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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

American journal of human genetics, 2012-09, Vol.91 (3), p.489-501

2012

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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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Mutation in myosin heavy chain 6 causes atrial septal defect

Nature genetics, 2005-04, Vol.37 (4), p.423-428

2005

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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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Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

Human genetics, 2006-11, Vol.120 (4), p.487-499

2006

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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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Muscleblind-Like Proteins: Similarities and Differences in Normal and Myotonic Dystrophy Muscle

The American journal of pathology, 2009-01, Vol.174 (1), p.216-227

2009

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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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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

American journal of human genetics, 1995-11, Vol.57 (5), p.1028-1036

1995

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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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High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers

Cancer research (Chicago, Ill.), 1996-12, Vol.56 (23), p.5484-5489

1996

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Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Nature genetics, 1997, Vol.15 (1), p.21-29

1997

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

American journal of human genetics, 1993-06, Vol.52 (6), p.1164-1174

1993

Volltextzugriff (PDF)

Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Genomics (San Diego, Calif.), 2000-07, Vol.67 (1), p.92-95

2000

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Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

Genomics (San Diego, Calif.), 1999, Vol.55 (1), p.10-20

1999

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Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

Nature genetics, 1994-04, Vol.6 (4), p.401-404

1994

Volltextzugriff (PDF)

A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

Genomics (San Diego, Calif.), 2000-02, Vol.63 (3), p.425-429

2000

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The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.237-239

1993

Volltextzugriff (PDF)

Genomic organization and transcriptional units at the myotonic dystrophy locus

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.673-679

1993

Volltextzugriff (PDF)

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

American journal of human genetics, 1991-07, Vol.49 (1), p.68-75

1991

Volltextzugriff (PDF)

A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK

Genomics (San Diego, Calif.), 1996-04, Vol.33 (2), p.185-192

1996

Volltextzugriff (PDF)

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

American journal of human genetics, 1996-12, Vol.59 (6), p.1337-1342

1996

Volltextzugriff (PDF)

The Identification of Exons from the MED/PSACH Region of Human Chromosome 19

Genomics (San Diego, Calif.), 1996-03, Vol.32 (2), p.218-224

1996

Volltextzugriff (PDF)

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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

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

Mutation in myosin heavy chain 6 causes atrial septal defect

Alpha-cardiac actin mutations produce atrial septal defects

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts

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

Muscleblind-Like Proteins: Similarities and Differences in Normal and Myotonic Dystrophy Muscle

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

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

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

High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers

Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

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

Virtual Cloning and Physical Mapping of a Human T-Box Gene, TBX4

Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family : EOMES, TBX6, TBX18, and TBX19

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

A Transcript Map of a 10-Mb Region of Chromosome 19: A Source of Genes for Human Disorders, Including Candidates for Genes Involved in Asthma, Heart Defects, and Eye Development

The Amyloid Precursor-like Protein (APLP) Gene Maps to the Long Arm of Human Chromosome 19

Genomic organization and transcriptional units at the myotonic dystrophy locus

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker

A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene

The Identification of Exons from the MED/PSACH Region of Human Chromosome 19

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