Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
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Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X SyndromeFragile X syndromeUnstable mutations in the FMR1 gene and the phenotypesThe FMR1 gene, infertility, and reproductive decision-making: a reviewDevelopment of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion MutationsStudy of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 GeneMolecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related DisordersA novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.Distribution of AGG interruption patterns within nine world populations.AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyWidespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.Fragile X Syndrome: Scientific Background and Screening Technologies.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersFragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis.Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiPrenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).
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P2860
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 June 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@en
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
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type
label
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@en
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@nl
prefLabel
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@en
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@nl
P2093
P2860
P1476
Expansion of an FMR1 grey-zone allele to a full mutation in two generations.
@en
P2093
Blanca Lopez Posadas
Christopher Raske
Flora Tassone
Isabel Fernandez-Carvajal
Paul J Hagerman
Ruiqin Pan
P2860
P304
P356
10.2353/JMOLDX.2009.080174
P577
2009-06-12T00:00:00Z