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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Muscle & nerve, 2007-01, Vol.35 (1), p.24-35

2007

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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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Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

British journal of dermatology (1951), 2009-09, Vol.161 (3), p.692-694

2009

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Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network

British journal of dermatology (1951), 2004-05, Vol.150 (5), p.878-891

2004

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EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

British journal of dermatology (1951), 2002-02, Vol.146 (2), p.216-220

2002

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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

British journal of dermatology (1951), 2001-08, Vol.145 (2), p.330-335

2001

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Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy

British journal of dermatology (1951), 1999-09, Vol.141 (3), p.475-480

1999

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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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Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases

Journal of cutaneous pathology, 1992-04, Vol.19 (2), p.116-123

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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Morphology of the keratin filament network in palm and sole skin : evidence for site-dependent features based on stereological analysis

Archives of Dermatological Research, 1996-02, Vol.288 (2), p.55-62

1996

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A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

Experimental dermatology, 1999-02, Vol.8 (1), p.22-29

1999

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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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Altered distribution of keratinization markers in epidermolytic hyperkeratosis

Archives of Dermatological Research, 1995, Vol.287 (8), p.705-711

1995

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Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, 2004-09, Vol.18 (5), p.521-526

2004

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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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Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features

British journal of dermatology (1951), 1994-05, Vol.130 (5), p.617-625

1994

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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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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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Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

British journal of dermatology (1951), 1999-04, Vol.140 (4), p.689-695

1999

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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

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

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy

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

Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases

The eye in dystrophic epidermolysis bullosa: Clinical and immunopathological findings

Morphology of the keratin filament network in palm and sole skin : evidence for site-dependent features based on stereological analysis

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

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

Altered distribution of keratinization markers in epidermolytic hyperkeratosis

Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

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

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features

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

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

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

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