Search Results - "PFENDNER, ELLEN"

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

“…:  Pseudoxanthoma elasticum (PXE), a prototype of heritable multisystem disorders, is characterised by pathologic mineralisation of connective tissues, with…”
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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum by Pfendner, Ellen G, Vanakker, Olivier M, Terry, Sharon F, Vourthis, Sophia, McAndrew, Patricia E, McClain, Monica R, Fratta, Sarah, Marais, Anna-Susan, Hariri, Susan, Coucke, Paul J, Ramsay, Michele, Viljoen, Denis, Terry, Patrick F, De Paepe, Anne, Uitto, Jouni, Bercovitch, Lionel G

“…Background: Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and…”
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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 by Ellis, Carter, Eason, Chelsea, Snyder, Alan, Siegel, Mark, Pai, Gurpur Shashidhar, Ryan, Erin, Pfendner, Ellen G., Lee, Lara Wine

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PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy by Bolling, Maria C., Pas, Hendri H., de Visser, Marianne, Aronica, Eleonora, Pfendner, Ellen G., van den Berg, Maarten P., Diercks, Gilles F.H., Suurmeijer, Albert J.H., Jonkman, Marcel F.

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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 by Pfendner, Ellen G., Sadowski, Sara G., Uitto, Jouni

“…Epidermolysis bullosa simplex (EBS) is a mechano-bullous disorder characterized by intraepidermal blistering within the basal keratinocytes as a result of…”
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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes by NAKANO, Aoi, CHAO, Sheau-Chiou, PULKKINEN, Leena, MURRELL, Dedee, BRUCKNER-TUDERMAN, Leena, PFENDNER, Ellen, UITTO, Jouni

“…Junctional epidermolysis bullosa (JEB) is a group of heritable blistering diseases in which tissue separation occurs within the lamina lucida of the cutaneous…”
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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 by Murrell, Dedee F., Pasmooij, Anna M.G., Pas, Hendri H., Marr, Penelope, Klingberg, Sandra, Pfendner, Ellen, Uitto, Jouni, Sadowski, Sara, Collins, Felicity, Widmer, Richard, Jonkman, Marcel F.

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

“…Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and erosions after minor trauma…”
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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population by Abu Sa'd, Judeh, Indelman, Margarita, Pfendner, Ellen, Falik-Zaccai, Tzipora C., Mizrachi-Koren, Mordechai, Shalev, Stavit, Amitai, Dani Ben, Raas-Rothshild, Annick, Adir-Shani, Ayelet, Borochowitz, Zvi-Uri, Gershoni-Baruch, Ruth, Khayat, Morad, Landau, Daniela, Richard, Gabriele, Bergman, Reuven, Uitto, Jouni, Kanaan, Moien, Sprecher, Eli

“…Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders caused by mutations in at least 10 genes. Numerous studies, mainly…”
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Probing the fetal genome: progress in non-invasive prenatal diagnosis by Uitto, Jouni, Pfendner, Ellen, Jackson, Laird G.

“…Progress in our understanding of the molecular basis of heritable diseases, through identification of specific mutations, has provided a foundation for the…”
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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 by Pfendner, Ellen G., Bruckner, Anna, Conget, Paulette, Mellerio, Jemima, Palisson, Francis, Lucky, Anne W.

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Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness by Weinel, Sarah, Lucky, Anne W., Uitto, Jouni, Pfendner, Ellen G., Choo, Daniel

“…:  Dystrophic epidermolysis bullosa can be inherited in autosomal dominant and recessive forms, the former usually expressed as a milder phenotype, although…”
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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes by Varki, Roslyn, Sadowski, Sara, Uitto, Jouni, Pfendner, Ellen

“…Background: The dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both…”
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Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia by Pfendner, Ellen, Uitto, Jouni

“…Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with neonatal blistering and gastric anomalies, is known to be caused by mutations in the…”
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The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis by Sprecher, Eli, Amin, Shivan, Nielsen, Karl, Pfendner, Ellen, Uitto, Jouni, Richard, Gabriele, Chavanas, Stephane, DiGiovanna, John J., Prendiville, Julie S., Silverman, Robert, Esterly, Nancy B., Spraker, Mary K., Guelig, Ed, de Luna, Margharita Larralde, Williams, Mary L., Buehler, Bruce, Siegfried, Elaine C., Van Maldergem, Lionel, Bale, Sherri J., Hovnanian, Alain

“…The Comèl–Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft…”
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Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005 by Lucky, Anne W., Pfendner, Ellen, Pillay, Elizabeth, Paskel, Judy, Weiner, Madeline, Palisson, Francis

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Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the β4 integrin gene (ITGB4) and genotype/phenotype correlations by NAKANO, Aoi, PULKKINEN, Leena, MURRELL, Dedee, RICO, Joyce, LUCKY, Anne W, GARZON, Maria, STEVENS, Cathy A, ROBERTSON, Stephen, PFENDNER, Ellen, UITTO, Jouni

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Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy by SCHRÖDER, ROLF, KUNZ, WOLFRAM S, ROUAN, FATIMA, PFENDNER, ELLEN, TOLKSDORF, KAREN, KAPPES-HORN, KARIN, ALTENSCHMIDT-MEHRING, MANUELA, KNOBLICH, RUPERT, VAN DER VEN, PETER F.M, REIMANN, JENS, FÜRST, DIETER O, BLÜMCKE, INGMAR, VIELHABER, STEFAN, ZILLIKENS, DETLEF, EMING, SABINE, KLOCKGETHER, THOMAS, UITTO, JOUNI, WICHE, GERHARD, ROLFS, ARNDT

“…Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). Here, we report on…”
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What Syndrome Is This? by Kim, Caroline Choi, Liang, Marilyn G., Pfendner, Ellen, Kimonis, Virginia E.

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Psychosocial aspects of epidermolysis bullosa : Proceedings of the lind International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005 by LUCKY, Anne W, PFENDNER, Ellen, PILLAY, Elizabeth, PASKEL, Judy, WEINER, Madeline, PALISSON, Francis

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