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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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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: 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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Pseudoxanthoma elasticum: genetic diagnostic markers

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

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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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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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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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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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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Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

Human mutation, 2020-05, Vol.41 (5), p.906-912

2020

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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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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

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: Genetic classification and clinical implications

Pseudoxanthoma elasticum: genetic diagnostic markers

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

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

Connective tissue disorders and eye: A review and recent updates

Efficient variance components analysis across millions of genomes

Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

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

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