Reproductive and menstrual history of females with fragile X expansions
about
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutationUnstable 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 GeneTwenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care.Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.Premature ovarian failure in the fragile X syndrome.Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriersMale carriers of the FMR1 premutation show altered hippocampal-prefrontal function during memory encodingFragile X premutation RNA is sufficient to cause primary ovarian insufficiency in miceTrisomic pregnancy and intermediate CGG repeat length at the FMR1 locusNonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle.Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency.Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families.Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers.FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.Association of FMR1 repeat size with ovarian dysfunction.CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.Can the FMR1 (fragile X) gene serve as predictor of response to ovarian stimulation?Examination of reproductive aging milestones among women who carry the FMR1 premutation.An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.Guidelines for the appropriate use of genetic tests in infertile couples.
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Reproductive and menstrual history of females with fragile X expansions
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on April 2000
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Reproductive and menstrual history of females with fragile X expansions
@en
Reproductive and menstrual history of females with fragile X expansions.
@nl
type
label
Reproductive and menstrual history of females with fragile X expansions
@en
Reproductive and menstrual history of females with fragile X expansions.
@nl
prefLabel
Reproductive and menstrual history of females with fragile X expansions
@en
Reproductive and menstrual history of females with fragile X expansions.
@nl
P2093
P2860
P356
P1476
Reproductive and menstrual history of females with fragile X expansions
@en
P2093
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5200451
P577
2000-04-01T00:00:00Z