Thomas Jefferson University - Ellen G. Pfendner
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Ellen G. Pfendner
Dermatology and Cutaneous Biology
Thomas Jefferson University
Jefferson Medical College
Department of Dermatology & Cutaneous Biology
Assistant Professor
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Mailing Address
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428 BLSB 233 S 10th St
Philadelphia, Pennsylvania 19107
United States
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Expertise and Research Interests
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Clinical and research on genetic causes of human disease. Prenatal diagnosis for human genetic disorders as well as mutation detection strategies. Specializing in genetic skin disorders especially epidermolysis bullosa and pseudoxanthoma elasticum.
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Other Expertise
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Previous experience in clinical testing for fragile X syndrome, duchenne muscular dystrophy, sickle cell anemia, hemophilia, cystic fibrosis and achondroplasia as well as clonality studies for B cell and T cell lymphoma and leukemia at the University of Pennsylvania and Albert Einstein Medical Center.
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Industrial Relevance
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Mutation detection strategies for human disease and SNP discovery using multiple strategies including dHPLC have relevance in the search for marker-phenotype association studies including drug target discovery applications.
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Keywords
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Disease Association Strategies; Epidermolysis Bullosa; Human Genetic Disorders; Human Genetics; Medical Disciplines; Medical Fields; Mutation Detection; Prenatal Diagnosis; Snp Discovery
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Publications
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- Pfendner, E, A Nakano, L Pulkkinen, A Christiano and J Uitto Prenatal diagnosis for Epidermolysis bullosa: A study of 144 consecutive pregnancies at risk. 2003 Prenatal Diagnosis 23:447-456.
- Nakano A, S-C Chao, L Pulkkinen, D Murrell, L Bruckner-Tuderman, E Pfendner, J Uitto 2002 Laminin 5 Mutations in Junctional Epidermolysis Bullosa: Molecular Basis of Herlitz vs Non-Herlitz Phenotypes. Human Genetics 110:41-51.
- Nakano, A, D Murrell, J Rico, A Lucky, M Garzon, C Stevens, S Robertson, L Pulkkinen, E Pfendner, J Uitto 2001 Epidermolysis Bullosa with congenital pyloric atresia: Novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 2001 Pediatric Research May 49(5) 618-26
- Nakano, A, E Pfendner, L Pulkkinen, I Hashimoto and J Uitto 2000 Herlitz Junctional Epidermolysis Bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. Journal of Investigative Dermatology 115:493-498.
- Uitto, J, E Pfendner, L G Jackson Probing the fetal genome: progress in non-invasive prenatal diagnosis. 2003 Trends in Molecular Medicine 9:339-343.
- Schara U, Tucke J, Mortier W, Nusslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schroder R. 2004 Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. European Journal of Pediatrics 163(4-5):218-22.
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Individual Expertise profile of
Ellen G. Pfendner, Copyright © Ellen G. Pfendner.
Last Updated
by Admin
: Friday, December 2, 2005 9:25:04 AM
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