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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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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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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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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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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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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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Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3016-3023

2022

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Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.552-560

2019

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Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits

Journal of medical genetics, 2021-06, Vol.58 (6), p.392-399

2021

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Genetic parameters of insect bite hypersensitivity in Dutch Friesian broodmares

Journal of animal science, 2011-05, Vol.89 (5), p.1286

2011

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A review of Ehlers-Danlos syndrome

JAAPA (Montvale, N.J.), 2020-04, Vol.33 (4), p.23-28

2020

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A Subset of Skin Tumor Modifier Loci Determines Survival Time of Tumor-Bearing Mice

Proceedings of the National Academy of Sciences - PNAS, 1999-12, Vol.96 (26), p.15032-15037

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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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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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

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

Hemidesmosomal variants of epidermolysis bullosa

Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

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

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

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

Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits

Genetic parameters of insect bite hypersensitivity in Dutch Friesian broodmares

A review of Ehlers-Danlos syndrome

A Subset of Skin Tumor Modifier Loci Determines Survival Time of Tumor-Bearing Mice

Molecular genetics of pseudoxanthoma elasticum

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

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