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A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus : high-resolution mapping and genomic structure

Journal of molecular medicine (Berlin, Germany), 2000, Vol.78 (1), p.36-46

2000

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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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Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)

Journal of investigative dermatology, 1999-05, Vol.112 (5), p.815-817

1999

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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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Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.528-530

1992

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Genomic Organization and Fine Mapping of the Keratin 2e Gene (KRT2E): K2e V1 Domain Polymorphism and Novel Mutations in Ichthyosis Bullosa of Siemens

Journal of investigative dermatology, 1998-11, Vol.111 (5), p.817-821

1998

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A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 1997-06, Vol.108 (6), p.947-949

1997

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Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa?

Journal of investigative dermatology, 2001-03, Vol.116 (3), p.474-475

2001

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Mapping of epidermolysis bullosa simplex mutation to chromosome 12

American journal of human genetics, 1991-11, Vol.49 (5), p.978-984

1991

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Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

American journal of human genetics, 1997-09, Vol.61 (3), p.611-619

1997

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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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A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

Experimental dermatology, 1999-04, Vol.8 (2), p.109-114

1999

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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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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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Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

Journal of investigative dermatology, 1997-11, Vol.109 (5), p.684-687

1997

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Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

Journal of investigative dermatology, 2001-02, Vol.116 (2), p.339-343

2001

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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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Polymorphism of the Human Genome: Markers for Genetic Linkage Analyses in Heritable Diseases of the Skin

Journal of investigative dermatology, 1992-11, Vol.99 (5), p.519-523

1992

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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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Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 1997-08, Vol.109 (2), p.246-249

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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Molecular Sequence Data
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A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus : high-resolution mapping and genomic structure

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

Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)

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

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

Genomic Organization and Fine Mapping of the Keratin 2e Gene (KRT2E): K2e V1 Domain Polymorphism and Novel Mutations in Ichthyosis Bullosa of Siemens

A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa?

Mapping of epidermolysis bullosa simplex mutation to chromosome 12

Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

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

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

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

Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa

Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Polymorphism of the Human Genome: Markers for Genetic Linkage Analyses in Heritable Diseases of the Skin

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

Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

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

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