Items where Author is "Heinimann, Karl"
Number of items: 28. 2020Zimmermann, Bettina M. and Shaw, David and Heinimann, Karl and Knabben, Laura and Elger, Bernice and Koné, Insa. (2020) How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study. European journal of human genetics : EJHG : the official journal of the European Society of Human Genetics, 28 (Supplement 5). pp. 1010-1019. 2019Nikolaidis, Christos and Ming, Chang and Pedrazzani, Carla and van der Horst, Tina and Kaiser-Grolimund, Andrea and Ademi, Zanfina and Bührer-Landolt, Rosmarie and Bürki, Nicole and Caiata-Zufferey, Maria and Champion, Victoria and Chappuis, Pierre O. and Kohler, Carmen and Erlanger, Tobias E. and Graffeo, Rossella and Hampel, Heather and Heinimann, Karl and Heinzelmann-Schwarz, Viola and Kurzeder, Christian and Monnerat, Christian and Northouse, Laurel L. and Pagani, Olivia and Probst-Hensch, Nicole and Rabaglio, Manuela and Schoenau, Eveline and Sijbrands, Eric J. G. and Taborelli, Monika and Urech, Corinne and Viassolo, Valeria and Wieser, Simon and Katapodi, Maria C. and for the Cascade Consortium, . (2019) Challenges and opportunities for cancer predisposition cascade screening for hereditary breast and ovarian cancer and lynch syndrome in Switzerland : findings from an international workshop. Public Health Genomics, 21 (3-4). pp. 121-132. Lackner, Carolin and Quagliata, Luca and Cross, William and Ribi, Sebastian and Heinimann, Karl and Paradiso, Viola and Quintavalle, Cristina and Kovacova, Monika and Baumhoer, Daniel and Piscuoglio, Salvatore and Terracciano, Luigi and Kovac, Michal. (2019) Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma. Scientific reports, 9 (1). p. 4611. 2018Spoerri, Iris and Herms, Stefan and Eytan, O. and Sarig, Ofer and Heinimann, Karl and Sprecher, E. and Itin, Peter H. and Burger, Bettina. (2018) Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. Journal of the European Academy of Dermatology and Venereology : JEADV, 32 (10). e389-e392. 2017Katapodi, Maria C. and Viassolo, Valeria and Caiata-Zufferey, Maria and Nikolaidis, Christos and Bührer-Landolt, Rosmarie and Buerki, Nicola G. and Graffeo, Rossella and Horváth, Henrik Csaba and Kurzeder, Christian and Rabaglio, Manuela and Scharfe, Michael and Urech, Corinne and Erlanger, Tobias E. and Probst-Hensch, Nicole and Heinimann, Karl and Heinzelmann-Schwarz, Viola and Pagani, Olivia and Chappuis, Pierre O.. (2017) Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol. JMIR Research Protocols, 6 (9). e184. 2014Kishore, Shivendra and Piscuoglio, Salvatore and Kovac, Michal and Gylling, Annette and Wenzel, Friedel and Trapani, Francesca and Altermatt, Hans Joerg and Mele, Valentina and Marra, Giancarlo and Peltomäki, Päivi and Terracciano, Luigi and Zavolan, Mihaela and Heinimann, Karl. (2014) 3'UTR poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair deficient cancers. Cancer research, 74 (1). pp. 224-234. Quagliata, Luca and Andreozzi, Mariacarla and Kovac, Michal and Tornillo, Luigi and Makowska, Zuzanna and Moretti, Francesca and Heim, Markus H. and Heinimann, Karl and Piscuoglio, Salvatore and Terracciano, Luigi Maria. (2014) SH2D4A is frequently downregulated in hepatocellular carcinoma and cirrhotic nodules. European Journal of Cancer, 50 (4). pp. 731-738. 2012Buerki, Nicole and Gautier, Lucienne and Kovac, Michal and Marra, Giancarlo and Buser, Mauro and Mueller, Hansjakob and Heinimann, Karl. (2012) Evidence for breast cancer as an integral part of Lynch syndrome. Genes, chromosomes & cancer, Vol. 51. pp. 83-91. 2011Filges, Isabel and Kunz, Christophe and Miny, Peter and Boesch, Nemya and Szinnai, Gabor and Wenzel, Friedel and Tschudin, Sibil and Zumsteg, Urs and Heinimann, Karl. (2011) A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and sterility, 96 (4). pp. 851-855. Necker, Judith and Kovac, Michal and Attenhofer, Michèle and Reichlin, Bruno and Heinimann, Karl. (2011) Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis : a plea for the protein truncation test. Journal of medical genetics, Vol. 48, H. 8. pp. 526-529. Plasilova, Martina and Chattopadhyay, Chandon and Ghosh, Apurba and Wenzel, Friedel and Demougin, Philippe and Noppen, Christoph and Schaub, Nathalie and Szinnai, Gabor and Terracciano, Luigi and Heinimann, Karl. (2011) Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS). PLoS ONE, Vol. 6, H. 6 , e21433. Ferrarini, Alessandra and Auteri-Kaczmarek, Agnes and Pica, Alessia and Boesch, Nemya and Heinimann, Karl and Schäfer, Stephan C. and Vesnaver-Megalo, Sara and Cina, Viviane and Beckmann, Jacques S. and Monnerat, Christian. (2011) Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Familial cancer, Vol. 10, H. 2. pp. 187-192. Kovac, Michal and Laczko, Endre and Haider, Ritva and Jiricny, Josef and Mueller, Hansjakob and Heinimann, Karl and Marra, Giancarlo. (2011) Familial colorectal cancer: eleven years of data from a registry program in Switzerland. Familial cancer, Vol. 10, H. 3. pp. 605-616. Fischmann, Arne and Gloor, Monika and