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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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A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

Nature (London), 1992-03, Vol.356 (6366), p.244-246

1992

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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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Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

British journal of dermatology (1951), 2006-01, Vol.154 (1), p.106-113

2006

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Psoriasis bullosa acquisita

Clinical and experimental dermatology, 2002-11, Vol.27 (8), p.665-669

2002

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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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Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

British journal of dermatology (1951), 2003-10, Vol.149 (4), p.810-818

2003

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Gap junction development in the human fetal hair follicle and bulge region

British journal of dermatology (1951), 2004-03, Vol.150 (3), p.429-434

2004

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Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy

Archives of Dermatological Research, 1989, Vol.281 (7), p.443-448

1989

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Loricrin immunoreactivity in human skin : localization to specific granules (L-granules) in acrosyringia

Archives of Dermatological Research, 1993-11, Vol.285 (8), p.491-498

1993

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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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Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa

Journal of the American Academy of Dermatology, 2000-06, Vol.42 (6), p.1051-1066

2000

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Nature genetics, 1997-10, Vol.17 (2), p.240-244

1997

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Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma

Human molecular genetics, 1999-01, Vol.8 (1), p.143-148

1999

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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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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Nature genetics, 1995-09, Vol.11 (1), p.83-86

1995

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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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Genomic organization and amplification of the human plakoglobin gene (JUP)

Experimental dermatology, 2000-10, Vol.9 (5), p.323-326

2000

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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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Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa

British journal of dermatology (1951), 1998-04, Vol.138 (4), p.661-666

1998

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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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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

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

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

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

Psoriasis bullosa acquisita

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

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

Gap junction development in the human fetal hair follicle and bulge region

Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immunoelectron microscopy

Loricrin immunoreactivity in human skin : localization to specific granules (L-granules) in acrosyringia

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

Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma

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

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

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

Genomic organization and amplification of the human plakoglobin gene (JUP)

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

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa

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

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