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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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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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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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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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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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Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome

American journal of human genetics, 1992-08, Vol.51 (2), p.316-322

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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Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures

Human molecular genetics, 1996-10, Vol.5 (10), p.1559-1566

1996

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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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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

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Molecular Analysis of a Constitutional X-Autosome Translocation in a Female with Muscular Dystrophy

Science (American Association for the Advancement of Science), 1987-09, Vol.237 (4822), p.1620-1624

1987

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Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy

Journal of medical genetics, 1990-07, Vol.27 (7), p.426-432

1990

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PCR-based test for two cystic fibrosis mutations (A455E, 711+1 G→T) common among French Canadians

Clinical chemistry (Baltimore, Md.), 1997-06, Vol.43 (6), p.1083-1084

1997

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Screening of patients with craniosynostosis: Molecular strategy

American journal of medical genetics, 2003-08, Vol.120A (4), p.470-473

2003

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Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study

Muscle & nerve, 1990-05, Vol.13 (5), p.376-380

1990

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Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain

Neuromuscular disorders : NMD, 2000-03, Vol.10 (3), p.187-193

2000

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Alternative splicing regulates the nuclear or cytoplasmic localization of dystrophin Dp71

FEBS letters, 2000-10, Vol.482 (3), p.209-214

2000

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

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

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

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

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

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome

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

Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures

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

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

Molecular Analysis of a Constitutional X-Autosome Translocation in a Female with Muscular Dystrophy

Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy

PCR-based test for two cystic fibrosis mutations (A455E, 711+1 G→T) common among French Canadians

Screening of patients with craniosynostosis: Molecular strategy

Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study

Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain

Alternative splicing regulates the nuclear or cytoplasmic localization of dystrophin Dp71

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