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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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Identification of a Gene Responsible for Familial Wolff–Parkinson–White Syndrome

The New England journal of medicine, 2001-06, Vol.344 (24), p.1823-1831

2001

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Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early‐stage nonsmall cell lung cancers

Cancer, 2011-02, Vol.117 (3), p.606-617

2011

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Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders

Muscle & nerve, 2010-12, Vol.42 (6), p.856-863

2010

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Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

BMC genomics, 2008-05, Vol.9 (1), p.216-216, Article 216

2008

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Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations

PloS one, 2010-05, Vol.5 (5), p.e10813-e10813

2010

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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Acta neuropathologica, 2010-04, Vol.119 (4), p.465-479

2010

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Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy

The New England journal of medicine, 1998-04, Vol.338 (18), p.1248-1257

1998

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Identification of a Genetic Locus for Familial Atrial Fibrillation

The New England journal of medicine, 1997-03, Vol.336 (13), p.905-911

1997

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Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

Cancer research (Chicago, Ill.), 2005-01, Vol.65 (2), p.427-431

2005

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Molecular signatures of metastasis in head and neck cancer

Head & neck, 2008-10, Vol.30 (10), p.1273-1283

2008

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Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

The American journal of pathology, 2010-12, Vol.177 (6), p.3025-3036

2010

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Brain (London, England : 1878), 2007-06, Vol.130 (6), p.1497-1506

2007

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Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

Neuromuscular disorders : NMD, 2014-03, Vol.24 (3), p.227-240

2014

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Molecular Diagnosis of Myotonic Dystrophy

Current Protocols in Human Genetics, 2016-10, Vol.91 (1), p.9.29.1-9.29.19

2016

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Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers

Human genetics, 2011-12, Vol.130 (6), p.789-794

2011

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The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14

American journal of human genetics, 2000-01, Vol.66 (1), p.148-156

2000

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Genomic Organization and Isoform-Specific Tissue Expression of Human NAPOR (CUGBP2) as a Candidate Gene for Familial Arrhythmogenic Right Ventricular Dysplasia

Genomics (San Diego, Calif.), 2001-06, Vol.74 (3), p.396-401

2001

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Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

Neuropathology and applied neurobiology, 2013-06, Vol.39 (4), p.390-405

2013

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Identification and Characterization of a Novel Gene (C4orf5) Located on Human Chromosome 4q with Specific Expression in Cardiac and Skeletal Muscle

Genomics (San Diego, Calif.), 2000-12, Vol.70 (3), p.347-353

2000

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

Arthritis and rheumatism, 2008-11, Vol.58 (11), p.3627-3631

2008

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Population frequency of myotonic dystrophy

European journal of human genetics : EJHG, 2011-03

2011

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The CCAAT/enhancer binding protein (C/EBP α) gene ( CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP β) gene ( CEBPB) maps to human chromosome 20q13.1

Genomics (San Diego, Calif.), 1992-09, Vol.14 (1), p.12-17

1992

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

Identification of a Gene Responsible for Familial Wolff–Parkinson–White Syndrome

Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early‐stage nonsmall cell lung cancers

Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders

Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy

Identification of a Genetic Locus for Familial Atrial Fibrillation

Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23

Molecular signatures of metastasis in head and neck cancer

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

Molecular Diagnosis of Myotonic Dystrophy

Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers

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

The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14

Genomic Organization and Isoform-Specific Tissue Expression of Human NAPOR (CUGBP2) as a Candidate Gene for Familial Arrhythmogenic Right Ventricular Dysplasia

Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

Identification and Characterization of a Novel Gene (C4orf5) Located on Human Chromosome 4q with Specific Expression in Cardiac and Skeletal Muscle

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

Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Population frequency of myotonic dystrophy

The CCAAT/enhancer binding protein (C/EBP α) gene ( CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP β) gene ( CEBPB) maps to human chromosome 20q13.1

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