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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652

2006

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa

Gene therapy, 2012-05, Vol.19 (5), p.561-569

2012

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A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Human molecular genetics, 1998-07, Vol.7 (7), p.1143-1148

1998

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Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

American journal of human genetics, 2001-03, Vol.68 (3), p.642-652

2001

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Identification of ABCC6 pseudogenes on human chromosome 16p : implications for mutation detection in pseudoxanthoma elasticum

Human genetics, 2001-09, Vol.109 (3), p.356-365

2001

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The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3

Human genetics, 2000-03, Vol.106 (3), p.321-329

2000

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Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Nature genetics, 1997-06, Vol.16 (2), p.184-187

1997

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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

American journal of human genetics, 2002-05, Vol.70 (5), p.1341-1348

2002

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Dominant Dystrophic Epidermolysis Bullosa: Identification of a Gly → Ser Substitution in the Triple-Helical Domain of Type VII Collagen

Proceedings of the National Academy of Sciences - PNAS, 1994-04, Vol.91 (9), p.3549-3553

1994

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Molecular complexity of the cutaneous basement membrane zone

Molecular biology reports, 1996, Vol.23 (1), p.35-46

1996

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Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

Genomics (San Diego, Calif.), 1994-05, Vol.21 (1), p.169-179

1994

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A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

American journal of human genetics, 2006-10, Vol.79 (4), p.759-764

2006

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Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

American journal of human genetics, 2006-10, Vol.79 (4), p.724-730

2006

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Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

American journal of human genetics, 2003-04, Vol.72 (4), p.998-1004

2003

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Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3390-3400

2021

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Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

Molecular medicine (Cambridge, Mass.), 1996-01, Vol.2 (1), p.59-76

1996

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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

Human genetics, 2002-01, Vol.110 (1), p.41-51

2002

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Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Nature genetics, 1995-09, Vol.11 (1), p.83-86

1995

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Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

Prenatal diagnosis, 2003-06, Vol.23 (6), p.447-456

2003

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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Nature genetics, 1996-05, Vol.13 (1), p.70-77

1996

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Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin

Human gene therapy, 2007-10, Vol.18 (10), p.881

2007

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Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5)

Nature genetics, 1994-03, Vol.6 (3), p.299-304

1994

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Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Nature genetics, 1994-03, Vol.6 (3), p.293-298

1994

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Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

American journal of human genetics, 1997-09, Vol.61 (3), p.599-610

1997

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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa

A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2

Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Identification of ABCC6 pseudogenes on human chromosome 16p : implications for mutation detection in pseudoxanthoma elasticum

The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Dominant Dystrophic Epidermolysis Bullosa: Identification of a Gly → Ser Substitution in the Triple-Helical Domain of Type VII Collagen

Molecular complexity of the cutaneous basement membrane zone

Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized Gene

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Prenatal diagnosis for Epidermolysis bullosa: a study of 144 consecutive pregnancies at risk

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5)

Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

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