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1. Full Text Erratum zu: Genetische Ursachen der prämaturen Ovarialinsuffizienz
by Rehnitz, J and Strowitzki, T and Vogt, P. H
Gynäkologische Endokrinologie, ISSN 1610-2894, 11/2018, Volume 16, Issue 4, pp. 239 - 239
Erratum zu:Gynäkologische Endokrinologie 2018https://doi.org/10.1007/s10304-018-0209-8In der zunächst publizierten Online-Version des Beitrags war Abb. 1... 
FMR1 protein
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2. Full Text Retraction: Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
Bioscience reports, ISSN 0144-8463, 04/2019, Volume 39, Issue 4, p. BSR-20170856_RET
FMR1 protein
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3. Full Text Prevalence of CGG expansions of the FMR1 gene in a US population‐based sample
by Seltzer, Marsha Mailick and Baker, Mei Wang and Hong, Jinkuk and Maenner, Matthew and Greenberg, Jan and Mandel, Daniel
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 07/2012, Volume 159B, Issue 5, pp. 589 - 597
The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the “gray zone” using a population‐based sample of... 
prevalence | FMR1 | premutation and gray zone CGG expansions | FMR1 premutation and gray zone CGG expansions | Prevalence | PREMUTATION | INTERMEDIATE-SIZE | PSYCHIATRY | TREMOR-ATAXIA-SYNDROME | EXPANDED ALLELES | FULL-MUTATION | TREMOR/ATAXIA SYNDROME | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | CAPILLARY-ELECTROPHORESIS | SYNDROME CARRIER | NEWBORN MALES | Genetics, Population | United States | Humans | Middle Aged | Male | Mutation - genetics | Case-Control Studies | Phenotype | Trinucleotide Repeat Expansion - genetics | Adult | Female | Fragile X Mental Retardation Protein - genetics | Longitudinal Studies | Wisconsin | Index Medicus | Age | FMR1 premutationand gray zoneCGG expansions
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4. Full Text FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve
by Rehnitz, Julia and Alcoba, Diego D and Brum, Ilma S and Dietrich, Jens E and Youness, Berthe and Hinderhofer, Katrin and Messmer, Birgitta and Freis, Alexander and Strowitzki, Thomas and Germeyer, Ariane
Reproductive Biology and Endocrinology, ISSN 1477-7827, 07/2018, Volume 16, Issue 1, pp. 65 - 65
Background: Fragile-X-Mental-Retardation-1-(FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5'-UTR a... 
Granulosa cells | FMR1 genotype | FMR1 expression | FMR1 CGG repeat length | NUMBER | FRAGILE-X PREMUTATION | CARRIERS | WOMEN | REPRODUCTIVE BIOLOGY | TREMOR/ATAXIA SYNDROME | GENE | NORMAL-RANGE | ENDOCRINOLOGY & METABOLISM | IN-VITRO FERTILIZATION | MENOPAUSE | ASSOCIATION | Ovarian Reserve - genetics | Exons | Humans | Gene Expression Regulation | Repetitive Sequences, Nucleic Acid | Female | Fragile X Mental Retardation Protein - genetics | Fragile X Mental Retardation Protein - metabolism | Gene Expression Profiling | Granulosa Cells - metabolism | Physiological aspects | Genetic aspects | Research | Ovaries | Gene expression | In vitro fertilization | Polycystic ovary syndrome | Statistical analysis | Nucleotide sequence | Intellectual disabilities | Data processing | mRNA | Leukocytes | Statistics | Oocytes | Studies | Proteins | Genotyping | Womens health | Alleles | Ataxia | Mutation | Genotypes | FMR1 protein | Index Medicus
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5. Full Text Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of FXTAS?
by Shickman, Ryan and Famula, Jessica and Tassone, Flora and Leehey, Maureen and Ferrer, Emilio and Rivera, Susan M and Hessl, David
Movement disorders : official journal of the Movement Disorder Society, ISSN 0885-3185, 4/2018, Volume 33, Issue 4, pp. 628 - 636
tremor | ataxia | neurodegeneration | CANTAB | FMR1 gene
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6. Full Text Experiential contributions to social dominance in a rat model of fragile-X syndrome
by Saxena, K and Webster, J and Hallas-Potts, A and Mackenzie, R and Spooner, P.A and Thomson, D and Kind, P and Chatterji, S and Morris, R.G.M
Proceedings of the Royal Society B: Biological Sciences, ISSN 0962-8452, 06/2018, Volume 285, Issue 1880, pp. 20180294 - 20180294
Social withdrawal is one phenotypic feature of the monogenic neurodevelopmental disorder fragile-X. Using a 'knockout' rat model of fragile-X, we examined... 
