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The myotonic dystrophies: molecular, clinical, and therapeutic challenges

Lancet neurology, 2012-10, Vol.11 (10), p.891-905

2012

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A TagSNP in SIRT1 gene confers susceptibility to myocardial infarction in a Chinese Han population

PloS one, 2015-02, Vol.10 (2), p.e0115339-e0115339

2015

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Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

PloS one, 2017-01, Vol.12 (1), p.e0169007-e0169007

2017

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Prevalence of Titin Truncating Variants in General Population

PloS one, 2015-12, Vol.10 (12), p.e0145284-e0145284

2015

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Modulation of miRNA expression by dietary polyphenols in apoE deficient mice: a new mechanism of the action of polyphenols

PloS one, 2012-01, Vol.7 (1), p.e29837-167

2012

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Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness

PloS one, 2015-06, Vol.10 (6), p.e0130352-e0130352

2015

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Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR

PloS one, 2011-03, Vol.6 (3), p.e17791-e17791

2011

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A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression

PloS one, 2016-04, Vol.11 (4), p.e0153323-e0153323

2016

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High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)

PloS one, 2021-09, Vol.16 (9), p.e0256276

2021

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Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

PloS one, 2015-04, Vol.10 (4), p.e0125341-e0125341

2015

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TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases

PloS one, 2017-08, Vol.12 (8), p.e0183719-e0183719

2017

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Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent

Human molecular genetics, 2021-12, Vol.31 (2), p.262-274

2021

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The Brazilian TP53 mutation (R337H) and sarcomas

PloS one, 2020-01, Vol.15 (1), p.e0227260-e0227260

2020

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Pathological molecular mechanism of symptomatic late-onset Fuchs endothelial corneal dystrophy by bioinformatic analysis

PloS one, 2018-05, Vol.13 (5), p.e0197750-e0197750

2018

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Large scale association analysis identifies three susceptibility loci for coronary artery disease

PloS one, 2011-12, Vol.6 (12), p.e29427-e29427

2011

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Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics

PloS one, 2012-08, Vol.7 (8), p.e42334-e42334

2012

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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

PloS one, 2017-05, Vol.12 (5), p.e0177955-e0177955

2017

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Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

PloS one, 2015-05, Vol.10 (5), p.e0121891-e0121891

2015

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Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

PloS one, 2019-05, Vol.14 (5), p.e0216407-e0216407

2019

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Cross-platform array screening identifies COL1A2, THBS1, TNFRSF10D and UCHL1 as genes frequently silenced by methylation in melanoma

PloS one, 2011-10, Vol.6 (10), p.e26121-e26121

2011

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Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.776-782

2011

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Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

PloS one, 2016-08, Vol.11 (8), p.e0161438-e0161438

2016

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Association studies of ERCC1 polymorphisms with lung cancer susceptibility: a systematic review and meta-analysis

PloS one, 2014-05, Vol.9 (5), p.e97616-e97616

2014

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Expression of Foxm1 transcription factor in cardiomyocytes is required for myocardial development

PloS one, 2011-07, Vol.6 (7), p.e22217-e22217

2011

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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

PloS one, 2018-01, Vol.13 (1), p.e0190050-e0190050

2018

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The myotonic dystrophies: molecular, clinical, and therapeutic challenges

A TagSNP in SIRT1 gene confers susceptibility to myocardial infarction in a Chinese Han population

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

Prevalence of Titin Truncating Variants in General Population

Modulation of miRNA expression by dietary polyphenols in apoE deficient mice: a new mechanism of the action of polyphenols

Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness

Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR

A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression

High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1)

Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent

The Brazilian TP53 mutation (R337H) and sarcomas

Pathological molecular mechanism of symptomatic late-onset Fuchs endothelial corneal dystrophy by bioinformatic analysis

Large scale association analysis identifies three susceptibility loci for coronary artery disease

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

Extended RAS and BRAF Mutation Analysis Using Next-Generation Sequencing

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Cross-platform array screening identifies COL1A2, THBS1, TNFRSF10D and UCHL1 as genes frequently silenced by methylation in melanoma

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Association studies of ERCC1 polymorphisms with lung cancer susceptibility: a systematic review and meta-analysis

Expression of Foxm1 transcription factor in cardiomyocytes is required for myocardial development

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

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