Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. (Q34044314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11443541%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel (English)

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9 November 2019

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2

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9 November 2019

author name string

Toledano-Alhadef H

1

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9 November 2019

Magal N

3

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9 November 2019

Davidov B

4

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9 November 2019

Ehrlich S

5

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9 November 2019

Drasinover V

6

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9 November 2019

Taub E

7

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9 November 2019

Halpern GJ

8

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9 November 2019

Ginott N

9

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9 November 2019

Shohat M

10

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9 November 2019

language of work or name

English

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publication date

6 July 2001

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American Journal of Human Genetics

9 November 2019

published in

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9 November 2019

volume

69

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9 November 2019

issue

2

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9 November 2019

page(s)

351-360

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Screening for fragile X syndrome: information needs for health planners

9 November 2019

cites work

1 reference

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Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype

28 July 2018

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Familial transmission of the FMR1 CGG repeat.

28 July 2018

1 reference

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

28 July 2018

1 reference

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Mental status of females with an FMR1 gene full mutation

28 July 2018

1 reference

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Advances in molecular analysis of fragile X syndrome

28 July 2018

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

28 July 2018

1 reference

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Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina

28 July 2018

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Fragile X genotype characterized by an unstable region of DNA.

28 July 2018

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

28 July 2018

1 reference

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Fragile X screening program in New York State.

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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Pilot fragile X screening in normal population of Taiwan.

28 July 2018

1 reference

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Efficacy of cascade testing for fragile X syndrome.

28 October 2018

1 reference

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

28 October 2018

1 reference

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Molecular fragile X screening in normal populations.

28 October 2018

1 reference

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

28 October 2018

1 reference

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

28 October 2018

1 reference

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

28 October 2018

1 reference

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Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses

28 October 2018

1 reference

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No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome

28 October 2018

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12 December 2020

Population screening for fragile-X syndrome

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12 December 2020

Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population

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12 December 2020

High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis

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12 December 2020

[First trimester ultrasound screening for nuchal translucency as marker of Down's syndrome]

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12 December 2020

Ethnic distribution of the fragile X syndrome in Israel: evidence of founder chromosomes(?)

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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

1 reference

12 December 2020

Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population

1 reference

12 December 2020

Prevalence of fragile X syndrome

1 reference

12 December 2020

Preventive screening for the fragile X syndrome

1 reference

12 December 2020

Population screening for fragile-X syndrome

1 reference

12 December 2020

Is it time for population-based prenatal screening for fragile-X?

1 reference

12 December 2020

Cost-benefit analysis of a national thalassaemia prevention programme in Israel

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12 December 2020

Population screening 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

Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes

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12 December 2020

Identifiers

DOI

10.1086/321974

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11443541%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11443541%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

11443541

1 reference