Gene-environment interactions | Hierarchy | Social dominance | Fragile-X | Autism-spectrum disorders | Fmr1 | MENTAL-RETARDATION | ANXIETY | BEHAVIOR | hierarchy | autism-spectrum disorders | social dominance | EVOLUTIONARY BIOLOGY | gene-environment interactions | MOUSE MODEL | BIOLOGY | ECOLOGY | DEFICITS | fragile-X | FMR1 KNOCKOUT MICE | AMYGDALA | Phenotypes | Stability | Encounters | Rats | Dominance | Cages | Social factors | Gene deletion | Neurodevelopmental disorders | Drug development | Environmental impact | Animals | Social interactions | Clonal deletion | Rodents | Deletion | Social hierarchy | Genotypes | FMR1 protein | Index Medicus | 133 | Neuroscience and Cognition | 1001 | gene–environment interactions
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7. Full Text Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females
by Loesch, Danuta Z and Tassone, Flora and Mellick, George D and Horne, Malcolm and Rubio, Justin P and Bui, Minh Q and Francis, David and Storey, Elsdon
Movement Disorders, ISSN 0885-3185, 07/2018, Volume 33, Issue 7, pp. 1178 - 1181
Background and Objective There is convincing evidence that small CGG expansion (41‐54 repeats): FMR1 “gray zone” alleles (GZ) contribute to the risk of... 
grey zone alleles | Parkinson's disease | carrier screening | gene | increased risk | FMR1 | FMR1 gene | PREMUTATION | INTERMEDIATE-SIZE | FRAGILE | INVOLVEMENT | EXPANDED ALLELES | CARRIERS | CLINICAL NEUROLOGY | TREMOR/ATAXIA SYNDROME | GENE | DISEASE | MUTATIONS | Allelomorphism | Brain research | Medical screening | Health aspects | Risk factors | Neonates | Basal ganglia | Alleles | Central nervous system diseases | Females | Synergism | Movement disorders | FMR1 protein | Parkinson’s disease
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8. Full Text Impaired spatial processing in a mouse model of fragile X syndrome
by Ghilan, Mohamed and Bettio, Luis E.B and Noonan, Athena and Brocardo, Patricia S and Gil-Mohapel, Joana and Christie, Brian R
Behavioural Brain Research, ISSN 0166-4328, 09/2018, Volume 350, pp. 72 - 79
Fragile X syndrome (FXS) is the most common form of inherited intellectual impairment. The mouse model has been previously shown to have deficits in context... 
Dentate gyrus | Fmr1−/y mouse | Metric change | Temporal order | Fragile X syndrome | Hippocampus | Cornu ammonis 1 | mouse | Fmr1 | TEMPORAL-ORDER | Fmr1(-/y ) mouse | EXPLORATORY-BEHAVIOR | SYNAPTIC PLASTICITY | NEUROSCIENCES | PATTERN SEPARATION | DORSAL HIPPOCAMPUS | CGG REPEAT | MEDIAL PREFRONTAL CORTEX | BEHAVIORAL SCIENCES | RECOGNITION MEMORY | LONG-TERM POTENTIATION | Genetic engineering
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9. Molecular analysis of fragile X syndrome in Antalya Province
by Bilgen, T and Keser, I and Mihci, E and Haspolat, S and Tacoy, S and Luleci, G
Molecular analysis of fragile X syndrome in Antalya Province, 12/2005
Background: Detection of the (CGG)n repeats in the FMR1 gene that cause the fragile X syndrome (FXS), has become a milestone for phenotype-genotype correlation... 
Antalya, CGG repeats, expand long PCR, fragile X syndrome, FMR1 gene
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10. Full Text Decreased GABAA receptor expression in the seizure-prone fragile X mouse
by El Idrissi, Abdeslem and Ding, Xiao-Hua and Scalia, Jason and Trenkner, Ekkhart and Brown, W. Ted and Dobkin, Carl
Neuroscience Letters, ISSN 0304-3940, 04/2005, Volume 377, Issue 3, pp. 141 - 146
The fragile X mental retardation syndrome is due to the transcriptional silence of the fragile X gene, FMR1, and to the resulting loss of the FMR1 product,... 
