Vacuolating Cytotoxin and Variants in Atg16L1 That Disrupt Autophagy Promote Helicobacter pylori Infection in Humans von Raju, Deepa, Hussey, Seamus, Ang, Michelle, Terebiznik, Mauricio R, Sibony, Michal, Galindo–Mata, Esther, Gupta, Vijay, Blanke, Steven R, Delgado, Alberto, Romero–Gallo, Judith, Ramjeet, Mahendra Singh, Mascarenhas, Heidi, Peek, Richard M, Correa, Pelayo, Streutker, Cathy, Hold, Georgina, Kunstmann, Erdmutte, Yoshimori, Tamotsu, Silverberg, Mark S, Girardin, Stephen E, Philpott, Dana J, El Omar, Emad, Jones, Nicola L

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A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features von Petrova, E., Neuner, C., Haaf, T., Schmid, M., Wirbelauer, J., Jurkutat, A., Wermke, K., Nanda, I., Kunstmann, E.

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Positive family history of idiopathic sudden sensorineural hearing loss von Gäckler, A., Eickelmann, A. K., Brors, D., Dazert, S., Epplen, J. T., Kunstmann, E.

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01P Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions von Sagath, L., Kiiski, K., Naidu, K., Djordjevic, D., Yoon, G., Rogers, C., Scherer, K., Koparir, E., Kunstmann, E., Davis, M., Joshi, P., Zygmunt, A., Bönnemann, C., Biancalana, V., Echaniz-Laguna, A., Beggs, A., Henning, F., Wallgren-Pettersson, C., Pelin, K., Lehtokari, V.

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Sudden hearing loss due to fibromuscular dysplasia von Kunstmann, E, Eickelmann, A, Sudhoff, H, Pearson, M, Brors, D

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Free Recombination within Helicobacter pylori von Suerbaum, Sebastian, Smith, John Maynard, Bapumia, Khairun, Morelli, Giovanna, Smith, Noel H., Kunstmann, Erdmute, Dyrek, Isabelle, Achtman, Mark

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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability von Bisschoff, Izak J., Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Katrina E., Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J.

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Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer von Mangold, Elisabeth, Pagenstecher, Constanze, Friedl, Waltraut, Mathiak, Micaela, Buettner, Reinhard, Engel, Christoph, Loeffler, Markus, Holinski‐Feder, Elke, Müller‐Koch, Yvonne, Keller, Gisela, Schackert, Hans K., Krüger, Stefan, Goecke, Timm, Moeslein, Gabriela, Kloor, Matthias, Gebert, Johannes, Kunstmann, Erdmute, Schulmann, Karsten, Rüschoff, Josef, Propping, Peter

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New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes von JAGIELLO, Peter, GENCIK, Martin, ARNING, Larissa, WIECZOREK, Stefan, KUNSTMANN, Erdmute, CSERNOK, Elena, GROSS, Wolfgang L, EPPLEN, Joerg T

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The Nonfunctional Allele TCRBV6S1B Is Strongly Associated with Helicobacter pylori Infection von KUNSTMANN, Erdmute, HARDT, Cornelia, ELITOK, Ercan, HARDER, Marianne, SUERBAUM, Sebastian, PEITZ, Ulrich, SCHMIEGEL, Wolff, EPPLEN, Jörg T

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Microsatellite instability of selective target genes in HNPCC-associated colon adenomas von WOERNER, Stefan M, KLOOR, Matthias, PAGENSTECHER, Constanze, SCHACKERT, Hans K, MÖSLEIN, Gabriela, VOGELSANG, Holger, VON KNEBEL DOEBERITZ, Magnus, GEBERT, Johannes F, MUELLER, Annegret, RUESCHOFF, Josef, FRIEDRICHS, Nicolaus, BUETTNER, Reinhard, BUZELLO, Moriz, KIENLE, Peter, KNAEBEL, Hanns-Peter, KUNSTMANN, Erdmute

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation von TEBER, Özge Altug, GILLESSEN-KAESBACH, Gabriele, HENN, Wolfram, HINKEL, Georg Klaus, KÖNIG, Rainer, KUNSTMANN, Erdmute, KUNZE, Jürgen, NEUMANN, Luitgard M, PROTT, Eva-Christina, RAUCH, Anita, ROTT, Hans-Dieter, SEIDEL, Heide, FISCHER, Sven, SPRANGER, Stephanie, SPRENGEL, Martin, ZOLL, Barbara, LOHMANN, Dietmar R, WIECZOREK, Dagmar, BÖHRINGER, Stefan, ALBRECHT, Beate, ALBERT, Angelika, ARSLAN-KIRCHNER, Mine, HAAN, Eric, HAGEDORN-GREIWE, Monika, HAMMANS, Christof

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Erbliches Endometrium- und Ovarialkarzinom bei Patientinnen mit Lynch-Syndrom von Kunstmann, E., Epplen, J. T.

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Electrophoresis of DNA in human genetic diagnostics - state-of-the-art, alternatives and future prospects von Gödde, René, Akkad, Denis-Amer, Arning, Larissa, Dekomien, Gabriele, Herchenbach, Julia, Kunstmann, Erdmute, Meins, Moritz, Wieczorek, Stefan, Epplen, Jörg T., Hoffjan, Sabine

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Absence of association between cyclin D1 ( CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer von Krüger, Stefan, Engel, Christoph, Bier, Andrea, Mangold, Elisabeth, Pagenstecher, Constanze, von Knebel Doeberitz, Magnus, Holinski-Feder, Elke, Moeslein, Gabriela, Keller, Gisela, Kunstmann, Erdmute, Friedl, Waltraut, Plaschke, Jens, Rüschoff, Josef, Schackert, Hans K., The German HNPCC-Consortium

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Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress von Hasenbring, Monika I, Kreddig, Nina, Deges, Gabriele, Epplen, Joerg T, Kunstmann, Erdmute, Stemmler, Susanne, Schulmann, Karsten, Willert, Joerg, Schmiegel, Wolf

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Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families von Frank, Bernd, Burwinkel, Barbara, Bermejo, Justo Lorenzo, Försti, Asta, Hemminki, Kari, Houlston, Richard, Mangold, Elisabeth, Rahner, Nils, Friedl, Waltraut, Friedrichs, Nicolaus, Buettner, Reinhard, Engel, Christoph, Loeffler, Markus, Holinski-Feder, Elke, Morak, Monika, Keller, Gisela, Schackert, Hans K, Krüger, Stefan, Goecke, Timm, Moeslein, Gabriela, Kloor, Matthias, Gebert, Johannes, Kunstmann, Erdmute, Schulmann, Karsten, Rüschoff, Josef, Propping, Peter

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Kongenitale Schwerhörigkeit : Molekulargenetische Diagnostik der Connexin-Gene und genetische Beratung von KUNSTMANN, E, HILDMANN, A, LAUTERMANN, J, ALETSEE, C, EPPLEN, J. T, SUDHOFF, H

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Pränataldiagnostik – sonographische Auffälligkeiten in zwei Schwangerschaften einer Familie mit einer fetalen renal tubulären Dysgenesie und eines Cornelia de Lange Syndroms von Lehnen, H, Schwennicke, G, Maiwald, R, Kunstmann, E, Kaiser, F, Netzer, C

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Helicobacter pylori infection and polymorphisms in the tumor necrosis factor region von Kunstmann, Erdmute, Epplen, Cornelia, Elitok, Ercan, Harder, Marianne, Suerbaum, Sebastian, Peitz, Ulrich, Schmiegel, Wolff, Epplen, Jörg T.

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