(Q33706961)

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High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

8

object named as

Flora Tassone

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Paul J Hagerman

7

object named as

Paul J Hagerman

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Liangjing Chen

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Andrew Hadd

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Sachin Sah

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Jeffrey F Houghton

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Stela Filipovic-Sadic

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Wenting Zhang

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Gary J Latham

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

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publication date

1 June 2011

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

28 July 2017

13

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

528-538

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Methyl-CpG-binding PCR of bloodspots for confirmation of fragile X syndrome in males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Testing for fragile X gene mutations throughout the life span

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Errors in the bisulfite conversion of DNA: modulating inappropriate- and failed-conversion frequencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Consensus characterization of 16 FMR1 reference materials: a consortium study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Fragile X syndrome: diagnostic and carrier testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Methylation analysis of the fragile X syndrome by PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Mental status of females with an FMR1 gene full mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

21 June 2018

Normal phenotype in two brothers with a full FMR1 mutation.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

X-chromosome inactivation and ovarian age during the reproductive years.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820A780F

21 January 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4043840

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21430544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A methylation PCR approach for detection of fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21430544

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1097/GIM.0B013E31820A780F

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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