Immunohistochemistry | Western | receptor | Epilepsy | FMR1 | GABA | GAD
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11. Full Text Fragile X syndrome due to a missense mutation
by Myrick, Leila K and Nakamoto-Kinoshita, Mika and Lindor, Noralane M and Kirmani, Salman and Cheng, Xiaodong and Warren, Stephen T
European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1185 - 1189
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion... 
missense | mutation | FMR1 sequencing | fragile X syndrome | POINT MUTATION | FMR1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | KH DOMAIN | IDENTIFICATION | RNA-BINDING | CGG REPEAT | GENETICS & HEREDITY | MENTAL-RETARDATION PROTEIN | Fragile X Syndrome - genetics | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Genetic Loci | Mutation, Missense | Trinucleotide Repeat Expansion | Adolescent | Alleles | Protein Conformation | Fragile X Mental Retardation Protein - genetics | Polymorphism, Single Nucleotide | Fragile X Syndrome - diagnosis | Glutamic acid | Intellectual disabilities | Glycine | Medical screening | Males | Patients | Mental retardation | Proteins | Autism | Fragile X mental retardation protein | Missense mutation | Genetics | Fragile X syndrome | Mutation | FMR1 protein | Index Medicus
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12. Full Text Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
by O’Keefe, Joan A and Robertson-Dick, Erin and Dunn, Emily J and Li, Yan and Deng, Youping and Fiutko, Amber N and Berry-Kravis, Elizabeth and Hall, Deborah A
The Cerebellum, ISSN 1473-4222, 12/2015, Volume 14, Issue 6, pp. 650 - 662
Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a “premutation” size 55–200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1)... 
FMR1 premutation carrier | Cerebellum | Neurology | Fragile X-associated tremor/ataxia syndrome (FXTAS) | Neurosciences | Biomedicine | Computerized dynamic posturography | Neurobiology | Fragile X mental retardation 1 ( FMR1 ) gene | Balance | Fragile X mental retardation 1 (FMR1) gene | FragileXmental retardation1(FMR1) gene | NEUROSCIENCES | EXERCISE | POSTUROGRAPHY | FEATURES | CEREBELLAR-ATAXIA | POSTURAL STABILITY | MOTOR | CLINICAL PHENOTYPE | MALES | BRAIN CHANGES | PARKINSONS-DISEASE | Computers | Fragile X Syndrome - physiopathology | Humans | Middle Aged | Male | Reaction Time | Tremor - physiopathology | Activities of Daily Living | Aged, 80 and over | Adult | Female | Ataxia - genetics | Fragile X Syndrome - genetics | Ataxia - physiopathology | Tremor - diagnosis | Postural Balance - genetics | Ataxia - diagnosis | Trinucleotide Repeat Expansion | Regression Analysis | Biomechanical Phenomena | Tremor - genetics | Monitoring, Physiologic - methods | Heterozygote | Aged | Fragile X Mental Retardation Protein - genetics | Early Diagnosis | Fragile X Syndrome - diagnosis | Batteries | Tremor | Neural networks | Mental illness | Analysis | Cells | Index Medicus
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13. Full Text Problemy zdrowotne u kobiet nosicielek premutacji w genie FMR1
by Lisik, Małgorzata Zofia
Psychiatria Polska, ISSN 0033-2674, 2017, Volume 51, Issue 5, pp. 899 - 907
Premutation | Depression | FMR1 gene
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14. Full Text Clinical implication of FMR1 intermediate alleles in a Spanish population
by Alvarez‐Mora, M.I and Madrigal, I and Martinez, F and Tejada, M.‐I and Izquierdo‐Alvarez, S and Sanchez‐Villar de Saz, P and Caro‐Llopis, A and Villate, O and Rodríguez‐Santiago, B and Pérez Jurado, L.A and Rodriguez‐Revenga, L and Milà, M
Clinical Genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 153 - 158
FMR1 premutation carriers (55‐200 CGGs) are at risk of developing Fragile X‐associated primary ovarian insufficiency as well as Fragile X‐associated... 
