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Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Journal of investigative dermatology, 1999-09, Vol.113 (3), p.314-321

1999

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Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 1999-06, Vol.112 (6), p.984-987

1999

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Loricrin Mutation in Vohwinkel’s Keratoderma Is Unique to the Variant with Ichthyosis

Journal of investigative dermatology, 1997-10, Vol.109 (4), p.604-610

1997

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Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa

Journal of investigative dermatology, 1998-02, Vol.110 (2), p.132-137

1998

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Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)

Journal of investigative dermatology, 1998-11, Vol.111 (5), p.893-895

1998

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Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

Journal of investigative dermatology, 1991-12, Vol.97 (6), p.959-968

1991

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Structural Variations in Anchoring Fibrils in Dystrophic Epidermolysis Bullosa: Correlation with Type VII Collagen Expression

Journal of investigative dermatology, 1993-04, Vol.100 (4), p.366-372

1993

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Hemidesmosome Heterogeneity in Junctional Epidermolysis Bullosa Revealed by Morphometric Analysis

Journal of investigative dermatology, 1986-01, Vol.86 (1), p.51-56

1986

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Ultrastructural Morphometry of Normal Human Dermal-Epidermal Junction. The Influence of Age, Sex, and Body Region on Laminar and Nonlaminar Components

Journal of investigative dermatology, 1984-12, Vol.83 (6), p.448-453

1984

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Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

Journal of investigative dermatology, 1986-05, Vol.86 (5), p.603-605

1986

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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome

Journal of investigative dermatology, 2004-01, Vol.122 (1), p.78-83

2004

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Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

Journal of investigative dermatology, 2003-07, Vol.121 (1), p.96-103

2003

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Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique

Journal of investigative dermatology, 1985-05, Vol.84 (5), p.374-377

1985

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Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)

Journal of investigative dermatology, 1992-07, Vol.99 (1), p.19-26

1992

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Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 1996-08, Vol.107 (2), p.171-177

1996

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Prenatal Diagnosis of Dominant and Recessive Dystrophic Epidermolysis Bullosa: Application and Limitations in the Use of KF-1 and LH 7:2 Monoclonal Antibodies and Immunofluorescence Mapping Technique

Journal of investigative dermatology, 1988-11, Vol.91 (5), p.465-471

1988

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Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

Loricrin Mutation in Vohwinkel’s Keratoderma Is Unique to the Variant with Ichthyosis

Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

Structural Variations in Anchoring Fibrils in Dystrophic Epidermolysis Bullosa: Correlation with Type VII Collagen Expression

Hemidesmosome Heterogeneity in Junctional Epidermolysis Bullosa Revealed by Morphometric Analysis

Ultrastructural Morphometry of Normal Human Dermal-Epidermal Junction. The Influence of Age, Sex, and Body Region on Laminar and Nonlaminar Components

Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome

Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

Evaluation of Anchoring Fibrils and Other Components of the Dermal-Epidermal Junction in Dystrophic Epidermolysis Bullosa by a Quantitative Ultrastructural Technique

Selective Involvement of Keratins K1 and K10 in the Cytoskeletal Abnormality of Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)

Clinicopathological Correlations of Compound Heterozygous COL7A1 Mutations in Recessive Dystrophic Epidermolysis Bullosa

Prenatal Diagnosis of Dominant and Recessive Dystrophic Epidermolysis Bullosa: Application and Limitations in the Use of KF-1 and LH 7:2 Monoclonal Antibodies and Immunofluorescence Mapping Technique

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