List of works - Ellen G Pfendner

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

scientific article published on 01 August 2007

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

article

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

scientific article published in June 2002

Dystrophic Epidermolysis Bullosa

scientific article published on 13 September 2018

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness

scientific article

Epidermolysis Bullosa Carrier Frequencies in the US Population

scholarly article by Ellen Pfendner published in March 2001

Epidermolysis Bullosa with Pyloric Atresia

scientific article published on 7 September 2017

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

scientific article

Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

scientific article

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

scientific article

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5

scientific article published on 01 April 2003

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

scientific article published on April 2002

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population

scientific article published in April 2006

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

scientific article

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

scientific article published on 17 December 2009

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia

scientific article published on 01 January 2005

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

scientific article

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

scientific article

Pseudoxanthoma elasticum: genetic diagnostic markers

scientific article published on January 2008

Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

scientific article published on 01 August 2007

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

scientific article published on 08 March 2007

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

scientific article published on 13 February 2004

List of works by Ellen G Pfendner

Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness

Epidermolysis Bullosa Carrier Frequencies in the US Population

Epidermolysis Bullosa with Pyloric Atresia

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Pseudoxanthoma elasticum: genetic diagnostic markers

Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation