Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). (Q42479273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Claudio Catalli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Annalisa Botta

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Alessandra Morgante

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Raniero Iraci

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Fabrizio Rinaldi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

language of work or name

1 reference

8 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

601-606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

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.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Cerebral involvement in myotonic dystrophies

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Italian guidelines for molecular analysis in myotonic dystrophies.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Myotonic dystrophies type 1 and 2: a summary on current aspects.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Repeat instability: mechanisms of dynamic mutations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

A general method for the detection of large CAG repeat expansions by fluorescent PCR

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Dynamic mutations: a new class of mutations causing human disease

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Case control analysis of repeat expansion size in ataxia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Proximal myotonic dystrophy mimicking progressive muscular atrophy

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2928423

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

1 December 2018

1 reference

12 December 2020

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

1 reference

12 December 2020

A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2

1 reference

12 December 2020

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

12 December 2020

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

12 December 2020

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

1 reference

12 December 2020

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: An entity distinct from proximal myotonic myopathy (PROMM)?

1 reference

12 December 2020

A Single Polymerase Chain Reaction-Based Protocol for Detecting Normal and Expanded Alleles in Myotonic Dystrophy

1 reference

12 December 2020

Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2

1 reference

12 December 2020

10.2353/JMOLDX.2010.090239

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20616365%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

20616365

1 reference