The fragile X premutation: into the phenotypic fold (Q34699408)

4 August 2017

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title

The fragile X premutation: into the phenotypic fold (English)

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4 August 2017

Randi J Hagerman

1

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PubMed ID

12076670

4 August 2017

Paul J Hagerman

series ordinal

2

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PubMed ID

12076670

4 August 2017

language of work or name

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1 June 2002

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Current Opinion in Genetics & Development

4 August 2017

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4 August 2017

12

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4 August 2017

278-283

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4 August 2017

3

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

4 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Screening for fragile X syndrome in women of reproductive age

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Discourse processing in women with fragile x syndrome: evidence for a deficit establishing coherence

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

No widespread psychological effect of the fragile X premutation in childhood: evidence from a preliminary controlled study.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Molecular/clinical correlations in females with fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Clinical involvement and protein expression in individuals with the FMR1 premutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Transcription of the FMR1 gene in individuals with fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Association between idiopathic premature ovarian failure and fragile X premutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: a pilot study

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Internal initiation of translation of eukaryotic mRNA directed by a sequence derived from poliovirus RNA

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

A segment of the 5' nontranslated region of encephalomyocarditis virus RNA directs internal entry of ribosomes during in vitro translation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Internal initiation of translation of five dendritically localized neuronal mRNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Adult fragile X syndrome. Clinico-neuropathologic findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Analysis of neocortex in three males with the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Pathological and neuropathological findings in two males with fragile-X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900299-X

7 January 2021

10.1016/S0959-437X(02)00299-X

Identifiers

DOI

1 reference

4 August 2017

1 reference

PubMed ID

12076670