Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions. - Wikidata - wikimedia - TriplyDB

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

http://www.wikidata.org/entity/Q37730919

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Fragile X-associated tremor/ataxia syndrome.The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.Of Men and Mice: Modeling the Fragile X Syndrome.FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation

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Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

http://www.wikidata.org/entity/Q37730919

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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 06 June 2013

@en

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

Transmission of an FMR1 premut ...... the role of AGG interruptions.

@en

Transmission of an FMR1 premut ...... the role of AGG interruptions.

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type

label

Transmission of an FMR1 premut ...... the role of AGG interruptions.

@en

Transmission of an FMR1 premut ...... the role of AGG interruptions.

@nl

prefLabel

Transmission of an FMR1 premut ...... the role of AGG interruptions.

@en

Transmission of an FMR1 premut ...... the role of AGG interruptions.

@nl

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Journal of Human Genetics

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Transmission of an FMR1 premut ...... the role of AGG interruptions.

@en

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Carolyn M Yrigollen

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Flora Tassone

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Guadalupe Mendoza-Morales

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Randi Hagerman

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P2860

The fragile-X premutation: a maturing perspective.

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

The role of AGG interruptions in the transcription of FMR1 premutation alleles

Fragile X: a family of disorders.

Clinical involvement in daughters of men with 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.

Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

Advances in understanding the molecular basis of FXTAS

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553-559

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scholarly article

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10.1038/JHG.2013.50

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8

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58

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2013-06-06T00:00:00Z

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23739124

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4003888

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