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Demonstration of Collagenase and Elastase Activities in the Blister Fluids from Bullous Skin Diseases. Comparison Between Dermatitis Herpetiformis and Bullous Pemphigoid

Journal of investigative dermatology, 1983-09, Vol.81 (3), p.261-266

1983

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Enhanced Elastin and Fibrillin Gene Expression in Chronically Photodamaged Skin

Journal of investigative dermatology, 1994-08, Vol.103 (2), p.182-186

1994

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Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Journal of investigative dermatology, 2003-04, Vol.120 (4), p.623-626

2003

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Expression of p53 in normal sun-exposed and protected skin (type IV-V) in different decades of age

Acta dermato-venereologica, 2003, Vol.83 (2), p.98-104

2003

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Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests

Journal of investigative dermatology, 1999-01, Vol.112 (1), p.109-112

1999

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Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

Journal of investigative dermatology, 1997-12, Vol.109 (6), p.811-814

1997

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Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.528-530

1992

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A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 1997-06, Vol.108 (6), p.947-949

1997

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Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

Journal of investigative dermatology, 2000-09, Vol.115 (3), p.493-498

2000

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Mapping of epidermolysis bullosa simplex mutation to chromosome 12

American journal of human genetics, 1991-11, Vol.49 (5), p.978-984

1991

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Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

American journal of human genetics, 1997-09, Vol.61 (3), p.611-619

1997

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A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

Experimental dermatology, 1999-04, Vol.8 (2), p.109-114

1999

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Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa

Journal of investigative dermatology, 1998-09, Vol.111 (3), p.534-537

1998

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Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

Journal of investigative dermatology, 1997-11, Vol.109 (5), p.684-687

1997

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A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

American journal of ophthalmology, 1999-12, Vol.128 (6), p.687-691

1999

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Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Journal of investigative dermatology, 2005-01, Vol.124 (1), p.111-115

2005

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Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

Journal of investigative dermatology, 1997-09, Vol.109 (3), p.390-394

1997

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Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa

Journal of investigative dermatology, 1997-04, Vol.108 (4), p.463-468

1997

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Progressive Nodular Fibrosis of the Skin: Altered Procollagen and Collagenase Expression by Cultured Fibroblasts

Journal of investigative dermatology, 1986-08, Vol.87 (2), p.210-216

1986

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The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Journal of investigative dermatology, 2001-08, Vol.117 (2), p.179-187

2001

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Ultrastructural characteristics of keloid fibroblasts

The American journal of dermatopathology, 1988-12, Vol.10 (6), p.505-508

1988

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Demonstration of Collagenase and Elastase Activities in the Blister Fluids from Bullous Skin Diseases. Comparison Between Dermatitis Herpetiformis and Bullous Pemphigoid

Enhanced Elastin and Fibrillin Gene Expression in Chronically Photodamaged Skin

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Expression of p53 in normal sun-exposed and protected skin (type IV-V) in different decades of age

Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests

Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency

Mapping of epidermolysis bullosa simplex mutation to chromosome 12

Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa

Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa

Progressive Nodular Fibrosis of the Skin: Altered Procollagen and Collagenase Expression by Cultured Fibroblasts

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Ultrastructural characteristics of keloid fibroblasts

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