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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Experimental dermatology, 2009-01, Vol.18 (1), p.1-11

2009

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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652

2006

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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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Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

Experimental dermatology, 2005-04, Vol.14 (4), p.241-249

2005

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Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Experimental dermatology, 2008-03, Vol.17 (3), p.203-207

2008

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Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome

British journal of dermatology (1951), 2003-10, Vol.149 (4), p.850-852

2003

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Molecular basis for the dystrophic forms of epidermolysis bullosa : mutations in the type VII collagen gene

Archives of Dermatological Research, 1994-12, Vol.287 (1), p.16-22

1994

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Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

Experimental dermatology, 1999-04, Vol.8 (2), p.92-95

Uitto, J.

1999

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The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Journal of allergy and clinical immunology, 2012-08, Vol.130 (2), p.427-434.e6

2012

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Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women

International journal of epidemiology, 2014-02, Vol.43 (1), p.255-263

2014

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Heritability of responses to painful stimuli in women: a classical twin study

Brain (London, England : 1878), 2007-11, Vol.130 (11), p.3041-3049

2007

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Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

Genomics (San Diego, Calif.), 2004-03, Vol.83 (3), p.461-472

2004

Volltextzugriff (PDF)

A Major Quantitative-Trait Locus for Mole Density Is Linked to the Familial Melanoma Gene CDKN2A: A Maximum-Likelihood Combined Linkage and Association Analysis in Twins and Their Sibs

American journal of human genetics, 1999-08, Vol.65 (2), p.483-492

1999

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Molecular genetics of pseudoxanthoma elasticum

Experimental dermatology, 2001-08, Vol.10 (4), p.221-228

2001

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A Genomewide Search for Quantitative-Trait Loci Underlying Asthma

American journal of human genetics, 2001-12, Vol.69 (6), p.1271-1277

2001

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Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse

Carcinogenesis (New York), 1998-02, Vol.19 (2), p.337-346

1998

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Systemic sclerosis and lupus: Points in an interferon‐mediated continuum

Arthritis and rheumatism, 2010-02, Vol.62 (2), p.589-598

2010

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Genetics of chemical carcinogenesis: Analysis of bidirectional selective breeding inducing maximal resistance or maximal susceptibility to 2‐stage skin tumorigenesis in the mouse

International journal of cancer, 2000-11, Vol.88 (3), p.424-431

2000

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Familial prostate cancer from the Family-Cancer Database

European journal of cancer (1990), 2000-01, Vol.36 (2), p.229-234

2000

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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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Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.1114-1118

1999

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Intracellular Accumulation of Collagen VII in Cultured Keratinocytes from a Patient with Dominant Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 1994-01, Vol.102 (1), p.105-110

1994

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Childhood porphyrias: implications and treatments

Clinical chemistry (Baltimore, Md.), 1993-06, Vol.39 (6), p.1334

1993

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Relation of N-glycosylation of apolipoprotein B-100 to cellular metabolism of low density lipoprotein

Atherosclerosis, 1994-07, Vol.108 (1), p.91-102

1994

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

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

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome

Molecular basis for the dystrophic forms of epidermolysis bullosa : mutations in the type VII collagen gene

Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women

Heritability of responses to painful stimuli in women: a classical twin study

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

A Major Quantitative-Trait Locus for Mole Density Is Linked to the Familial Melanoma Gene CDKN2A: A Maximum-Likelihood Combined Linkage and Association Analysis in Twins and Their Sibs

Molecular genetics of pseudoxanthoma elasticum

A Genomewide Search for Quantitative-Trait Loci Underlying Asthma

Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse

Systemic sclerosis and lupus: Points in an interferon‐mediated continuum

Genetics of chemical carcinogenesis: Analysis of bidirectional selective breeding inducing maximal resistance or maximal susceptibility to 2‐stage skin tumorigenesis in the mouse

Familial prostate cancer from the Family-Cancer Database

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

Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa

Intracellular Accumulation of Collagen VII in Cultured Keratinocytes from a Patient with Dominant Dystrophic Epidermolysis Bullosa

Childhood porphyrias: implications and treatments

Relation of N-glycosylation of apolipoprotein B-100 to cellular metabolism of low density lipoprotein

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