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Cloning of Partial cDNA for Mouse 180-kDa Bullous Pemphigoid Antigen (BPAG2), a Highly Conserved Collagenous Protein of the Cutaneous Basement Membrane Zone

Journal of investigative dermatology, 1992-09, Vol.99 (3), p.258-263

1992

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A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin

Journal of investigative dermatology, 1997-09, Vol.109 (3), p.384-389

1997

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Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Journal of investigative dermatology, 2003-04, Vol.120 (4), p.623-626

2003

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The Members of the Plakin Family of Proteins Recognized by Paraneoplastic Pemphigus Antibodies Include Periplakin

Journal of investigative dermatology, 1998-08, Vol.111 (2), p.308-313

1998

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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Nature genetics, 1996-05, Vol.13 (1), p.70-77

1996

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Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Nature genetics, 1997-06, Vol.16 (2), p.184-187

1997

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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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Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa

Journal of investigative dermatology, 1998-09, Vol.111 (3), p.534-537

1998

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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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Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Journal of investigative dermatology, 2005-01, Vol.124 (1), p.111-115

2005

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Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy

Journal of investigative dermatology, 1997-08, Vol.109 (2), p.232-237

1997

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Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

Journal of investigative dermatology, 1997-09, Vol.109 (3), p.390-394

1997

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Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa

Journal of investigative dermatology, 1997-04, Vol.108 (4), p.463-468

1997

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Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes

Journal of investigative dermatology, 2002-09, Vol.119 (3), p.692-698

2002

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The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Journal of investigative dermatology, 2001-08, Vol.117 (2), p.179-187

2001

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Cloning of Partial cDNA for Mouse 180-kDa Bullous Pemphigoid Antigen (BPAG2), a Highly Conserved Collagenous Protein of the Cutaneous Basement Membrane Zone

A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

The Members of the Plakin Family of Proteins Recognized by Paraneoplastic Pemphigus Antibodies Include Periplakin

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

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

Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy

Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa

Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

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