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Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians

Journal of the American Academy of Dermatology, 2023-09, Vol.89 (3), p.569-576

2023

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Epidermolysis Bullosa with Pyloric Atresia

Dermatologic clinics, 2010, Vol.28 (1), p.43-54

2010

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The mineralization phenotype in Abcc6−/− mice is affected by Ggcx gene deficiency and genetic background—a model for pseudoxanthoma elasticum

Journal of molecular medicine (Berlin, Germany), 2010-02, Vol.88 (2), p.173-181

2010

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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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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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Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

Matrix biology, 2018-10, Vol.71-72, p.313-329

2018

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Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Human molecular genetics, 2019-09, Vol.28 (18), p.3148-3160

2019

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Phenome-wide heritability analysis of the UK Biobank

PLoS genetics, 2017-04, Vol.13 (4), p.e1006711-e1006711

2017

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Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa

Matrix biology, 2017-01, Vol.57-58 (1), p.76-85

2017

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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Matrix biology, 2018-09, Vol.70, p.72-83

2018

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Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

PLoS genetics, 2010-09, Vol.6 (9), p.e1001139-e1001139

2010

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Connective tissue disorders and eye: A review and recent updates

Indian journal of ophthalmology, 2023-06, Vol.71 (6), p.2385-2398

2023

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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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Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

Archives of Dermatological Research, 2019-05, Vol.311 (4), p.265-275

2019

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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Matrix biology, 2021-05, Vol.99, p.43-57

2021

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Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification

Matrix biology, 2014-01, Vol.33, p.23-28

2014

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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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Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes

PloS one, 2019-09, Vol.14 (9), p.e0217189

2019

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Indirect genetic effects and housing conditions in relation to aggressive behaviour in pigs

PloS one, 2013-06, Vol.8 (6), p.e65136

2013

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Suitability of traits related to aggression and handleability for integration into pig breeding programmes: Genetic parameters and comparison between Gaussian and binary trait specifications

PloS one, 2018-12, Vol.13 (12), p.e0204211-e0204211

2018

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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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Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Nature genetics, 2008-11, Vol.40 (11), p.1313-1318

2008

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Type VII Collagen: The Anchoring Fibril Protein at Fault in Dystrophic Epidermolysis Bullosa

Dermatologic clinics, 2010, Vol.28 (1), p.93-105

2010

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The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population

PloS one, 2014-08, Vol.9 (8), p.e104367-e104367

2014

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A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization

PloS one, 2014-05, Vol.9 (5), p.e98122

2014

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Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians

Epidermolysis Bullosa with Pyloric Atresia

The mineralization phenotype in Abcc6−/− mice is affected by Ggcx gene deficiency and genetic background—a model for pseudoxanthoma elasticum

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

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

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Phenome-wide heritability analysis of the UK Biobank

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

Connective tissue disorders and eye: A review and recent updates

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

Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification

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

Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes

Indirect genetic effects and housing conditions in relation to aggressive behaviour in pigs

Suitability of traits related to aggression and handleability for integration into pig breeding programmes: Genetic parameters and comparison between Gaussian and binary trait specifications

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

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Type VII Collagen: The Anchoring Fibril Protein at Fault in Dystrophic Epidermolysis Bullosa

The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population

A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization

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