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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

Journal of neurology, 2022-05, Vol.269 (5), p.2784-2787

2022

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The impact of mechanical forces in heart morphogenesis

Circulation. Cardiovascular genetics, 2012-02, Vol.5 (1), p.132

2012

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α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Human molecular genetics, 2010-10, Vol.19 (20), p.4007-4016

2010

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Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

Genes to cells : devoted to molecular & cellular mechanisms, 2007-09, Vol.12 (9), p.1035-1048

2007

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T-box genes in human disorders

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R37-R44

2003

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Human molecular genetics, 2016-06, Vol.25 (11), p.2331-2341

2016

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Alpha-cardiac actin mutations produce atrial septal defects

Human molecular genetics, 2008-01, Vol.17 (2), p.256-265

2008

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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Congenital heart disease, 2012-03, Vol.7 (2), p.151-159

2012

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Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Journal of anatomy, 2024-07, Vol.245 (1), p.70-83

2024

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High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

Human molecular genetics, 2014-03, Vol.23 (6), p.1551-1562

2014

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

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

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Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

Human molecular genetics, 2002-04, Vol.11 (7), p.805-814

2002

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In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Nucleic acids research, 2001-07, Vol.29 (13), p.2766

2001

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Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Circulation. Cardiovascular genetics, 2013-08, Vol.6 (4), p.347

2013

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

Nature (London), 1994-12, Vol.372 (6506), p.525-530

1994

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Myotonic Dystrophy Is Associated with a Reduced Level of RNA from the DMWD Allele Adjacent to the Expanded Repeat

Human molecular genetics, 1999-08, Vol.8 (8), p.1491-1497

1999

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CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1

Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.e1-e1

2016

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Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

Journal of medical genetics, 1999-01, Vol.36 (1), p.59-61

1999

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Non-motor outcomes depend on location of neurostimulation in Parkinson's disease

Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3592-3604

2019

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Beneficial effect of 24-month bilateral subthalamic stimulation on quality of sleep in Parkinson’s disease

Journal of neurology, 2020-06, Vol.267 (6), p.1830-1841

2020

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Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

Human molecular genetics, 2001-09, Vol.10 (18), p.1983-1994

2001

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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

The impact of mechanical forces in heart morphogenesis

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles

T-box genes in human disorders

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

Alpha-cardiac actin mutations produce atrial septal defects

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

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

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene

Myotonic Dystrophy Is Associated with a Reduced Level of RNA from the DMWD Allele Adjacent to the Expanded Repeat

CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

Non-motor outcomes depend on location of neurostimulation in Parkinson's disease

Beneficial effect of 24-month bilateral subthalamic stimulation on quality of sleep in Parkinson’s disease

Whole Exome Sequencing Reveals the Major Genetic Contributors to Non-Syndromic Tetralogy of Fallot

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

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