Ellen G Pfendner

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

Roslyn Varki, Sara Sadowski, Jouni Uitto et al. · Journal of Medical Genetics · 2006 · 279 citations · Full text

Medicine, Dermatology, Genetics +13

Mutation detection in the <i>ABCC6</i> gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G Pfendner, O. Vanakker, Sharon F. Terry et al. · Journal of Medical Genetics · 2007 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Eli Sprecher, Shivan Amin, Karl Nielsen et al. · Journal of Investigative Dermatology · 2001 · 162 citations

Life Sciences, Genetics, Molecular Genetics +13

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

Aoi Nakano, Sheau‐Chiou Chao, Leena Pulkkinen et al. · Human Genetics · 2001 · 150 citations

Medicine, Genetics, Molecular Genetics +12

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Rolf Schröder, Wolfram S. Kunz, Fatima Rouan et al. · Journal of Neuropathology & Experimental Neurology · 2002 · 109 citations · Full text

Medicine, Genetics, Molecular Biology +17