Publications
Showing records 1 - 20 (of 28)
Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
Author
Year
Title
Publisher
1193020 Filges,Isabel; Röthlisberger,Benno; Noppen,Christoph; Boesch,Nemya; Wenzel,Friedel; Necker,Judith; Binkert,Franz; Huber,Andreas R; Heinimann,Karl; 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
1194674 Filges, Isabel; Röthlisberger, Benno; Wenzel, Friedel; Heinimann, Karl; Huber, Andreas R; Miny, Peter
2008
Mosaic ring chromosome 8 : clinical and array-CGH findings in partial trisomy 8
American journal of medical genetics. Part A
1192680 Filges, Isabel; Röthlisberger, Benno; Boesch, Nemya; Weber, Peter; Wenzel, Friedel; Huber, Andreas R; Heinimann, Karl; 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
1193587 Montani, Matteo; Heinimann, Karl; von Teichman, Adriana; Rudolph, Thomas; Perren, Aurel; 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
1193370 Zlobec, I; Molinari, F; Kovac, M; Bihl, M P; Altermatt, H J; Diebold, J; Frick, H; Germer, M; Horcic, M; Montani, M; Singer, G; Yurtsever, H; Zettl, A; Terracciano, L; Mazzucchelli, L; Saletti, P; Frattini, M; Heinimann, K; Lugli, A
2010
Prognostic and predictive value of TOPK stratified by KRAS and BRAF gene alterations in sporadic, hereditary and metastatic colorectal cancer patients
British journal of cancer
1194068 Kantelinen, J; Kansikas, M; Korhonen, M K; Ollila, S; Heinimann, K; Kariola, R; Nyström, M
2010
MutSbeta exceeds MutSalpha in dinucleotide loop repair
British journal of cancer
1193970 Bujalkova, Maria; Zavodna, Katarina; Krivulcik, Tomas; Ilencikova, Denisa; Wolf, Brigitte; Kovac, Michal; Karner-Hanusch, Judith; Heinimann, Karl; Marra, Giancarlo; Jiricny, Josef; 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
1193604 von Kanel, Thomas; Gerber, Dominik; Schaller, André; Baumer, Alessandra; Wey, Eva; Jackson, Christopher B; Gisler, Franziska M; Heinimann, Karl; Gallati, Sabina
2010
Quantitative 1-step DNA methylation analysis with native genomic DNA as template
Clinical chemistry
1195332 Oliveira, J; Santos, R; Soares-Silva, I; Jorge, P; Vieira, E; Oliveira, M E; Moreira, A; Coelho, T; Ferreira, J C; Fonseca, M J; Barbosa, C; Prats, J; Aríztegui, M L; Martins, M L; Moreno, T; Heinimann, K; Barbot, C; Pascual-Pascual, S I; Cabral, A; Fineza, I; Santos, M; Bronze-da-Rocha, E
2008
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
Clinical genetics
1192682 Filges, I.; Roethlisberger, B.; Blattner, A.; Boesch, N.; Demougin, P.; Wenzel, F.; Huber, A. R.; Heinimann, K.; Weber, P.; Miny, P.
2011
Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism
Clinical genetics
4374174 Itin, Peter H.; Heinimann, Karl; Attenhofer, Michèle; Boesch, Nemya; De Lorenzo, Rosaria; Trüb, Swantje; Burger, Bettina
2010
Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome?
