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Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

Journal of intellectual disability research, 2012-06, Vol.56 (6), p.641-651

2012

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Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

Clinical genetics, 2011-11, Vol.80 (5), p.466-471

2011

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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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The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

Clinical genetics, 2008-09, Vol.74 (3), p.213-222

2008

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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

Neurogenetics, 2013-11, Vol.14 (3-4), p.181-188

2013

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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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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

American journal of human genetics, 1997-06, Vol.60 (6), p.1411-1422

1997

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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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A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

Journal of medical genetics, 2001-06, Vol.38 (6), p.409-411

2001

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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

Human molecular genetics, 2001-12, Vol.10 (26), p.2989-3000

2001

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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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Monozygotic twins discordant for Aicardi syndrome

Journal of medical genetics, 1997-08, Vol.34 (8), p.688-691

1997

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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

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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Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) : evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

American journal of human genetics, 1992-05, Vol.50 (5), p.950-959

1992

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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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X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred

Journal of medical genetics, 1996-10, Vol.33 (10), p.823-828

1996

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New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome

Cytogenetic and genome research, 2006-03, Vol.113 (1-4), p.313-317

2006

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Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

Ophthalmology (Rochester, Minn.), 1994-05, Vol.101 (5), p.856-865

1994

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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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Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

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

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

A novel dystrophin isoform is required for normal retinal electrophysiology

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

Cloning and characterization of alternatively spliced isoforms of Dp71

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

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

Monozygotic twins discordant for Aicardi syndrome

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

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD) : evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

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

X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome

Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

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

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