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1دورية أكاديمية
المؤلفون: Hwang, Ye Hyun, Hayward, Bruce Eliot, Zafarullah, Marwa, Kumar, Jay, Durbin Johnson, Blythe, Holmans, Peter, Usdin, Karen, Tassone, Flora
المصدر: Scientific Reports. 12(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Mental Health, Brain Disorders, Pediatric, Fragile X Syndrome, Rare Diseases, Intellectual and Developmental Disabilities (IDD), 5' Untranslated Regions, Alleles, Ataxia, Child, Female, Fragile X Mental Retardation Protein, Humans, Intellectual Disability, Mutation, Trans-Activators, Tremor, Trinucleotide Repeat Expansion
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/14g1j6dxTest
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2دورية أكاديمية
المؤلفون: Cabal-Herrera, Ana Maria, Tassanakijpanich, Nattaporn, Salcedo-Arellano, Maria Jimena, Hagerman, Randi J
المصدر: International Journal of Molecular Sciences. 21(12)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Medicinal and Biomolecular Chemistry, Chemical Sciences, Microbiology, Neurosciences, Genetics, Brain Disorders, Neurodegenerative, Clinical Research, Behavioral and Social Science, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Age of Onset, Ataxia, Atrophy, Early Diagnosis, Female, Fragile X Mental Retardation Protein, Humans, Magnetic Resonance Imaging, Male, Mutation, Sex Characteristics, Tremor, Trinucleotide Repeat Expansion, fragile X-associated tremor, ataxia syndrome, FMR1, premutation, FMRP, ataxia, tremor, neuroradiology, neurodegeneration, fragile X-associated tremor/ataxia syndrome, Other Chemical Sciences, Other Biological Sciences, Chemical Physics, Biochemistry and cell biology, Medicinal and biomolecular chemistry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1xp7186zTest
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3دورية أكاديمية
المؤلفون: WAN Ya⁃lan, JIANG Yan⁃yan, ZHOU Hong, ZHENG Yi⁃ming, LÜ He, ZHAO Gui⁃ping, CHEN Jing, SUN Wei, WANG Zhao⁃xia
المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 22, Iss 08, Pp 723-728 (2022)
مصطلحات موضوعية: spinocerebellar ataxias, parkinsonian disorders, genes, mutation, trinucleotide repeat expansion, pedigree, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://www.cjcnn.org/index.php/cjcnn/article/view/2553Test; https://doaj.org/toc/1672-6731Test
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4دورية أكاديمية
المؤلفون: Jiraanont, Poonnada, Kumar, Madhur, Tang, Hiu-Tung, Espinal, Glenda, Hagerman, Paul J, Hagerman, Randi J, Chutabhakdikul, Nuanchan, Tassone, Flora
المصدر: Expert Review of Molecular Diagnostics. 17(11)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Fragile X Syndrome, Brain Disorders, Genetics, Mental Health, Autism, Rare Diseases, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Alleles, Child, Child, Preschool, DNA Methylation, Fragile X Mental Retardation Protein, Gene Expression Regulation, Humans, Infant, Male, Mosaicism, Mutation, RNA, Messenger, Sequence Analysis, DNA, Sequence Deletion, Trinucleotide Repeat Expansion, Young Adult, FMR1mRNA, FMRP, transcription, fragile X syndrome, methylation, mosaicism, deletion, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8x10k42pTest
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5دورية أكاديمية
المصدر: Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1860(11)
مصطلحات موضوعية: Biological Sciences, Genetics, Fragile X Syndrome, Rare Diseases, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Ataxia, Case-Control Studies, DNA Mutational Analysis, Fragile X Mental Retardation Protein, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Middle Aged, Mutation, Protein Isoforms, Protein Splicing, Tremor, Trinucleotide Repeat Expansion, Alternative splicing, FMR1 gene, FXTAS, RNA toxicity, SMRT sequencing, Isoforms, Biochemistry & Molecular Biology, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5qw4t47zTest
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6دورية أكاديمية
