Lista de obras - Peter C van den Akker - Dominio Público Uruguay

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

artículo científico publicado en 2018

A PLEC Isoform Identified in Skin, Muscle, and Heart

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

artículo científico publicado en 2018

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Natural gene therapy in dystrophic epidermolysis bullosa

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

RNA-based therapies for genodermatoses

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Therapies for epidermolysis bullosa: delivery is key

artículo científico publicado en 2019

Lista de obras de 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