genetic counseling | FMR1 | gray zone | primary ovarian insufficiency | movement disorders | neurodevelopmental disorders | intermediate alleles | FMR1 intermediate alleles | CGG EXPANSIONS | REPEAT EXPANSION | GRAY-ZONE | SIZES | PREVALENCE | WOMEN | GENE | GENETICS & HEREDITY | COMMON | MUTATIONS | RANGE | Allelomorphism | Movement disorders | Risk factors | Medical genetics | Phenotypes | Statistical analysis | Tremor | Mental disorders | Neurodevelopmental disorders | Population genetics | Mental retardation | Fragile X mental retardation protein | Etiology | Alleles | Ataxia | Fragile X syndrome | FMR1 protein
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15. Full Text Age‐ and CGG repeat‐related slowing of manual movement in fragile X carriers: A prodrome of fragile X‐associated tremor ataxia syndrome?
by Shickman, Ryan and Famula, Jessica and Tassone, Flora and Leehey, Maureen and Ferrer, Emilio and Rivera, Susan M and Hessl, David
Movement Disorders, ISSN 0885-3185, 04/2018, Volume 33, Issue 4, pp. 628 - 636
BackgroundFragile X premutation carriers are at increased risk for fragile X-associated tremor ataxia syndrome (FXTAS), but to date we know little about... 
neurodegeneration | CANTAB | tremor | ataxia | gene | FMR1 | FMR1 gene | PREMUTATION CARRIERS | ALZHEIMERS-DISEASE | TREMOR/ATAXIA SYNDROME FXTAS | EXPANDED ALLELES | CLINICAL NEUROLOGY | CHOICE-REACTION-TIME | FMR1 MESSENGER-RNA | AMYGDALA DYSFUNCTION | RATING-SCALE | PARKINSONS-DISEASE | WORKING-MEMORY | Medical research | Nervous system diseases | Pyrimidines | Parkinson's disease | Medicine, Experimental | Ataxia | Plants | Batteries | Mental illness | Cerebellum | Executive function | Basal ganglia | Tremor | Memory | Spatial discrimination | Central nervous system diseases | Substantia alba | Motor task performance | Mental retardation | Guanine | Fragile X mental retardation protein | Magnetic resonance imaging | Problem solving | Biomarkers | Cytosine | Fragile X syndrome | Short term memory | Movement disorders | Spatial memory | Index Medicus
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16. Full Text FAN1 protects against repeat expansions in a Fragile X mouse model
by Zhao, Xiao-Nan and Usdin, Karen
DNA Repair, ISSN 1568-7864, 09/2018, Volume 69, pp. 1 - 5
The Fragile X-related disorders (FXDs) are members of a large group of human neurological or neurodevelopmental conditions known as the Repeat Expansion... 
FX-associated primary ovarian insufficiency (FXPOI) | 5′-3′ exonuclease activity | Mismatch repair | Repeat expansion | FMR1- related disorders (FMR1 disorders) | FX-associated tremor and ataxia syndrome (FXTAS) | Fragile X syndrome (FXS) | 5′ flap endonuclease activity | KIAA1018/FAN1 | INSTABILITY | KARYOMEGALIC INTERSTITIAL NEPHRITIS | DNA-DAMAGE | DISORDERS | IDENTIFICATION | FANCONI-ANEMIA | NUCLEASE | 5 '-3 ' exonuclease activity | 5 ' flap endonuclease activity | CROSS-LINK REPAIR | FMR1-related disorders (FMR1 disorders) | GENETICS & HEREDITY | TOXICOLOGY | Fragile X Syndrome - genetics | Fragile X Syndrome - metabolism | Male | DNA - metabolism | Trinucleotide Repeat Expansion | Mice, Knockout | Endodeoxyribonucleases - genetics | Animals | DNA Mismatch Repair | Endodeoxyribonucleases - metabolism | Female | Mice | Mutation | Disease Models, Animal | Index Medicus | 5’-3’ exonuclease activity | Repeat Expansion | 5’ flap endonuclease activity
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17. Full Text Rescue of Fmr1KO phenotypes with mGluR5 inhibitors: MRZ-8456 versus AFQ-056
by Westmark, Cara J and Westmark, Pamela R and Dekundy, Andrzej and Gravius, Andreas and Danysz, Wojciech
Neurobiology of Disease, ISSN 0969-9961, 11/2018, Volume 119, pp. 190 - 198
Metabotropic glutamate receptor 5 (mGluR ) is a drug target for central nervous system disorders such as fragile X syndrome that involve excessive... 
Amyloid-beta precursor protein | AFQ-056 | MPEP | mGluR5 | Fmr1 | MRZ-8456 | mGluR
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