Analysis of <it>PDE6D </it>and <it>PDE6G </it>genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Por Dekomien Gabriele, Epplen Joerg T
Publicado em 2003-07-01

Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs

Por Dekomien, Gabriele, Epplen, Joerg T
Publicado em 2003

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

Por Schlang, Katharina J, Arning, Larissa, Epplen, Joerg T, Stemmler, Susanne
Publicado em 2008

PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients

Por Miterski, Bianca, Sindern, Eckhart, Haupts, Michael, Schimrigk, Sebastian, Epplen, Joerg T
Publicado em 2002

On the Wegener granulomatosis associated region on chromosome 6p21.3

Por Szyld, Paweł, Jagiello, Peter, Csernok, Elena, Gross, Wolfgang L, Epplen, Joerg T
Publicado em 2006

Lifespan, lifetime reproductive performance and paternity loss of within-pair and extra-pair offspring in the coal tit Periparus ater

Por Schmoll, Tim, Schurr, Frank M., Winkel, Wolfgang, Epplen, Joerg T., Lubjuhn, Thomas
Publicado em 2008

Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case–control cohort

Por Stemmler, Susanne, Parwez, Qumar, Petrasch-Parwez, Elisabeth, Epplen, Joerg T, Hoffjan, Sabine
Publicado no BMC Dermatol (2014)

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)

Por Bernhardt, Christiane, Schwan, Anne-Marie, Kraus, Peter, Epplen, Joerg Thomas, Kunstmann, Erdmute
Publicado em 2009

Association study with Wegener granulomatosis of the human phospholipase Cγ2 gene

Por Jagiello, Peter, Wieczorek, Stefan, Yu, Philipp, Csernok, Elena, Gross, Wolfgang L, Epplen, Joerg T
Publicado em 2005

Association of toll-interacting protein gene polymorphisms with atopic dermatitis

Por Schimming, Tobias T, Parwez, Qumar, Petrasch-Parwez, Elisabeth, Nothnagel, Michael, Epplen, Joerg T, Hoffjan, Sabine
Publicado em 2007

HNPCC: Six new pathogenic mutations

Por Kunstmann, Erdmute, Vieland, Judith, Brasch, Frank E, Hahn, Stephan A, Epplen, Joerg T, Schulmann, Karsten, Schmiegel, Wolff
Publicado em 2004

Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations

Por Schlitter, Anna Melissa, Kurz, Martin, Larsen, Jan P, Woitalla, Dirk, Mueller, Thomas, Epplen, Joerg T, Dekomien, Gabriele
Publicado em 2005

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Por Hoffjan, Sabine, Waldmüller, Stephan, Blankenfeldt, Wulf, Kötting, Judith, Gehle, Petra, Binner, Priska, Epplen, Joerg T, Scheffold, Thomas
Publicado em 2011

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature

Por Dusanic, Maja, Dekomien, Gabriele, Lücke, Thomas, Vorgerd, Matthias, Weis, Joachim, Epplen, Joerg T., Köhler, Cornelia, Hoffjan, Sabine
Publicado no Mol Syndromol (2018)

mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis

Por Yu, Xinhua, Koczan, Dirk, Sulonen, Anna-Maija, Akkad, Denis A., Kroner, Antje, Comabella, Manuel, Costa, Gianna, Corongiu, Daniela, Goertsches, Robert, Camina-Tato, Montserrat, Thiesen, Hans-Juergen, Nyland, Harald I., Mørk, Sverre J., Montalban, Xavier, Rieckmann, Peter, Marrosu, Maria G., Myhr, Kjell-Morten, Epplen, Joerg T., Saarela, Janna, Ibrahim, Saleh M.
Publicado em 2008

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

Por Sadovnick, A. Dessa, Traboulsee, Anthony L., Bernales, Cecily Q., Ross, Jay P., Forwell, Amanda L., Yee, Irene M., Guillot-Noel, Lena, Fontaine, Bertrand, Cournu-Rebeix, Isabelle, Alcina, Antonio, Fedetz, Maria, Izquierdo, Guillermo, Matesanz, Fuencisla, Hilven, Kelly, Dubois, Bénédicte, Goris, An, Astobiza, Ianire, Alloza, Iraide, Antigüedad, Alfredo, Vandenbroeck, Koen, Akkad, Denis A., Aktas, Orhan, Blaschke, Paul, Buttmann, Mathias, Chan, Andrew, Epplen, Joerg T., Gerdes, Lisa-Ann, Kroner, Antje, Kubisch, Christian, Kümpfel, Tania, Lohse, Peter, Rieckmann, Peter, Zettl, Uwe K., Zipp, Frauke, Bertram, Lars, Lill, Christina M, Fernandez, Oscar, Urbaneja, Patricia, Leyva, Laura, Alvarez-Cermeño, Jose Carlos, Arroyo, Rafael, Garagorri, Aroa M., García-Martínez, Angel, Villar, Luisa M., Urcelay, Elena, Malhotra, Sunny, Montalban, Xavier, Comabella, Manuel, Berger, Thomas, Fazekas, Franz, Reindl, Markus, Schmied, Mascha C., Zimprich, Alexander, Vilariño-Güell, Carles
Publicado no G3 (Bethesda) (2016)

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

Por Lill, Christina M., Schjeide, Brit-Maren M., Graetz, Christiane, Ban, Maria, Alcina, Antonio, Ortiz, Miguel A., Pérez, Jennifer, Damotte, Vincent, Booth, David, Lopez de Lapuente, Aitzkoa, Broer, Linda, Schilling, Marcel, Akkad, Denis A., Aktas, Orhan, Alloza, Iraide, Antigüedad, Alfredo, Arroyo, Rafa, Blaschke, Paul, Buttmann, Mathias, Chan, Andrew, Compston, Alastair, Cournu-Rebeix, Isabelle, Dörner, Thomas, Epplen, Joerg T., Fernández, Óscar, Gerdes, Lisa-Ann, Guillot-Noël, Léna, Hartung, Hans-Peter, Hoffjan, Sabine, Izquierdo, Guillermo, Kemppinen, Anu, Kroner, Antje, Kubisch, Christian, Kümpfel, Tania, Li, Shu-Chen, Lindenberger, Ulman, Lohse, Peter, Lubetzki, Catherine, Luessi, Felix, Malhotra, Sunny, Mescheriakova, Julia, Montalban, Xavier, Papeix, Caroline, Paredes, Lidia F., Rieckmann, Peter, Steinhagen-Thiessen, Elisabeth, Winkelmann, Alexander, Zettl, Uwe K., Hintzen, Rogier, Vandenbroeck, Koen, Stewart, Graeme, Fontaine, Bertrand, Comabella, Manuel, Urcelay, Elena, Matesanz, Fuencisla, Sawcer, Stephen, Bertram, Lars, Zipp, Frauke
Publicado em 2013