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Ellen Pfendner

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Publications

TOP 3
Ellen Pfendner; Gary F Gerard; Jouni Uitto; Sharon F Terry
Pseudoxanthoma elasticum: genetic diagnostic markers.
Ellen Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis L Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel Bercovitch
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Anne W Lucky; Ellen Pfendner; Elizabeth Pillay; Judy Paskel; Madeline Weiner; Francis Palisson
Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.

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All Publications

2008: Ellen Pfendner; Gary F Gerard; Jouni Uitto; Sharon F Terry
Pseudoxanthoma elasticum: genetic diagnostic markers.
Expert opinion on medical diagnostics 2008;2(1):63-79.
2007: Ellen Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis L Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel Bercovitch
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Journal of medical genetics 2007;44(10):621-8.
2007: Anne W Lucky; Ellen Pfendner; Elizabeth Pillay; Judy Paskel; Madeline Weiner; Francis Palisson
Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
International journal of dermatology 2007;46(8):809-14.
2007: Ellen Pfendner; Anna Bruckner; Paulette Conget; Jemima E Mellerio; Francis Palisson; Anne W Lucky
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
International journal of dermatology 2007;46(8):781-94.
2007: Dédée F Murrell; Anna M G Pasmooij; Hendri H Pas; Penelope Marr; Sandra Klingberg; Ellen Pfendner; Jouni Uitto; Sara Sadowski; Felicity Collins; Richard Widmer; Marcel F Jonkman
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
The Journal of investigative dermatology 2007;127(7):1772-5.
2007: Caroline Choi Kim; Marilyn G Liang; Ellen Pfendner; Virginia E Kimonis
What syndrome is this? Laryngo-onycho-cutaneous syndrome.
Pediatric dermatology 2007;24(3):306-8.
2007: Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Journal of medical genetics 2007;44(3):181-92.
2006: R Varki; Sara Sadowski; Ellen Pfendner; Jouni Uitto
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Journal of medical genetics 2006;43(8):641-52.
2006: Judeh Abu Sa'd; Margarita Indelman; Ellen Pfendner; Tzipora C Falik-Zaccai; Mordechai Mizrachi-Koren; Stavit A Shalev; Dan Ben-Amitai; Annick Raas-Rothshild; Ayelet Adir-Shani; Zvi-Uri Borochowitz; Ruth Gershoni-Baruch; Morad Khayat; Daniela Landau; Gabriele Richard; Reuven Bergman; Jouni Uitto; Moien Kanaan; Eli Sprecher
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
The Journal of investigative dermatology 2006;126(4):777-81.
2005: Ellen Pfendner; Sara Sadowski; Jouni Uitto
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.
The Journal of investigative dermatology 2005;125(2):239-43.
2005: Ellen Pfendner; Fatima Rouan; Jouni Uitto
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Experimental dermatology 2005;14(4):241-9.
2005: Ellen Pfendner; Jouni Uitto
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia.
The Journal of investigative dermatology 2005;124(1):111-5.
2004: Ulrike Schara; Jens Tücke; Wilhelm Mortier; Thomas Nüsslein; Fatima Rouan; Ellen Pfendner; Detlef Zillikens; Leena Bruckner-Tuderman; Jouni Uitto; Gerhard Wiche; Rolf Schröder
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.
European journal of pediatrics 2004;163(4-5):218-22.
2003: Jouni Uitto; Ellen Pfendner; Laird G Jackson
Probing the fetal genome: progress in non-invasive prenatal diagnosis.
Trends in molecular medicine 2003;9(8):339-43.
2003: Ellen Pfendner; Aoi Nakano; Leena Pulkkinen; Angela M Christiano; Jouni Uitto
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Prenatal diagnosis 2003;23(6):447-56.
2003: Dan Ciubotaru; Reuven Bergman; David Baty; Margarita Indelman; Ellen Pfendner; Danny Petronius; Hannah Moualem; Moien Kanaan; Dan Ben-Amitai; W H Irwin McLean; Jouni Uitto; Eli Sprecher
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Archives of dermatology 2003;139(4):498-505.
2003: Eli Sprecher; Gil Yosipovitch; Reuven Bergman; Dan Ciubutaro; Margarita Indelman; Ellen Pfendner; Leok C Goh; Christopher J Miller; Jouni Uitto; Gabriele Richard
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
The Journal of investigative dermatology 2003;120(4):623-6.
2002: Rolf Schröder; Wolfram S Kunz; Fatima Rouan; Ellen Pfendner; Karen Tolksdorf; Karin Kappes-Horn; Manuela Altenschmidt-Mehring; Rupert Knoblich; Peter F.M. van der Ven; Jens Reimann; Dieter O Fürst; Ingmar Blümcke; Stefan Vielhaber; Detlef Zillikens; Sabine A Eming; Thomas Klockgether; Jouni Uitto; Gerhard Wiche; Arndt Rolfs
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Journal of neuropathology and experimental neurology 2002;61(6):520-30.
2002: Aoi Nakano; Gilles G Lestringant; Tamar Paperna; Reuven Bergman; Ruth Gershoni; Philippe Frossard; Moien Kanaan; Guerrino Meneguzzi; Gabriele Richard; Ellen Pfendner; Jouni Uitto; Leena Pulkkinen; Eli Sprecher
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Journal of the American Academy of Dermatology 2002;46(4):510-6.
2002: Aoi Nakano; Sheau-Chiou Chao; Leena Pulkkinen; Dédée F Murrell; Leena Bruckner-Tuderman; Ellen Pfendner; Jouni Uitto
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Human genetics 2002;110(1):41-51.
2001: Eli Sprecher; Stéphane Chavanas; John J DiGiovanna; S Amin; K Nielsen; J S Prendiville; R Silverman; N B Esterly; Mary K Spraker; E Guelig; M L de Luna; M L Williams; B Buehler; Elaine Siegfried; L Van Maldergem; Ellen Pfendner; Sherri J Bale; Jouni Uitto; Alain Hovnanian; Gabriele Richard
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
The Journal of investigative dermatology 2001;117(2):179-87.
2001: Aoi Nakano; Leena Pulkkinen; Dédée F Murrell; J Rico; Anne W Lucky; Maria C Garzon; C A Stevens; S Robertson; Ellen Pfendner; Jouni Uitto
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Pediatric research 2001;49(5):618-26.
2000: Aoi Nakano; Ellen Pfendner; I Hashimoto; Jouni Uitto
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.
The Journal of investigative dermatology 2000;115(3):493-8.