Fasler, Susanne and Haas, Tanja and Rodoni Wetzel, Rachele and Bieri, Oliver and Wetzel, Stephan and Heinimann, Karl and Scheffler, Klaus and Fischer, Dirk. (2011) Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy. Journal of neurology, Vol. 258, H. 7. pp. 1333-1340. Gloor, Monika and Fasler, Susanne and Fischmann, Arne and Haas, Tanja and Bieri, Oliver and Heinimann, Karl and Wetzel, Stephan G. and Scheffler, Klaus and Fischer, Dirk. (2011) Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods. Journal of magnetic resonance imaging, Vol. 33, H. 1. pp. 203-210. Filges, Isabel and Kang, Anjeung and Klug, Vanessa and Wenzel, Friedel and Heinimann, Karl and Tercanli, Sevgi and Miny, Peter. (2011) aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis. Prenatal diagnosis, Vol. 31, H. 5. pp. 473-478. 2010Zlobec, Inti and Kovac, Michal and Erzberger, Priska and Molinari, Francesca and Bihl, Michel P. and Rufle, Alexander and Foerster, Anja and Frattini, Milo and Terracciano, Luigi and Heinimann, Karl and Lugli, Alessandro. (2010) Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer. International journal of cancer, Vol. 127, H. 11. pp. 2569-2575. Ganster, Christina and Wernstedt, Annekatrin and Kehrer-Sawatzki, Hildegard and Messiaen, Ludwine and Schmidt, Konrad and Rahner, Nils and Heinimann, Karl and Fonatsch, Christa and Zschocke, Johannes and Wimmer, Katharina. (2010) Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Human mutation, Vol. 31, H. 5. pp. 552-560. Filges, Isabel and Röthlisberger, Benno and Boesch, Nemya and Weber, Peter and Wenzel, Friedel and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2010) Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American journal of medical genetics. Part A, Vol. 152, H. 4. pp. 987-993. Out, Astrid A. and Tops, Carli M. J. and Nielsen, Maartje and Weiss, Marjan M. and van Minderhout, Ivonne J. H. M. and Fokkema, Ivo F. A. C. and Buisine, Marie-Pierre and Claes, Kathleen and Colas, Chrystelle and Fodde, Riccardo and Fostira, Florentia and Franken, Patrick F. and Gaustadnes, Mette and Heinimann, Karl and Hodgson, Shirley V. and Hogervorst, Frans B. L. and Holinski-Feder, Elke and Lagerstedt-Robinson, Kristina and Olschwang, Sylviane and van den Ouweland, Ans M. W. and Redeker, Egbert J. W. and Scott, Rodney J. and Vankeirsbilck, Bruno and Grønlund, Rikke Veggerby and Wijnen, Juul T. and Wikman, Friedrik P. and Aretz, Stefan and Sampson, Julian R. and Devilee, Peter and den Dunnen, Johan T. and Hes, Frederik J.. (2010) Leiden Open Variation Database of the MUTYH gene. Human mutation, Vol. 31, H. 11. pp. 1205-1215. Itin, Peter H. and Heinimann, Karl and Attenhofer, Michèle and Boesch, Nemya and De Lorenzo, Rosaria and Trüb, Swantje and Burger, Bettina. (2010) Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? European journal of dermatology : EJD, 20 (2). pp. 246-247. von Kanel, Thomas and Gerber, Dominik and Schaller, André and Baumer, Alessandra and Wey, Eva and Jackson, Christopher B. and Gisler, Franziska M. and Heinimann, Karl and Gallati, Sabina. (2010) Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clinical chemistry, Vol. 56, no. 7. pp. 1098-1106. Montani, Matteo and Heinimann, Karl and von Teichman, Adriana and Rudolph, Thomas and Perren, Aurel and Moch, Holger. (2010) VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts : further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. American journal of surgical pathology, Vol. 34, H. 6. pp. 806-815. 2009Templeton, Arnoud and Marra, Giancarlo and Valtorta, Emanuele and Heinimann, Karl and Müller, Hansjakob and Köberle, Dieter and Gillessen, Silke. (2009) Concordant colon tumors in monozygotic twins previously treated for prostate cancer. Familial cancer, Vol. 8. pp. 167-171. Filges, Isabel and Röthlisberger, Benno and Noppen, Christoph and Boesch, Nemya and Wenzel, Friedel and Necker, Judith and Binkert, Franz and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2009) Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33 : clinical and array-CGH study of a benign phenotype in a three-generation family. American journal of medical genetics, Vol. 149. pp. 237-241. Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M.. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519. 2008Bujalkova, Maria and Zavodna, Katarina and Krivulcik, Tomas and Ilencikova, Denisa and Wolf, Brigitte and Kovac, Michal and Karner-Hanusch, Judith and Heinimann, Karl and Marra, Giancarlo and Jiricny, Josef and Bartosova, Zdena. (2008) Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. Clinical chemistry, 54 (11). pp. 1844-1854. 2005Truninger, Kaspar and Menigatti, Mirco and Luz, Judith and Russell, Anna and Haider, Ritva and Gebbers, Jan-Olaf and Bannwart, Fridolin and Yurtsever, Hueseyin and Neuweiler, Joerg and Riehle, Hans-Martin and Cattaruzza, Maria Sofia and Heinimann, Karl and Schär, Primo and Jiricny, Josef and Marra, Giancarlo. (2005) Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. Gastroenterology, Vol. 128, H. 5. pp. 1160-1171. |
