Publications by authors named "Ellen Pfendner"

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Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Carter Ellis, Chelsea Eason, Alan Snyder, Mark Siegel, Gurpur Shashidhar Pai, Ellen G Pfendner

JAAD Case Rep· May 2021

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PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
Maria C Bolling, Hendri H Pas, Marianne de Visser, Eleonora Aronica, Ellen G Pfendner

J Invest Dermatol· April 2010

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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Qiaoli Li, Qiujie Jiang, Ellen Pfendner, András Váradi, Jouni Uitto

Exp Dermatol· January 2009

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Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Sarah Weinel, Anne W Lucky, Jouni Uitto, Ellen G Pfendner, Daniel Choo

Pediatr Dermatol· May 2008

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Pseudoxanthoma elasticum: genetic diagnostic markers.
Ellen G Pfendner, Jouni Uitto, Gary F Gerard, Sharon F Terry

Expert Opin Med Diagn· January 2008

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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Ellen G Pfendner, Olivier M Vanakker, Sharon F Terry, Sophia Vourthis, Patricia E McAndrew

J Med Genet· October 2007

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Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Ellen G Pfendner, Anna Bruckner, Paulette Conget, Jemima Mellerio, Francis Palisson

Int J Dermatol· August 2007

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Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Anne W Lucky, Ellen Pfendner, Elizabeth Pillay, Judy Paskel, Madeline Weiner

Int J Dermatol· August 2007

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Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Dedee F Murrell, Anna M G Pasmooij, Hendri H Pas, Penelope Marr, Sandra Klingberg, Ellen Pfendner

J Invest Dermatol· July 2007

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What syndrome is this? Laryngo-onycho-cutaneous syndrome.
Caroline Choi Kim, Marilyn G Liang, Ellen Pfendner, Virginia E Kimonis

Pediatr Dermatol· July 2007

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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner

J Med Genet· March 2007

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Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Judeh Abu Sa'd, Margarita Indelman, Ellen Pfendner, Tzipora C Falik-Zaccai, Mordechai Mizrachi-Koren

J Invest Dermatol· April 2006

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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.
Ellen G Pfendner, Sara G Sadowski, Jouni Uitto

J Invest Dermatol· August 2005

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Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
Ellen Pfendner, Jouni Uitto

J Invest Dermatol· January 2005

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Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
Ulrike Schara, Jens Tücke, Wilhelm Mortier, Thomas Nüsslein, Fatima Rouan, Ellen Pfendner

Eur J Pediatr· April 2004

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Probing the fetal genome: progress in non-invasive prenatal diagnosis.
Jouni Uitto, Ellen Pfendner, Laird G Jackson

Trends Mol Med· August 2003

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Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Ellen G Pfendner, Aoi Nakano, Leena Pulkkinen, Angela M Christiano, Jouni Uitto

Prenat Diagn· June 2003

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Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Eli Sprecher, Gil Yosipovitch, Reuven Bergman, Dan Ciubutaro, Margarita Indelman, Ellen Pfendner

J Invest Dermatol· April 2003

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Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Dan Ciubotaru, Reuven Bergman, David Baty, Margarita Indelman, Ellen Pfendner

Arch Dermatol· April 2003

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Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Rolf Schröder, Wolfram S Kunz, Fatima Rouan, Ellen Pfendner, Karen Tolksdorf

J Neuropathol Exp Neurol· June 2002

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Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Aoi Nakano, Gilles G Lestringant, Tamar Paperna, Reuven Bergman, Ruth Gershoni, Ellen Pfendner

J Am Acad Dermatol· April 2002

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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Aoi Nakano, Sheau-Chiou Chao, Leena Pulkkinen, Dedee Murrell, Leena Bruckner-Tuderman, Ellen Pfendner

Hum Genet· January 2002

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