(Q36208811)

12 August 2017

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

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12 August 2017

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Allyn McConkie-Rosell

1

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12 August 2017

Brenda Finucane

2

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12 August 2017

Amy Cronister

3

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12 August 2017

Liane Abrams

4

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12 August 2017

Robin L Bennett

5

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12 August 2017

Barbara J Pettersen

6

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12 August 2017

1 August 2005

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Journal of Genetic Counseling

12 August 2017

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12 August 2017

14

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12 August 2017

4

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12 August 2017

249-270

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

12 August 2017

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Crossref

https://api.crossref.org/works/10.1007%2FS10897-005-4802-X

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

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS10897-005-4802-X

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range

21 January 2018

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12 December 2020

Newborn screening for fragile X syndrome

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12 December 2020

Experience with multiple approaches to the prenatal diagnosis of the fragile X syndrome: amniotic fluid, chorionic villi, fetal blood and molecular methods.

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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

Paternal transmission of fragile X syndrome.

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12 December 2020

Screening for fragile X syndrome: results from a school for mentally retarded children.

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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

Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

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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

Fragile X syndrome: diagnostic and carrier testing

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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

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

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12 December 2020

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

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12 December 2020

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

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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

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

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

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

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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

"Family matters": a conceptual framework for genetic testing in children.

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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

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

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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

Translational suppression by trinucleotide repeat expansion at FMR1.

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12 December 2020

"Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.

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12 December 2020

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

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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

Reproductive and menstrual history of females with fragile X expansions

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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

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

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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

Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders

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12 December 2020

Expansion to full mutation of a FMR1 intermediate allele over two generations.

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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 premutations in familial premature ovarian failure

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12 December 2020

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

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12 December 2020

Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors

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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

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

Prenatal diagnosis and carrier screening for fragile X by PCR.

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12 December 2020

Population based prenatal screening for the fragile X syndrome.

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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

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

Emotional and neurocognitive deficits in fragile X

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12 December 2020

Psychological aspects of genetic counseling. III. Management of guilt and shame

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12 December 2020

A developmental approach to understanding Fragile X syndrome in females

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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

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

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12 December 2020

Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico

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12 December 2020

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

1 reference

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

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

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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

Should all pregnant women be offered carrier testing for fragile X syndrome?

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12 December 2020

Timing of the absence of FMR1 expression in full mutation chorionic villi.

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12 December 2020

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the 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

Long-term cognitive and emotional impact of genetic testing for carriers of cystic fibrosis: the effects of test result and gender.

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12 December 2020

Screening for Fragile X Syndrome: Parent attitudes and perspectives

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12 December 2020

Prevalence of the fragile X syndrome in African-Americans

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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

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

1 reference

12 December 2020

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis

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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

Associated medical disorders and disabilities in children with autistic disorder: a population-based study

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12 December 2020

Fragile X genotype characterized by an unstable region of DNA.

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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

Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.

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12 December 2020

Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.

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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

Polymerase chain reaction analysis of fragile X mutations

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12 December 2020

Mental impairment in cytogenetically positive fragile X females

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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

Premature ovarian failure in the fragile X syndrome

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12 December 2020

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

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12 December 2020

Genetic counseling throughout the life cycle

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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

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

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12 December 2020

A marker X chromosome

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12 December 2020

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sex-selection of human spermatozoa: evolution of current techniques and applications

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12 December 2020

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

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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

1 reference

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

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.

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12 December 2020

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome

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12 December 2020

Screening for fragile X syndrome in women of reproductive age

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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

The mGluR theory of fragile X mental retardation

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12 December 2020

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10897-005-4802-X

Identifiers

DOI

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12 August 2017

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