Works matching DE "FRAGILE X syndrome"
Results: 2134
Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.
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- Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 226, doi. 10.1038/nsmb.1527
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- Publication type:
- Article
Cancer risk in individuals with intellectual disability in Sweden: A population-based cohort study.
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- 2021
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- Publication type:
- journal article
Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.
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- Revista Mexicana de Neurociencia, 2022, v. 23, n. 2, p. 51, doi. 10.24875/RMN.21000044
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- Article
Nonmalignant Diseases and Treatments Associated with Primary Ovarian Failure: An Expanded Role for Fertility Preservation.
- Published in:
- 2011
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- Publication type:
- Journal Article
Innovations in EP: the thin line between taking chances and taking (unknown) risks—a patient's perspective.
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- Journal of Interventional Cardiac Electrophysiology, 2023, v. 66, n. 4, p. 831, doi. 10.1007/s10840-022-01380-0
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- Publication type:
- Article
Characterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia.
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- Calcified Tissue International, 2021, v. 109, n. 2, p. 132, doi. 10.1007/s00223-021-00841-4
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- Publication type:
- Article
Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.
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- Archives of Gynecology & Obstetrics, 2014, v. 289, n. 6, p. 1255, doi. 10.1007/s00404-014-3145-4
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- Publication type:
- Article
Intellectual disability: dendritic anomalies and emerging genetic perspectives.
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- Acta Neuropathologica, 2021, v. 141, n. 2, p. 139, doi. 10.1007/s00401-020-02244-5
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- Article
Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson's disease.
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- Acta Neuropathologica, 2020, v. 139, n. 2, p. 319, doi. 10.1007/s00401-019-02099-5
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- Publication type:
- Article
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP.
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- Acta Neuropathologica, 2016, v. 132, n. 5, p. 721, doi. 10.1007/s00401-016-1603-8
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- Publication type:
- Article
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.
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- Acta Neuropathologica, 2013, v. 126, n. 1, p. 1, doi. 10.1007/s00401-013-1138-1
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- Publication type:
- Article
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
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- Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9
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- Publication type:
- Article
Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain.
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- Nature, 2014, v. 511, n. 7511, p. 557, doi. 10.1038/nature13396
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- Article
Adulthood: Life lessons.
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- Nature, 2012, v. 491, n. 7422, p. S10, doi. 10.1038/491S10a
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- Publication type:
- Article
Treatments: In the waiting room.
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- Nature, 2012, v. 491, n. 7422, p. S14, doi. 10.1038/491S14a
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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
Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.
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- Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1863, doi. 10.55730/1300-0144.5533
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- Publication type:
- Article
Early Social Enrichment Rescues Adult Behavioral and Brain Abnormalities in a Mouse Model of Fragile X Syndrome.
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- Neuropsychopharmacology, 2015, v. 40, n. 5, p. 1113, doi. 10.1038/npp.2014.291
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- Publication type:
- Article
Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice.
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- Neuropsychopharmacology, 2014, v. 39, n. 13, p. 3100, doi. 10.1038/npp.2014.167
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- Publication type:
- Article
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study.
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- Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2760, doi. 10.1038/npp.2014.122
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- Publication type:
- Article
Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond.
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- Neuropsychopharmacology, 2012, v. 37, n. 1, p. 178, doi. 10.1038/npp.2011.137
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- Publication type:
- Article
α-Tocopherol Protects Against Oxidative Stress in the Fragile X Knockout Mouse: an Experimental Therapeutic Approach for the Fmr1 Deficiency.
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- Neuropsychopharmacology, 2009, v. 34, n. 4, p. 1011, doi. 10.1038/npp.2008.152
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- Publication type:
- Article
Pain and gain of predictive genetic testing: Particular case of fragile X syndrome.
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- 2024
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- Publication type:
- Abstract
How genetics can help diagnosis and treatment in psychiatric conditions.
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- European Psychiatry, 2021, v. 64, p. S49, doi. 10.1192/j.eurpsy.2021.156
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- Publication type:
- Article
P-1250 - Is this really schizofrenia?
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- 2012
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- Publication type:
- Abstract
Fragile phagocytes: FMRP positively regulates engulfment activity.
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- Journal of Cell Biology, 2017, v. 216, n. 3, p. 531, doi. 10.1083/jcb.201702034
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- Publication type:
- Article
Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.
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- Journal of Cell Biology, 2014, v. 206, n. 5, p. 599, doi. 10.1083/jcb.201404157
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- Article
In This Issue.
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- Journal of Cell Biology, 2014, v. 206, n. 5, p. 574, doi. 10.1083/jcb.201405009
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- Article
Children's Participation in Genetic Prevalence Research: Influences on Enrollment and Reports of Parent Satisfaction.
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- Journal of Applied Social Psychology, 1999, v. 29, n. 11, p. 2308, doi. 10.1111/j.1559-1816.1999.tb00112.x
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- Publication type:
- Article
Cerebellar Disorders in Childhood: Cognitive Problems.
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- Cerebellum, 2008, v. 7, n. 4, p. 607, doi. 10.1007/s12311-008-0083-3
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- Publication type:
- Article
Spontaneous motor-behavior abnormalities in two Drosophila models of neurodevelopmental disorders.
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- Journal of Neurogenetics, 2021, v. 35, n. 1, p. 1, doi. 10.1080/01677063.2020.1833005
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- 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
FMRP-dependent production of large dosage-sensitive proteins is highly conserved.
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- Genetics, 2022, v. 221, n. 4, p. 1, doi. 10.1093/genetics/iyac094
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- Publication type:
- Article
The polyG diseases: a new disease entity.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01383-y
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- Publication type:
- Article
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01201-x
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- Publication type:
- Article
BRAK. EDUKACJA W ZAMĘTACH I ODMĘTACH.
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- Ogrody Nauk i Sztuk, 2021, v. 11, n. 11, p. 7, doi. 10.15503/onis2021.7.12
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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.
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- Zeitschrift für Physikalische Chemie, 2024, v. 238, n. 8, p. 1551, doi. 10.1515/zpch-2023-0449
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- Article
Theses abstracts.
- Published in:
- 2000
- Publication type:
- Abstract
Evaluating the Value of Quadruple Thyroid Screening in the Diagnosis of Hypothyroidism among Premature Neonates in Tehran in 2019-2020.
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- 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
A Two-Hit Approach Inducing Flurothyl Seizures in Fmr1 Knockout Mice Impacts Anxiety and Repetitive Behaviors.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 8, doi. 10.3390/brainsci12010008
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- Publication type:
- Article
Sex Differences in Dopamine Receptor Signaling in Fmr1 Knockout Mice: A Pilot Study.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 11, p. 1398, doi. 10.3390/brainsci11111398
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- Publication type:
- Article