12091129
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- Publication type:
- Article
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 5, p. 575, doi. 10.3390/brainsci12050575
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- Publication type:
- Article
Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 385, doi. 10.3390/brainsci12030385
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- Publication type:
- Article
Genetics and Clinical Neuroscience in Intellectual Disability.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 338, doi. 10.3390/brainsci12030338
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- Publication type:
- Article
Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 314, doi. 10.3390/brainsci12030314
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- Publication type:
- Article
Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 8, doi. 10.3390/brainsci12010008
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- Publication type:
- Article