Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles - Wikidata - awgldk - TriplyDB

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

http://www.wikidata.org/entity/Q24610645

about

The fragile-X premutation: a maturing perspective.Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 Fragile X syndrome Unstable mutations in the FMR1 gene and the phenotypes The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective The FMR1 gene, infertility, and reproductive decision-making: a review Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve Consensus characterization of 16 FMR1 reference materials: a consortium study Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report A review of fragile X premutation disorders: expanding the psychiatric perspective Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.Modulation of trinucleotide repeat instability by DNA polymerase β polymorphic variant R137Q.Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure Language Development in Individuals with Fragile X Syndrome Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers.Fragile X syndrome: diagnostic and carrier testing.AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.The FMR1 gene and fragile X-associated tremor/ataxia syndrome.Predictors and risk model development for menopausal age in fragile X premutation carriers.FRA2A is a CGG repeat expansion associated with silencing of AFF3 The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency A novel assay for evaluating fragile X locus repeats Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers.Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls.Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.Carrier screening in preconception consultation in primary care.C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective

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P2860

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

http://www.wikidata.org/entity/Q24610645

description

2003 nî lūn-bûn

@nan

2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@ast

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@en

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@nl

type

label

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@ast

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@en

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@nl

prefLabel

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@ast

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@en

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@nl

P1433

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American Journal of Human Genetics

P1476

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

@en

P2093

Alice D Gargano

http://www.w3.org/2001/XMLSchema#string

Amy Sullivan

http://www.w3.org/2001/XMLSchema#string

Anne Glicksman

http://www.w3.org/2001/XMLSchema#string

Elke Holinski-Feder

http://www.w3.org/2001/XMLSchema#string

Francois Rousseau

http://www.w3.org/2001/XMLSchema#string

George E Houck

http://www.w3.org/2001/XMLSchema#string

Gert Matthijs

http://www.w3.org/2001/XMLSchema#string

Harriet von Koskull

http://www.w3.org/2001/XMLSchema#string

James Macpherson

http://www.w3.org/2001/XMLSchema#string

John Longshore

http://www.w3.org/2001/XMLSchema#string

P2860

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

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Premature ovarian failure in the fragile X syndrome.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

FMR1 and the fragile X syndrome: human genome epidemiology review

Examination of factors associated with instability of the FMR1 CGG repeat.

The fragile X premutation: into the phenotypic fold.

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

P304

454-64

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scholarly article

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2972630

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10.1086/367713

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2

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72

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Jean-Louis Mandel

Elke Holinski-Feder

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2003-02-01T00:00:00Z

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10948742

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12529854

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379237

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