Expanded clinical phenotype of women with the FMR1 premutation. (Q55420262)

8 July 2018

title

Expanded clinical phenotype of women with the FMR1 premutation. (English)

1 reference

8 July 2018

1 reference

Sarah M Coffey

1

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8 July 2018

Kylee Cook

2

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8 July 2018

Nicole Tartaglia

3

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8 July 2018

Flora Tassone

4

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8 July 2018

Danh V Nguyen

5

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8 July 2018

Ruiqin Pan

6

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8 July 2018

Hannah E Bronsky

7

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8 July 2018

Jennifer Yuhas

8

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8 July 2018

Mariya Borodyanskaya

9

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8 July 2018

Jim Grigsby

10

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8 July 2018

Melanie Doerflinger

11

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8 July 2018

Paul J Hagerman

12

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8 July 2018

Randi J Hagerman

13

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8 July 2018

language of work or name

English

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publication date

1 April 2008

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8 July 2018

American Journal of Medical Genetics

published in

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8 July 2018

volume

146A

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8 July 2018

issue

8

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8 July 2018

page(s)

1009-1016

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8 July 2018

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

The FMR1 premutation and reproduction

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Association of FMR1 repeat size with ovarian dysfunction

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

The fragile-X premutation: a maturing perspective

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Aging in individuals with the FMR1 mutation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Depressive symptoms in hypothyroid disorder with some observations on biochemical correlates

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Psychopathological and cognitive features in subclinical hypothyroidism.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Neuropathic features in fragile X premutation carriers.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

White matter lesions and cognitive impairment as silent cerebral disease in hypertension.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Protein composition of the intranuclear inclusions of FXTAS.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Magnetic resonance imaging study in older fragile X premutation male carriers.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Evidence of early ovarian aging in fragile X premutation carriers

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Molecular/clinical correlations in females with fragile X.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2888464

Prevalence of thyroid disease, thyroid dysfunction and thyroid peroxidase antibodies in a large, unselected population. The Health Study of Nord-Trondelag (HUNT)

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18348275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18348275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Evaluation of clinical and psychiatric symptoms in sub clinical hypothyroidism]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18348275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32060

1 reference

8 July 2018

PMCID

2888464

1 reference

8 July 2018

PubMed ID

18348275

1 reference

8 July 2018