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Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2008-09, Vol.128 (9), p.2179-2189

2008

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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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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.709-711

2010

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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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Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

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

1999

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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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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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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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Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

Journal of dermatological science, 2006-10, Vol.44 (1), p.48-51

2006

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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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Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities

Journal of investigative dermatology, 2006-09, Vol.126 (9), p.2039-2043

2006

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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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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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Desmosomes exhibit site-specific features in human palm skin

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

2003

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A functional "knockout" of human keratin 14

Genes & development, 1994-11, Vol.8 (21), p.2563-2573

1994

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The composition of wide-spaced collagen in normal and diseased Descemet's membrane

Current eye research, 1996, Vol.15 (1), p.45-52

1996

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Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)

Journal of investigative dermatology, 1994-01, Vol.102 (1), p.24-30

1994

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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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Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

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

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Transmission Electron Microscopy for the Diagnosis of Epidermolysis Bullosa

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

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

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

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

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

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

Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities

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

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

Desmosomes exhibit site-specific features in human palm skin

A functional "knockout" of human keratin 14

The composition of wide-spaced collagen in normal and diseased Descemet's membrane

Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)

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

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