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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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Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity

Clinical chemistry (Baltimore, Md.), 2021-06, Vol.67 (6), p.876-888

2021

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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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The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa

Experimental dermatology, 2013-02, Vol.22 (2), p.88-92

2013

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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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Epidermolysis Bullosa with Pyloric Atresia

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

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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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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Progress in epidermolysis bullosa: Genetic classification and clinical implications

American journal of medical genetics. Part C, Seminars in medical genetics, 2004-11, Vol.131C (1), p.61-74

2004

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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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Pseudoxanthoma elasticum: genetic diagnostic markers

Expert opinion on medical diagnostics, 2008-01, Vol.2 (1), p.63-79

2008

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Zebrafish as a model system to study heritable skin diseases

Methods in molecular biology (Clifton, N.J.), 2013, Vol.961, p.411

2013

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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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Hemidesmosomal variants of epidermolysis bullosa

Experimental dermatology, 1998-06, Vol.7 (2-3), p.46-64

1998

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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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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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Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-03, Vol.169C (1), p.6-22

2015

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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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Efficient variance components analysis across millions of genomes

Nature communications, 2020-08, Vol.11 (1), p.4020-4020, Article 4020

2020

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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Human mutation, 2018-10, Vol.39 (10), p.1349-1354

2018

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

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity

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

The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa

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

Epidermolysis Bullosa with Pyloric Atresia

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

Progress in epidermolysis bullosa: Genetic classification and clinical implications

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

Pseudoxanthoma elasticum: genetic diagnostic markers

Zebrafish as a model system to study heritable skin diseases

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

Hemidesmosomal variants of epidermolysis bullosa

Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

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

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Phenome-wide heritability analysis of the UK Biobank

Efficient variance components analysis across millions of genomes

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

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

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

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