(Q46702599)

24 December 2017

title

Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders (English)

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24 December 2017

author name string

Allyn McConkie-Rosell

1

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24 December 2017

Liane Abrams

2

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24 December 2017

Brenda Finucane

3

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24 December 2017

Amy Cronister

4

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24 December 2017

Louise W Gane

5

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24 December 2017

Sarah M Coffey

6

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24 December 2017

Stephanie Sherman

7

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24 December 2017

Lawrence M Nelson

8

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24 December 2017

Elizabeth Berry-Kravis

9

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24 December 2017

David Hessl

10

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24 December 2017

Sufen Chiu

11

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24 December 2017

Natalie Street

12

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24 December 2017

Ajay Vatave

13

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24 December 2017

Randi J Hagerman

14

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24 December 2017

publication date

12 May 2007

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24 December 2017

Journal of Genetic Counseling

published in

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24 December 2017

volume

16

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24 December 2017

issue

5

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24 December 2017

page(s)

593-606

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24 December 2017

Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10897-007-9099-Y

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10897-007-9099-Y

FMRP expression as a potential prognostic indicator in fragile X syndrome.

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

Phenotypic variation and FMRP levels in fragile X.

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12 December 2020

Prevalence of FMR1 repeat expansions in movement disorders. A systematic review

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12 December 2020

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

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12 December 2020

The fragile-X premutation: a maturing perspective

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12 December 2020

Association of FMR1 repeat size with ovarian dysfunction

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12 December 2020

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

1 reference

12 December 2020

Fragile X syndrome: diagnostic and carrier testing

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12 December 2020

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

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12 December 2020

Psychiatric disorders associated with fragile X in the young female.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Evidence of early ovarian aging in fragile X premutation carriers

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12 December 2020

Attitudes toward fragile X mutation carrier testing from women identified in a general population survey

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12 December 2020

Carrier testing in fragile X syndrome: effect on self-concept.

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12 December 2020

Size bias of fragile X premutation alleles in late-onset movement disorders.

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12 December 2020

The FMR1 premutation and reproduction

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12 December 2020

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

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12 December 2020

Fragile X syndrome is less common than previously estimated

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12 December 2020

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

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

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

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12 December 2020

Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women

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12 December 2020

Prevalence of fragile X syndrome

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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12 December 2020

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS).

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12 December 2020

Autistic behaviors among girls with fragile X syndrome.

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12 December 2020

Mental status of females with an FMR1 gene full mutation

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12 December 2020

Screening for fragile X syndrome: information needs for health planners

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12 December 2020

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

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12 December 2020

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

1 reference

12 December 2020

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

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

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12 December 2020

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

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12 December 2020

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

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12 December 2020

Abnormal behaviors of young girls with fragile X syndrome

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12 December 2020

Carrier testing in fragile X syndrome: when to tell and test.

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12 December 2020

Neurobehavioral phenotype in carriers of the fragile X premutation

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12 December 2020

Fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

12 December 2020

Prevalence of the fragile X syndrome in African-Americans

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12 December 2020

Fragile X syndrome and selective mutism.

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12 December 2020

Molecular/clinical correlations in females with fragile X.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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12 December 2020

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

1 reference

12 December 2020

Autistic spectrum disorder and the fragile X premutation.

1 reference

12 December 2020

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

1 reference

12 December 2020

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

1 reference

12 December 2020

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.

1 reference

12 December 2020

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

1 reference

12 December 2020

The behavioral neurogenetics of fragile X syndrome: analyzing gene-brain-behavior relationships in child developmental psychopathologies

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12 December 2020

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

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12 December 2020

Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy.

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12 December 2020

Attitudes toward prenatal screening and testing for Fragile X

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12 December 2020

10.1007/S10897-007-9099-Y

Identifiers

DOI

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24 December 2017

PubMed ID

17497108

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24 December 2017