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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Journal of the American Academy of Dermatology, 2008-06, Vol.58 (6), p.931-950

2008

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A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

American journal of human genetics, 2006-01, Vol.78 (1), p.160-166

2006

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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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Transmission Electron Microscopy for the Diagnosis of Epidermolysis Bullosa

Dermatologic clinics, 2010-04, Vol.28 (2), p.211-222

2010

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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome

Journal of investigative dermatology, 2004-01, Vol.122 (1), p.78-83

2004

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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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Discovery of Basement Membrane Zone Ultrastructural Entities by Electron Microscopy

Journal of investigative dermatology, 2008-03, Vol.128 (E2), p.E1-E2

Eady, Robin A.J.

2008

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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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Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

Journal of investigative dermatology, 2003-07, Vol.121 (1), p.96-103

2003

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Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin-Mediated Compaction and Keratin 1 Deimination

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.282-287

2002

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Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.232-238

2002

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Desmosomal proteins, including desmoglein 3, serve as novel negative markers for epidermal stem cell-containing population of keratinocytes

Journal of cell science, 2003-10, Vol.116 (Pt 20), p.4239-4248

2003

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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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Efficacy and safety of endoscopic dilation of esophageal strictures in epidermolysis bullosa

Gastrointestinal endoscopy, 2004, Vol.59 (1), p.28-32

2004

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An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Human molecular genetics, 2003-09, Vol.12 (18), p.2395-2409

2003

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Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Journal of investigative dermatology, 2000-09, Vol.115 (3), p.368-374

2000

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Survival is not enough: reflections of a long-term renal patient

Journal of nephrology, 2008-03, Vol.21 Suppl 13, p.S3-S6

Eady, Robin A J

2008

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Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Journal of investigative dermatology, 2002-05, Vol.118 (5), p.838-844

2002

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Reduced Expression of Insulin-Like Growth Factor-Binding Protein-3 (IGFBP-3) in Squamous Cell Carcinoma Complicating Recessive Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2004-05, Vol.122 (5), p.1302-1309

2004

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Changes in Gap Junction Distribution and Connexin Expression Pattern During Human Fetal Skin Development

The journal of histochemistry and cytochemistry, 2002-11, Vol.50 (11), p.1493-1500

2002

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Epidermolysis Bullosa: Scientific Advances and Therapeutic Challenges

Journal of dermatology, 2001-11, Vol.28 (11), p.638-640

Eady, Robin A.J.

2001

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A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Prenatal diagnosis, 2001-06, Vol.21 (6), p.490-497

2001

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Desmosomes exhibit site-specific features in human palm skin

Experimental dermatology, 2003-08, Vol.12 (4), p.378-388

2003

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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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Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

A Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

Transmission Electron Microscopy for the Diagnosis of Epidermolysis Bullosa

Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome

Haploinsufficiency of Desmoplakin Causes a Striate Subtype of Palmoplantar Keratoderma

Discovery of Basement Membrane Zone Ultrastructural Entities by Electron Microscopy

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

Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

Sequential Reorganization of Cornified Cell Keratin Filaments Involving Filaggrin-Mediated Compaction and Keratin 1 Deimination

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Desmosomal proteins, including desmoglein 3, serve as novel negative markers for epidermal stem cell-containing population of keratinocytes

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

Efficacy and safety of endoscopic dilation of esophageal strictures in epidermolysis bullosa

An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Survival is not enough: reflections of a long-term renal patient

Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma

Reduced Expression of Insulin-Like Growth Factor-Binding Protein-3 (IGFBP-3) in Squamous Cell Carcinoma Complicating Recessive Dystrophic Epidermolysis Bullosa

Changes in Gap Junction Distribution and Connexin Expression Pattern During Human Fetal Skin Development

Epidermolysis Bullosa: Scientific Advances and Therapeutic Challenges

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Desmosomes exhibit site-specific features in human palm skin

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

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