(Q71788855)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923947%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats (English)

1 reference

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21 October 2019

1 reference

1

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21 October 2019

Corrado Angelini

9

1 reference

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21 October 2019

Antonio Pizzuti

10

1 reference

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21 October 2019

author name string

G Novelli

2

1 reference

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21 October 2019

F Andreasi Bassi

3

1 reference

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21 October 2019

L Martorell

4

1 reference

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21 October 2019

M Cornet

5

1 reference

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21 October 2019

E Menegazzo

6

1 reference

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21 October 2019

M L Mostacciuolo

7

1 reference

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21 October 2019

J M Martinez

8

1 reference

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21 October 2019

M Baiget

11

1 reference

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21 October 2019

B Dallapiccola

12

1 reference

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21 October 2019

publication date

1 November 1996

1 reference

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American Journal of Medical Genetics Part A

21 October 2019

published in

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21 October 2019

volume

65

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21 October 2019

issue

4

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21 October 2019

page(s)

342-347

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Correlation between decreased myocardial glucose phosphorylation and the DNA mutation size in myotonic dystrophy

21 October 2019

cites work

1 reference

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Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

21 January 2018

1 reference

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Somatic instability of CTG repeat in myotonic dystrophy

21 January 2018

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

21 January 2018

1 reference

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21 January 2018

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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

21 January 2018

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Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy

21 January 2018

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21 January 2018

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

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Meiotic drive at the myotonic dystrophy locus

21 January 2018

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

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Unstable DNA sequence in myotonic dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period

21 January 2018

1 reference

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Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

21 January 2018

1 reference

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Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

21 January 2018

1 reference

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Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation

21 January 2018

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Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

21 January 2018

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

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(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

21 January 2018

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Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

21 January 2018

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Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

21 January 2018

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Testing for cancer genes: Decisions, decisions

21 January 2018

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The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus

21 January 2018

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

21 January 2018

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Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion

21 January 2018

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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

21 January 2018

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Myotonic dystrophy reviewed: back to the future?

21 January 2018

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Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability

21 January 2018

1 reference

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Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19961111)65:4<342::AID-AJMG18>3.0.CO;2-U

21 January 2018

Identifiers

DOI

0 references

1 reference