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Autosomal dominant junctional epidermolysis bullosa

British journal of dermatology (1951), 2009-05, Vol.160 (5), p.1094-1097

2009

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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

Journal of medical genetics, 2011-03, Vol.48 (3), p.160-167

2011

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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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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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Transient bullous dermolysis of the newborn in three generations

British journal of dermatology (1951), 2005-11, Vol.153 (5), p.1058-1063

2005

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Nature genetics, 1995-03, Vol.9 (3), p.273-278

1995

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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.940-946

1999

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Transient bullous dermolysis of the newborn in three generations

British journal of dermatology (1951), 2005-11, Vol.153 (5), p.1058-1063

2005

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Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

British journal of dermatology (1951), 1999-02, Vol.140 (2), p.297-307

1999

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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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Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)

Journal of investigative dermatology, 1994, Vol.102 (1), p.24-30

1994

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Descemet's membrane in the iridocorneal-endothelial syndrome: Morphology and composition

Experimental eye research, 1995-09, Vol.61 (3), p.323-333

1995

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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

American journal of human genetics, 2005-05, Vol.76 (5), p.794-803

2005

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Twenty-five years' experience of prenatal diagnosis for severe inherited skin disorders

British journal of dermatology (1951), 2004-07, Vol.151, p.11

2004

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LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum

Journal of investigative dermatology, 2005-02, Vol.124 (2), p.360-366

2005

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Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

Acta dermato-venereologica, 2011-05, Vol.91 (3), p.262-266

2011

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Expression in Yeast of Amino-Terminal Peptide Fusions to Hepatitis B Core Antigen and Their Immunological Properties

Bio/technology (New York, N.Y. 1983), 1990-07, Vol.8 (7), p.644-649

1990

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Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Journal of investigative dermatology, 2010-06, Vol.130 (6), p.1543-1550

2010

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Human molecular genetics, 2002-04, Vol.11 (7), p.833-840

2002

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Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

Journal of cell science, 2003-08, Vol.116 (Pt 16), p.3303-3314

2003

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Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

British journal of dermatology (1951), 2012-04, Vol.166 (4), p.894-896

2012

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Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.197-203

2001

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Limitation of substratum size alters cytoskeletal organization and behaviour of Swiss 3T3 fibroblasts

Cell biology international reports, 1989-09, Vol.13 (9), p.781-790

1989

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Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Journal of investigative dermatology, 2001-04, Vol.116 (4), p.606-609

2001

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Neonatal diagnosis of Kindler syndrome

Journal of dermatological science, 2005-09, Vol.39 (3), p.183-185

2005

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Autosomal dominant junctional epidermolysis bullosa

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

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

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

Transient bullous dermolysis of the newborn in three generations

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Transient bullous dermolysis of the newborn in three generations

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

Loricrin Mutation in Vohwinkel’s Keratoderma Is Unique to the Variant with Ichthyosis

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)

Descemet's membrane in the iridocorneal-endothelial syndrome: Morphology and composition

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

Twenty-five years' experience of prenatal diagnosis for severe inherited skin disorders

LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum

Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

Expression in Yeast of Amino-Terminal Peptide Fusions to Hepatitis B Core Antigen and Their Immunological Properties

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

Limitation of substratum size alters cytoskeletal organization and behaviour of Swiss 3T3 fibroblasts

Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Neonatal diagnosis of Kindler syndrome

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