List of works - Peter C van den Akker

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

scientific article published on 22 February 2018

A PLEC Isoform Identified in Skin, Muscle, and Heart

scientific article

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

scientific article published on 16 October 2013

Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy

scientific article published on 9 May 2016

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

scientific article

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

scientific article published on 6 July 2016

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

scientific article published on 14 August 2018

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

scientific article published on 09 August 2019

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison

scientific article

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

scientific article

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

scientific article published on 27 May 2017

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations

scientific article published on 02 March 2018

Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa

scientific article published in May 2016

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

scientific article published on 28 June 2019

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

scientific article published on August 2017

Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

scientific article published on 22 February 2011

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

scientific article

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

scientific article

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

scientific article published on 27 February 2014

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

scientific article published on 20 August 2018

Natural gene therapy in dystrophic epidermolysis bullosa

scientific article published on 17 October 2011

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

scientific article

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

scientific article published on 26 June 2015

RNA-based therapies for genodermatoses

scientific article

Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

scientific article published on 22 January 2015

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly

scientific article published on 01 February 2009

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

scientific article published on 9 September 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

scientific article

Therapies for epidermolysis bullosa: delivery is key

scientific article published on 01 January 2019

List of works by Peter C van den Akker

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

A PLEC Isoform Identified in Skin, Muscle, and Heart

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy

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

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison

Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations

Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa

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

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.

Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

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

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

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

Natural gene therapy in dystrophic epidermolysis bullosa

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

RNA-based therapies for genodermatoses

Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

Therapies for epidermolysis bullosa: delivery is key