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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00095-185

2020

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The role of nickel accumulation and epithelial cell proliferation in orthodontic treatment-induced gingival overgrowth

European journal of orthodontics, 2007-12, Vol.29 (6), p.555-558

2007

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Progress in Heritable Skin Diseases: Translational Implications of Mutation Analysis and Prospects of Molecular Therapies

Acta dermato-venereologica, 2009, Vol.89 (3), p.228-235

UITTO, Jouni

2009

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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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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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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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In This Issue: Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermo- lysis Bullosa – Dominant vs. Recessive

Acta dermato-venereologica, 2011, Vol.91 (3), p.259-261

Uitto, J

2011

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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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Pseudoxanthoma Elasticum—A Connective Tissue Disease or a Metabolic Disorder at the Genome/Environment Interface?

Journal of investigative dermatology, 2004-03, Vol.122 (3), p.ix-x

Uitto, Jouni

2004

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In this Issue. Phenotypic Complexity of Epidermolysis Bullosa: The Paradigm of the Pruriginosa Subtype

Acta dermato-venereologica, 2009, Vol.89 (1), p.4-5

Uitto, J

2009

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Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

Acta dermato-venereologica, 2017-01, Vol.97 (1), p.108-109

2017

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International Centennial Meeting on Pseudoxanthoma Elasticum: Progress in PXE Research

Journal of investigative dermatology, 1998-05, Vol.110 (5), p.840-842

1998

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Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

Journal of investigative dermatology, 1997-12, Vol.109 (6), p.811-814

1997

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Epidermolysis Bullosa: The Expanding Mutation Database

Journal of investigative dermatology, 2004-10, Vol.123 (4), p.xii-xiii

Uitto, Jouni

2004

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Achieving global environmental benefits through local development of clean energy? The case of small hilly hydel in India

Energy policy, 2006-12, Vol.34 (18), p.4069-4080

2006

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Envoplakin and Periplakin, the Paraneoplastic Pemphigus Antigens, are also Recognized by Pemphigus Foliaceus Autoantibodies

Journal of investigative dermatology, 2000-09, Vol.115 (3), p.505-507

2000

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Tissue-Specific Expression of the ABCC6 Gene

Journal of investigative dermatology, 2005-11, Vol.125 (5), p.900-905

2005

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Heterozygosity for Premature Termination Codon Mutations in LAMB3 in Siblings with Non-Lethal Junctional Epidermolysis Bullosa

Journal of investigative dermatology, 1998-12, Vol.111 (6), p.1244-1246

1998

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Interferon-γ Coordinately Upregulates Matrix Metalloprotease (MMP)-1 and MMP-3, But Not Tissue Inhibitor of Metalloproteases (TIMP), Expression in Cultured Keratinocytes

Journal of investigative dermatology, 1995-03, Vol.104 (3), p.384-390

1995

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The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: Summary and Recommendations

Journal of investigative dermatology, 2000-04, Vol.114 (4), p.734-737

2000

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Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa

Journal of investigative dermatology, 1998-05, Vol.110 (5), p.828-831

1998

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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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Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity

Journal of investigative dermatology, 1999-06, Vol.112 (6), p.991-993

1999

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Progress in molecular dermatology

Acta dermato-venereologica, 2001-06, Vol.81 (3), p.161-162

2001

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Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

Journal of general internal medicine : JGIM, 2005-08, Vol.125 (2), p.239-243

2005

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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

The role of nickel accumulation and epithelial cell proliferation in orthodontic treatment-induced gingival overgrowth

Progress in Heritable Skin Diseases: Translational Implications of Mutation Analysis and Prospects of Molecular Therapies

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

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

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

In This Issue: Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermo- lysis Bullosa – Dominant vs. Recessive

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia

Pseudoxanthoma Elasticum—A Connective Tissue Disease or a Metabolic Disorder at the Genome/Environment Interface?

In this Issue. Phenotypic Complexity of Epidermolysis Bullosa: The Paradigm of the Pruriginosa Subtype

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene

International Centennial Meeting on Pseudoxanthoma Elasticum: Progress in PXE Research

Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

Epidermolysis Bullosa: The Expanding Mutation Database

Achieving global environmental benefits through local development of clean energy? The case of small hilly hydel in India

Envoplakin and Periplakin, the Paraneoplastic Pemphigus Antigens, are also Recognized by Pemphigus Foliaceus Autoantibodies

Tissue-Specific Expression of the ABCC6 Gene

Heterozygosity for Premature Termination Codon Mutations in LAMB3 in Siblings with Non-Lethal Junctional Epidermolysis Bullosa

Interferon-γ Coordinately Upregulates Matrix Metalloprotease (MMP)-1 and MMP-3, But Not Tissue Inhibitor of Metalloproteases (TIMP), Expression in Cultured Keratinocytes

The DEBRA International Visioning/Consensus Meeting on Epidermolysis Bullosa: Summary and Recommendations

Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa

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

Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity

Progress in molecular dermatology

Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

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