European journal of dermatology : EJD
4596629 Zimmermann, Bettina M.; Shaw, David; Heinimann, Karl; Knabben, Laura; Elger, Bernice; 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
1193845 Kovac, Michal; Laczko, Endre; Haider, Ritva; Jiricny, Josef; Mueller, Hansjakob; Heinimann, Karl; Marra, Giancarlo
2011
Familial colorectal cancer: eleven years of data from a registry program in Switzerland
Familial cancer
1197046 Vasen, H F A; Möslein, G; Alonso, A; Aretz, S; Bernstein, I; Bertario, L; Blanco, I; Bulow, S; Burn, J; Capella, G; Colas, C; Engel, C; Frayling, I; Rahner, N; Hes, F J; Hodgson, S; Mecklin, J-P; Møller, P; Myrhøj, T; Nagengast, F M; Parc, Y; Ponz de Leon, M; Renkonen-Sinisalo, L; Sampson, J R; Stormorken, A; Tejpar, S; Thomas, H J W; Wijnen, J; Lubinski, J; Järvinen, H; Claes, E; Heinimann, K; Karagiannis, J A; Lindblom, A; Dove-Edwin, I; Müller, H
2010
Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
Familial cancer
1196145 Templeton, Arnoud; Marra, Giancarlo; Valtorta, Emanuele; Heinimann, Karl; Müller, Hansjakob; Köberle, Dieter; Gillessen, Silke
2009
Concordant colon tumors in monozygotic twins previously treated for prostate cancer
Familial cancer
1193492 Filges, Isabel; Kunz, Christophe; Miny, Peter; Boesch, Nemya; Szinnai, Gabor; Wenzel, Friedel; Tschudin, Sibil; Zumsteg, Urs; 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
1196337 Buerki, Nicole; Gautier, Lucienne; Kovac, Michal; Marra, Giancarlo; Buser, Mauro; Mueller, Hansjakob; Heinimann, Karl
2012
Evidence for breast cancer as an integral part of Lynch syndrome
Genes, chromosomes & cancer
1197044 Ganster, Christina; Wernstedt, Annekatrin; Kehrer-Sawatzki, Hildegard; Messiaen, Ludwine; Schmidt, Konrad; Rahner, Nils; Heinimann, Karl; Fonatsch, Christa; Zschocke, Johannes; Wimmer, Katharina
2010
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
Human mutation
1194306 Out, Astrid A; Tops, Carli M J; Nielsen, Maartje; Weiss, Marjan M; van Minderhout, Ivonne J H M; Fokkema, Ivo F A C; Buisine, Marie-Pierre; Claes, Kathleen; Colas, Chrystelle; Fodde, Riccardo; Fostira, Florentia; Franken, Patrick F; Gaustadnes, Mette; Heinimann, Karl; Hodgson, Shirley V; Hogervorst, Frans B L; Holinski-Feder, Elke; Lagerstedt-Robinson, Kristina; Olschwang, Sylviane; van den Ouweland, Ans M W; Redeker, Egbert J W; Scott, Rodney J; Vankeirsbilck, Bruno; Grønlund, Rikke Veggerby; Wijnen, Juul T; Wikman, Friedrik P; Aretz, Stefan; Sampson, Julian R; Devilee, Peter; den Dunnen, Johan T; Hes, Frederik J
2010
Leiden Open Variation Database of the MUTYH gene
Human mutation
1193605 Denora, Paola S; Schlesinger, David; Casali, Carlo; Kok, Fernando; Tessa, Alessandra; Boukhris, Amir; Azzedine, Hamid; Dotti, Maria Teresa; Bruno, Claudio; Truchetto, Jeremy; Biancheri, Roberta; Fedirko, Estelle; Di Rocco, Maja; Bueno, Clarissa; Malandrini, Alessandro; Battini, Roberta; Sickl, Elisabeth; de Leva, Maria Fulvia; Boespflug-Tanguy, Odile; Silvestri, Gabriella; Simonati, Alessandro; Said, Edith; Ferbert, Andreas; Criscuolo, Chiara; Heinimann, Karl; Modoni, Anna; Weber, Peter; Palmeri, Silvia; Plasilova, Martina; Pauri, Flavia; Cassandrini, Denise; Battisti, Carla; Pini, Antonella; Tosetti, Michela; Hauser, Erwin; Masciullo, Marcella; Di Fabio, Roberto; Piccolo, Francesca; Denis, Elodie; Cioni, Giovanni; Massa, Roberto; Della Giustina, Elvio; Calabrese, Olga; Melone, Marina A B; De Michele, Giuseppe; Federico, Antonio; Bertini, Enrico; Durr, Alexandra; Brockmann, Knut; van der Knaap, Marjo S; Zatz, Mayana; Filla, Alessandro; Brice, Alexis; Stevanin, Giovanni; 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
Showing records 1 - 20 (of 28)
