(Q48267538)

English

Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.

scientific article published on 7 January 2016

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scholarly article

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Europe PubMed Central

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4 March 2020

Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome (English)

1 reference

Europe PubMed Central

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4 March 2020

1 reference

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fragile X syndrome

1 reference

based on heuristic

inferred from title

3

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4 March 2020

author name string

Min Chen

1

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4 March 2020

Mingjue Zhao

2

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4 March 2020

Samuel S Chong

4

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7 January 2016

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4 March 2020

Genetics in Medicine

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4 March 2020

869-875

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9

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4 March 2020

https://scigraph.springernature.com/pub.10.1038/gim.2015.185

0 references

Newborn screening for fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Fragile X spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Fragile X syndrome: a review of associated medical problems

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Fragile X-associated tremor/ataxia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Multiple displacement amplification improves PGD for fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

The variance of sample heterozygosity

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

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

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

A second-generation combined linkage physical map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.185

21 January 2018

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sampling variances of heterozygosity and genetic distance

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ESHRE PGD consortium best practice guidelines for amplification-based PGD

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Premature ovarian failure in the fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26741412

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2015.185

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26741412%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26741412%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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