Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. (Q35477681)

8 August 2017

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. (English)

1 reference

8 August 2017

1 reference

Darren G Monckton

9

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author name string

Fernando Morales

1

1 reference

8 August 2017

Melissa Vásquez

2

1 reference

8 August 2017

Patricia Cuenca

3

1 reference

8 August 2017

Domingo Campos

4

1 reference

8 August 2017

Carolina Santamaría

5

1 reference

8 August 2017

Gerardo Del Valle

6

1 reference

8 August 2017

Roberto Brian

7

1 reference

8 August 2017

Mauricio Sittenfeld

8

1 reference

8 August 2017

language of work or name

1 reference

23 July 2014

1 reference

European Journal of Human Genetics

8 August 2017

1 reference

8 August 2017

23

1 reference

8 August 2017

646-653

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8 August 2017

5

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.138

8 August 2017

0 references

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MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

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The genetic interpretation of area under the ROC curve in genomic profiling

12 July 2018

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

12 July 2018

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

12 July 2018

1 reference

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Somatic instability of CTG repeat in myotonic dystrophy

12 July 2018

1 reference

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Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

12 July 2018

1 reference

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Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

12 July 2018

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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

12 July 2018

1 reference

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Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

12 July 2018

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Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

12 July 2018

1 reference

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

12 July 2018

1 reference

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Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor

12 July 2018

1 reference

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Anticipation in myotonic dystrophy: fact or fiction?

12 July 2018

1 reference

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Genetic risks for children of women with myotonic dystrophy

12 July 2018

1 reference

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

12 July 2018

1 reference

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

12 July 2018

1 reference

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

12 July 2018

1 reference

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Cloning of the essential myotonic dystrophy region and mapping of the putative defect

12 July 2018

1 reference

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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.

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

27 July 2018

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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.

26 September 2018

1 reference

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High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.

26 September 2018

1 reference

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Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

26 September 2018

1 reference

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Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.

26 September 2018

1 reference

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Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy

26 September 2018

1 reference

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

26 September 2018

1 reference

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

26 September 2018

1 reference

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Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.

26 September 2018

1 reference

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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.138

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.138

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat

21 January 2018

1 reference

12 December 2020

Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

1 reference

12 December 2020

Dystrophia myotonica in childhood

1 reference

12 December 2020

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

1 reference

12 December 2020

Anticipation in myotonic dystrophy: a parental-sex-related phenomenon

1 reference

12 December 2020

Minimal somatic instability of CTG repeat in congenital myotonic dystrophy

1 reference

12 December 2020

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

12 December 2020

Intergenerational stability of the myotonic dystrophy protomutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.138

1 reference

8 August 2017

1 reference

8 August 2017

1 reference