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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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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

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

2007

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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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Retrospective diagnosis of Kindler syndrome in a 37-year-old man

Clinical and experimental dermatology, 2006-01, Vol.31 (1), p.45-47

2006

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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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Pustular psoriasis of pregnancy treated with ciclosporin and high-dose prednisolone

Clinical and experimental dermatology, 2005-11, Vol.30 (6), p.709-710

2005

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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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Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

Clinical and experimental dermatology, 2001-01, Vol.26 (1), p.97-99

2001

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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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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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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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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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The management of dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 1995-05, Vol.20 (3), p.179-188

1995

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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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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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Altered distribution of keratinization markers in epidermolytic hyperkeratosis

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

1995

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

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma

Retrospective diagnosis of Kindler syndrome in a 37-year-old man

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

Pustular psoriasis of pregnancy treated with ciclosporin and high-dose prednisolone

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

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

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

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

The eye in dystrophic epidermolysis bullosa: Clinical and immunopathological findings

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

The management of dystrophic epidermolysis bullosa

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

Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

Altered distribution of keratinization markers in epidermolytic hyperkeratosis

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)

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