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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Experimental dermatology, 2002-04, Vol.11 (2), p.107-114

2002

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Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

Journal of cutaneous pathology, 1992-10, Vol.19 (5), p.385-389

1992

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The eye in dystrophic epidermolysis bullosa: Clinical and immunopathological findings

Eye (London), 1989-01, Vol.3 (1), p.79-83

1989

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Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

British journal of dermatology (1951), 1998-11, Vol.139 (5), p.767-775

1998

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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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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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A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

British journal of dermatology (1951), 1998-10, Vol.139 (4), p.730-737

1998

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Human dermal microvasculature: I. Its segmental differentiation. Light and electron microscopic study

British journal of dermatology (1951), 1981-02, Vol.104 (2), p.117-129

1981

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Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa

Journal of the American Academy of Dermatology, 1993-09, Vol.29 (3), p.407-419

1993

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The prevalence of epidermolysis bullosa in Scotland

British journal of dermatology (1951), 1997-04, Vol.136 (4), p.560-564

1997

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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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Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa

British journal of dermatology (1951), 1985-12, Vol.113 (6), p.651-659

1985

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Endothelial cell pathology as a marker for urticarial vasculitis: a light microscopic study

British journal of dermatology (1951), 1984-02, Vol.110 (2), p.139-149

1984

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Structural and functional properties of the dermoepidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa

Archives of dermatology (1960), 1986-03, Vol.122 (3), p.278

1986

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A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

American journal of human genetics, 2006-01, Vol.78 (1), p.160-166

2006

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Variation in gene expression profiles of peripheral blood mononuclear cells from healthy volunteers

Physiological genomics, 2005-08, Vol.22 (3), p.402-411

2005

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Health care-associated invasive MRSA infections, 2005-2008

JAMA : the journal of the American Medical Association, 2010-08, Vol.304 (6), p.641

2010

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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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Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters

British journal of dermatology (1951), 1984-10, Vol.111 (4), p.379-387

1984

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Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

The eye in dystrophic epidermolysis bullosa: Clinical and immunopathological findings

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

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

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

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

Human dermal microvasculature: I. Its segmental differentiation. Light and electron microscopic study

Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa

The prevalence of epidermolysis bullosa in Scotland

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

Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa

Endothelial cell pathology as a marker for urticarial vasculitis: a light microscopic study

Structural and functional properties of the dermoepidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa

A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Variation in gene expression profiles of peripheral blood mononuclear cells from healthy volunteers

Health care-associated invasive MRSA infections, 2005-2008

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

Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters

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