Association between idiopathic premature ovarian failure and fragile X premutation. - Wikidata - wikimedia - TriplyDB

Association between idiopathic premature ovarian failure and fragile X premutation.

Association between idiopathic premature ovarian failure and fragile X premutation.

http://www.wikidata.org/entity/Q51978995

about

The fragile-X premutation: a maturing perspective.Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of The FMR1 gene, infertility, and reproductive decision-making: a review Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative trait loci influencing variation in human menopausal age.FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.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.Cytogenetics of premature ovarian failure: an investigation on 269 affected women.Initiation of translation of the FMR1 mRNA Occurs predominantly through 5'-end-dependent ribosomal scanning Depression in women with spontaneous 46, XX primary ovarian insufficiency.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency Elevated FMR1 mRNA in premutation carriers is due to increased transcription.Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice.Somatic expansion in mouse and human carriers of fragile X premutation alleles.The fragile X continuum: new advances and perspectives.Spontaneous premature ovarian failure: management challenges.Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.Identification of genes promoting skin youthfulness by genome-wide association study.Female-specific factors for IHD: across the reproductive lifespan.Current concepts in premature ovarian insufficiency.The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives.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.Examination of reproductive aging milestones among women who carry the FMR1 premutation.Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.Menopausal symptoms and the metabolic syndrome in Nigerian women with type 2 diabetes mellitus.Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.Ablation of beta subunit of protein kinase CK2 in mouse oocytes causes follicle atresia and premature ovarian failure.

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P2860

Association between idiopathic premature ovarian failure and fragile X premutation.

http://www.wikidata.org/entity/Q51978995

description

2000 nî lūn-bûn

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2000年の論文

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年学术文章

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2000年学术文章

@zh-my

2000年学术文章

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2000年學術文章

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2000年學術文章

@zh-hant

name

Association between idiopathic premature ovarian failure and fragile X premutation.

@en

Association between idiopathic premature ovarian failure and fragile X premutation.

@nl

type

label

Association between idiopathic premature ovarian failure and fragile X premutation.

@en

Association between idiopathic premature ovarian failure and fragile X premutation.

@nl

prefLabel

Association between idiopathic premature ovarian failure and fragile X premutation.

@en

Association between idiopathic premature ovarian failure and fragile X premutation.

@nl

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Human Reproduction

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Association between idiopathic premature ovarian failure and fragile X premutation.

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Crosignani PG

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Dalprà L

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Ginelli E

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Manfredini E

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Meneveri R

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Vegetti W

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P2860

Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Studies of FRAXA and FRAXE in women with premature ovarian failure.

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Fragile X premutations are not a major cause of early menopause.

Triplet repeat expansion mutations: the example of fragile X syndrome.

Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.

Genes and premature ovarian failure.

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy.

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