المؤلفون: Buijsen, RAM, Visser, JA, Kramer, P, Severijnen, EAWFM, Gearing, M, Charlet-Berguerand, N, Sherman, SL, Berman, RF, Willemsen, R, Hukema, RK
المصدر: Human Reproduction. 31(1)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Rare Diseases, Fragile X Syndrome, Genetics, Neurosciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Animals, Ataxia, Disease Models, Animal, Female, Fragile X Mental Retardation Protein, Humans, Intranuclear Inclusion Bodies, Male, Mice, Mice, Inbred C57BL, Middle Aged, Mutation, Peptides, Primary Ovarian Insufficiency, Tremor, Trinucleotide Repeat Expansion, FXPOI, FMR1 premutation, FMRpolyG, RAN translation, inclusions, FXTAS, trinucleotide repeat expansion, CGG-repeat, ovarian failure, HPG-axis, Medical and Health Sciences, Studies in Human Society, Obstetrics & Reproductive Medicine, Reproductive medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9qw701fdTest
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7دورية أكاديمية
المؤلفون: Wang, Jun Yi, Hessl, David, Hagerman, Randi J, Simon, Tony J, Tassone, Flora, Ferrer, Emilio, Rivera, Susan M
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Biomedical Imaging, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Rare Diseases, Brain Disorders, Fragile X Syndrome, Aging, Neurosciences, Neurological, Adolescent, Adult, Aged, Aged, 80 and over, Ataxia, Atrophy, Brain Stem, Cerebellum, Child, Cross-Sectional Studies, Fragile X Mental Retardation Protein, Gene Expression, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neuroimaging, Organ Size, RNA, Messenger, Retrospective Studies, Tremor, Trinucleotide Repeat Expansion, Young Adult, Fragile X, FXTAS, Fragile X premutation, FMR1, MRI, Neurodegenerative disorder, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Foote, Molly M, Careaga, Milo, Berman, Robert F
المصدر: The Clinical Neuropsychologist. 30(6)
مصطلحات موضوعية: Biological Psychology, Clinical and Health Psychology, Psychology, Applied and Developmental Psychology, Fragile X Syndrome, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Brain Disorders, Genetics, Neurodegenerative, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Ataxia, Disease Models, Animal, Fragile X Mental Retardation Protein, Humans, Male, Mice, Mutation, Neuropsychological Tests, Tremor, Trinucleotide Repeat Expansion, Fragile X premutation, FXTAS, intranuclear inclusions, Fragile X mental retardation gene, Fragile X mental retardation protein, Cognitive Sciences, Clinical Psychology, Applied and developmental psychology, Biological psychology, Clinical and health psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/82f6g6d5Test
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9دورية أكاديمية
المؤلفون: Gonçalves, Thaís Fernandez, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Tassone, Flora, Mendoza-Morales, Guadalupe, Ribeiro, Márcia Gonçalves, Kahn, Evelyn, Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros
المصدر: Expert Review of Molecular Diagnostics. 16(4)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Child, Exons, Fragile X Mental Retardation Protein, Humans, Introns, Male, Mosaicism, Mutation, Sequence Deletion, Trinucleotide Repeat Expansion, mosaicism, deletion, FMR1 gene, copy number variation, Fragile X syndrome, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2cf0g7nqTest
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10دورية أكاديمية
المؤلفون: Tassone, Flora
المصدر: Expert Review of Molecular Diagnostics. 15(11)
مصطلحات موضوعية: Genetics, Brain Disorders, Behavioral and Social Science, Fragile X Syndrome, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Pediatric, Alleles, DNA Methylation, Fragile X Mental Retardation Protein, Humans, Mass Screening, Molecular Diagnostic Techniques, Mutation, Prevalence, Trinucleotide Repeat Expansion, AGG interruption, CGG repeat, FXS, methylation, premutation, Southern Blot, triplet-primed PCR, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0115v9j8Test