(Q83462818)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21344625%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation (English)

1 reference

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23 January 2020

author name string

Kirin Basuta

1

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23 January 2020

Vivien Narcisa

2

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23 January 2020

Alyssa Chavez

3

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23 January 2020

Madhur Kumar

4

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23 January 2020

Louise Gane

5

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23 January 2020

Randi Hagerman

6

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23 January 2020

Flora Tassone

7

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23 January 2020

publication date

22 February 2011

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American Journal of Medical Genetics

23 January 2020

published in

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23 January 2020

volume

155A

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23 January 2020

issue

3

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23 January 2020

page(s)

519-525

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Expanded clinical phenotype of women with the FMR1 premutation.

23 January 2020

cites work

1 reference

12 December 2020

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

1 reference

12 December 2020

Lessons from fragile X regarding neurobiology, autism, and neurodegeneration

1 reference

12 December 2020

Evidence of depressive symptoms in fragile-X syndrome premutated females.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The FMR1 premutation and reproduction

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

1 reference

12 December 2020

The fragile X premutation: into the phenotypic fold

1 reference

12 December 2020

Mood and anxiety disorders in females with the FMR1 premutation

1 reference

12 December 2020

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization

1 reference

12 December 2020

A neuropsychological investigation of male premutation carriers of fragile X syndrome.

1 reference

12 December 2020

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

12 December 2020

Clinical features of boys with fragile X premutations and intermediate alleles.

1 reference

12 December 2020

1 reference

12 December 2020

The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects.

1 reference

12 December 2020

Autistic spectrum disorder and the fragile X premutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population

1 reference

12 December 2020

Premature ovarian failure in the fragile X syndrome

1 reference

12 December 2020

A quantitative ELISA assay for the fragile x mental retardation 1 protein

1 reference

12 December 2020

The emerging fragile X premutation phenotype: evidence from the domain of social cognition.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A review of fragile X premutation disorders: expanding the psychiatric perspective

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33446

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23 January 2020

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23 January 2020

PubMed publication ID

21344625

1 reference