(Q34893204)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Valentina Gatta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Marco Tommasi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Domenico Coviello

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

7

Giandomenico Palka

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

5

Ivana Antonucci

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Elena Gennaro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Sara Franchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Massimiliano Cecconi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Marina Grasso

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

publication date

5 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1471-2350-14-79

6 March 2020

exact match

0 references

cites work

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

Detection, analysis and clinical validation of chromosomal aberrations by multiplex ligation-dependent probe amplification in chronic leukemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

FMR1: a gene with three faces

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

The fragile X prevalence paradox

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

Screening for fragile X syndrome: a literature review and modelling study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3751107

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-79

Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-79

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-79

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23914933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23914933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23914933

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-14-79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

23914933

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23914933%20AND%20SRC:MED&resulttype=core&format=json