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Direct-to-consumer genetic testing: good, bad or benign?

Clinical genetics, 2010-02, Vol.77 (2), p.101-105

2010

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A novel dystrophin isoform is required for normal retinal electrophysiology

Human molecular genetics, 1995-05, Vol.4 (5), p.837-842

1995

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Cloning and characterization of alternatively spliced isoforms of Dp71

Human molecular genetics, 1995-09, Vol.4 (9), p.1475-1483

1995

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Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation

The American journal of pathology, 1989-07, Vol.135 (1), p.27-32

1989

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Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

Human genetics, 1999-07, Vol.105 (1-2), p.2-9

1999

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Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

Science (American Association for the Advancement of Science), 1988-11, Vol.242 (4879), p.755-759

1988

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Localization of Dystrophin Isoform Dp71 to the Inner Limiting Membrane of the Retina Suggests a Unique Functional Contribution of Dp71 in the Retina

Human molecular genetics, 1998-09, Vol.7 (9), p.1385-1391

1998

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Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

Molecular and Cellular Biology, 1990-01, Vol.10 (1), p.193-205

1990

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Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease

Neurology, 1998-09, Vol.51 (3), p.873-875

1998

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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation

American journal of human genetics, 1990-04, Vol.46 (4), p.682-695

1990

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Isolation of human cDNAs for asparagine synthetase and expression in Jensen rat sarcoma cells

Molecular and Cellular Biology, 1987-07, Vol.7 (7), p.2435-2443

1987

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Dystrophin isoforms Dp71 and Dp427 have distinct roles in myogenic cells

Muscle & nerve, 1999-01, Vol.22 (1), p.16-27

1999

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Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

Human molecular genetics, 1993-06, Vol.2 (6), p.737-744

1993

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Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

The EMBO journal, 1991-09, Vol.10 (9), p.2471-2477

1991

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Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

American journal of human genetics, 1989-10, Vol.45 (4), p.507-520

1989

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Dystrophin in frameshift deletion patients with Becker muscular dystrophy

American journal of human genetics, 1992-09, Vol.51 (3), p.562-570

1992

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Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

Nature (London), 1985-01, Vol.318 (6047), p.672-675

1985

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Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter

American journal of human genetics, 1992-08, Vol.51 (2), p.411-415

1992

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A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs

Nucleic acids research, 1997-04, Vol.25 (8), p.1618-1625

1997

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Identification of a Transcriptional Enhancer Within Muscle Intron 1 of the Human Dystrophin Gene

Human molecular genetics, 1996-10, Vol.5 (10), p.1599-1606

1996

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Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

American journal of medical genetics, 2004-01, Vol.124A (2), p.142-147

2004

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Partial gene duplication in Duchenne and Becker muscular dystrophies

Journal of medical genetics, 1988-06, Vol.25 (6), p.369-376

1988

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Human Ribosomal RNA Genes: Orientation of the Tandem Array and Conservation of the 5$^{\prime}$ End

Science (American Association for the Advancement of Science), 1988-01, Vol.239 (4835), p.64-68

1988

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Point mutation in the human dystrophin gene: Identification through Western blot analysis

Genomics (San Diego, Calif.), 1991-06, Vol.10 (2), p.457-460

1991

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Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyases

The Journal of biological chemistry, 1990-10, Vol.265 (30), p.18192-18199

1990

Volltextzugriff (PDF)

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Direct-to-consumer genetic testing: good, bad or benign?

A novel dystrophin isoform is required for normal retinal electrophysiology

Cloning and characterization of alternatively spliced isoforms of Dp71

Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

Localization of Dystrophin Isoform Dp71 to the Inner Limiting Membrane of the Retina Suggests a Unique Functional Contribution of Dp71 in the Retina

Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene

Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation

Isolation of human cDNAs for asparagine synthetase and expression in Jensen rat sarcoma cells

Dystrophin isoforms Dp71 and Dp427 have distinct roles in myogenic cells

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

Dystrophin in frameshift deletion patients with Becker muscular dystrophy

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter

A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs

Identification of a Transcriptional Enhancer Within Muscle Intron 1 of the Human Dystrophin Gene

Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

Partial gene duplication in Duchenne and Becker muscular dystrophies

Human Ribosomal RNA Genes: Orientation of the Tandem Array and Conservation of the 5$^{\prime}$ End

Point mutation in the human dystrophin gene: Identification through Western blot analysis

Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyases

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