(Q33906048)

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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

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29 July 2017

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect (English)

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29 July 2017

myotonic dystrophy

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Karin Jurkat-Rott

11

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Karin Jurkat-Rott

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20

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Maija Wessman

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3

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Giovanni Meola

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29 July 2017

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Josep Gamez

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Mark D. Shriver

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Mark D Shriver

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Linda L Bachinski

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29 July 2017

Bjarne Udd

2

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29 July 2017

Valeria Sansone

4

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29 July 2017

Guillaume Bassez

5

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29 July 2017

Bruno Eymard

6

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29 July 2017

Charles A Thornton

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29 July 2017

Richard T Moxley

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29 July 2017

Peter S Harper

9

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29 July 2017

Mark T Rogers

10

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29 July 2017

Frank Lehmann-Horn

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29 July 2017

Thomas Wieser

13

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29 July 2017

Carmen Navarro

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29 July 2017

Armand Bottani

16

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29 July 2017

Andre Kohler

17

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29 July 2017

Riitta Sallinen

19

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29 July 2017

Maija Wessman

20

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29 July 2017

Shanxiang Zhang

21

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29 July 2017

Fred A Wright

22

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29 July 2017

Ralf Krahe

23

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29 July 2017

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publication date

10 September 2003

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29 July 2017

American Journal of Human Genetics

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29 July 2017

73

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29 July 2017

4

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29 July 2017

835-848

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Europe PubMed Central

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29 July 2017

Nonparametric disequilibrium mapping of functional sites using haplotypes of multiple tightly linked single-nucleotide polymorphism markers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Myotonic syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Estimating allele age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Conversion of diploidy to haploidy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Linkage of proximal myotonic myopathy to chromosome 3q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Genetic mapping of a second myotonic dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

Sequential imputation for multilocus linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

De novo myotonic dystrophy mutation in a Nigerian kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

5 July 2018

DMLE+: Bayesian linkage disequilibrium gene mapping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

Faster linkage analysis computations for pedigrees with loops or unused alleles.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180606

10 December 2018

Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family with PROMM not linked to the recently mapped PROMM locus DM2

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Proximal myotonial myopathy (PROMM): clinical and histology study]

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping of mouse collagen genes on chromosome 10 by high-resolution FISH

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ethnic distribution of myotonic dystrophy gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of the expansion mutation in myotonic dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dynamic mutation loci: allele distributions in different populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/12970845

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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