(Q38542561)

4 September 2017

title

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors (English)

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4 September 2017

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N McIntosh

1

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4 September 2017

L W Gane

series ordinal

2

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4 September 2017

A McConkie-Rosell

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3

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4 September 2017

R L Bennett

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4

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4 September 2017

publication date

1 August 2000

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Journal of Genetic Counseling

4 September 2017

published in

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4 September 2017

volume

9

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4 September 2017

issue

4

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4 September 2017

page(s)

303-325

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The fragile X mental retardation protein is associated with ribosomes

4 September 2017

cites work

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12 December 2020

Rapid antibody test for fragile X syndrome.

1 reference

12 December 2020

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

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12 December 2020

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data

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12 December 2020

Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome

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12 December 2020

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

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12 December 2020

Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes

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12 December 2020

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

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12 December 2020

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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12 December 2020

MZ female twins discordant for X-linked diseases: a review

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12 December 2020

FRAXA premutation associated with premature ovarian failure

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12 December 2020

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

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12 December 2020

Heteroallelic monozygotic twins and triplets

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12 December 2020

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

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12 December 2020

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

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12 December 2020

Psychiatric disability in female carriers of the fragile X chromosome.

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12 December 2020

Familial transmission of the FMR1 CGG repeat.

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12 December 2020

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

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12 December 2020

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

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12 December 2020

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

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12 December 2020

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

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12 December 2020

FRAXE and mental retardation

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12 December 2020

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

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12 December 2020

Translational suppression by trinucleotide repeat expansion at FMR1.

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12 December 2020

Molecular genetic advances in fragile X syndrome

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12 December 2020

Fragile X syndrome: diagnostic and carrier testing. Working Group of the Genetic Screening Subcommittee of the Clinical Practice Committee. American College of Medical Genetics

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12 December 2020

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

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12 December 2020

Fragile X syndrome is less common than previously estimated

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12 December 2020

Fragile X founder effect?

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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.

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12 December 2020

Prevalence of fragile X syndrome

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12 December 2020

Acculturation in Women with Mental Retardation and Its Impact on Genetic Counseling

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12 December 2020

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

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12 December 2020

The fragile X syndrome

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12 December 2020

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors

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12 December 2020

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

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12 December 2020

Frequency and stability of the fragile X premutation.

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12 December 2020

A point mutation in the FMR-1 gene associated with fragile X mental retardation

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12 December 2020

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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12 December 2020

Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

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12 December 2020

Mental status of females with an FMR1 gene full mutation

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12 December 2020

Molecular-clinical correlations in males with an expanded FMR1 mutation

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12 December 2020

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

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12 December 2020

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State

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12 December 2020

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

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12 December 2020

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

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12 December 2020

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

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12 December 2020

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

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12 December 2020

Characterization of the full fragile X syndrome mutation in fetal gametes

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12 December 2020

Normal phenotype in two brothers with a full FMR1 mutation.

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12 December 2020

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

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12 December 2020

Fragile X syndrome: of POF and premutations

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12 December 2020

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

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12 December 2020

DNA methylation represses FMR-1 transcription in fragile X syndrome

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12 December 2020

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

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12 December 2020

Fragile X syndrome without CCG amplification has an FMR1 deletion

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12 December 2020

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

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12 December 2020

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

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12 December 2020

Confirmation of early menopause in fragile X carriers

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12 December 2020

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

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12 December 2020

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

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12 December 2020

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

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12 December 2020

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population

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12 December 2020

Fragile X genotype characterized by an unstable region of DNA.

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12 December 2020

Genetic testing for children and adolescents. Who decides?

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12 December 2020

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome

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12 December 2020

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus

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12 December 2020

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.

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12 December 2020

The fragile X premutation in carriers and its effect on mutation size in offspring

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12 December 2020

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.

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12 December 2020

Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

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12 December 2020

Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

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12 December 2020

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

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12 December 2020

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

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12 December 2020

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

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12 December 2020

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

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12 December 2020

KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism

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12 December 2020

Learning-disabled males with a fragile X CGG expansion in the upper premutation size range.

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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

Reverse mutations in the fragile X syndrome.

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12 December 2020

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

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12 December 2020

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12 December 2020

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

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12 December 2020

Identifiers

DOI

10.1023/A:1009454112907

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4 September 2017

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