A family with two female siblings with compound heterozygous FMR1 premutation alleles. - Wikidata - awgldk - TriplyDB

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

http://www.wikidata.org/entity/Q37718076

about

Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

P2860

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A family with two female siblings with compound heterozygous FMR1 premutation alleles.

http://www.wikidata.org/entity/Q37718076

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 28 July 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@en

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@nl

type

label

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@en

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@nl

prefLabel

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@en

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

@nl

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Clinical Genetics

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A family with two female siblings with compound heterozygous FMR1 premutation alleles

@en

P2093

C M Yrigollen

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

D Hessl

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F Tassone

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K Basuta

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R J Hagerman

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R Lozano

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P2860

“Mini-mental state”

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

The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance

Prevalence and risk of migraine headaches in adult fragile X premutation carriers

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.

FMR1 and the continuum of primary ovarian insufficiency.

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

Neuropsychological profiles of three sisters homozygous for the fragile X premutation.

P304

458-463

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scholarly article

P356

10.1111/CGE.12218

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5

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85

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Andrea Schneider

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2013-07-28T00:00:00Z

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23786467

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3996450

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