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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

International journal of molecular sciences, 2021-11, Vol.22 (22), p.12222

2021

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Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa

British journal of dermatology (1951), 2024-08, Vol.191 (3), p.463-465

2024

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Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie

Journal der Deutschen Dermatologischen Gesellschaft, 2021-04, Vol.19 (4), p.611-614

2021

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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

PloS one, 2018-02, Vol.13 (2), p.e0192994-e0192994

2018

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Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Molecular therapy. Nucleic acids, 2019-12, Vol.18, p.465-475

2019

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Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

Biomedicines, 2022-08, Vol.10 (9), p.2118

2022

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The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

British journal of dermatology (1951), 2022-11, Vol.187 (5), p.824-826

2022

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A systematic review of patch angioplasty versus primary closure for carotid endarterectomy

Journal of vascular surgery, 2019-06, Vol.69 (6), p.1962-1974.e4

2019

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Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP‐mutated keratinocytes

Experimental dermatology, 2024-03, Vol.33 (3), p.e15046-n/a

2024

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Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases

Experimental dermatology, 2024-02, Vol.33 (2), p.e15036-n/a

2024

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A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

British journal of dermatology (1951), 2022-12, Vol.187 (6), p.1045-1048

2022

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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

Journal of medical genetics, 2021-04, Vol.58 (4), p.264-269

2021

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Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2440-2445

2023

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Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.896-898

2023

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Hyperkeratotic hand eczema: Eczema or not?

Contact dermatitis, 2020-09, Vol.83 (3), p.196-205

2020

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Patch Angioplasty or Primary Closure Following Carotid Endarterectomy for Symptomatic Carotid Artery Stenosis

Surgery journal (New York), 2018-04, Vol.4 (2), p.e96-e101

2018

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Diagnostic next generation sequencing in neonatal erythroderma

Journal der Deutschen Dermatologischen Gesellschaft, 2021-04, Vol.19 (4), p.612-614

2021

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Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

Molecular therapy. Nucleic acids, 2016, Vol.5 (10), p.e379-e379, Article e379

2016

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Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa

Experimental dermatology, 2019-10, Vol.28 (10), p.1153-1155

2019

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Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2014-08, Vol.134 (8), p.2097-2104

2014

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Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Journal of dermatological science, 2009-10, Vol.56 (1), p.9-18

2009

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In Vitro Models for the Evaluation of Antisense Oligonucleotides in Skin

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2434, p.185

2022

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In Vivo Models for the Evaluation of Antisense Oligonucleotides in Skin

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2434, p.315

2022

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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa

Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

A systematic review of patch angioplasty versus primary closure for carotid endarterectomy

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP‐mutated keratinocytes

Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

Hyperkeratotic hand eczema: Eczema or not?

Patch Angioplasty or Primary Closure Following Carotid Endarterectomy for Symptomatic Carotid Artery Stenosis

Diagnostic next generation sequencing in neonatal erythroderma

Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

Murine type VII collagen distorts outcome in human skin graft mouse model for dystrophic epidermolysis bullosa

Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

In Vitro Models for the Evaluation of Antisense Oligonucleotides in Skin

In Vivo Models for the Evaluation of Antisense Oligonucleotides in Skin

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