Publications
Showing records 1 - 20 (of 28)
Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
Author
Year
Title
Publisher
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
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
1195828 Burger, B.; Cattani, N.; Trueb, S.; de Lorenzo, R.; Albertini, M.; Bontognali, E.; Itin, C.; Schaub, N.; Itin, P. H.; Heinimann, K.
2011
Prevalence of skin lesions in familial adenomatous polyposis : a marker for presymptomatic diagnosis?
The Oncologist
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
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
1194283 Filges, Isabel; Kang, Anjeung; Klug, Vanessa; Wenzel, Friedel; Heinimann, Karl; Tercanli, Sevgi; Miny, Peter
2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
Prenatal diagnosis
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
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
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
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
1195683 Fischmann, Arne; Gloor, Monika; Fasler, Susanne; Haas, Tanja; Rodoni Wetzel, Rachele; Bieri, Oliver; Wetzel, Stephan; Heinimann, Karl; Scheffler, Klaus; Fischer, Dirk
2011
Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy
Journal of neurology
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
1192681 Gloor, Monika; Fasler, Susanne; Fischmann, Arne; Haas, Tanja; Bieri, Oliver; Heinimann, Karl; Wetzel, Stephan G; Scheffler, Klaus; Fischer, Dirk
2011
Quantification of fat infiltration in oculopharyngeal muscular dystrophy : comparison of three MR imaging methods
Journal of magnetic resonance imaging
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
1195322 Jaeger,E; Webb,E; Howarth,K; Carvajal-Carmona,L; Rowan,A; Broderick,P; Walther,A; Spain,S; Pittman,A; Kemp,Z; Sullivan,K; Heinimann,K; Lubbe,S; Domingo,E; Barclay,E; Martin,L; Gorman,M; Chandler,I; Vijayakrishnan,J; Wood,W; Papaemmanuil,E; Penegar,S; Qureshi,M; CORGI,Consortium; Farrington,S; Tenesa,A; Cazier,JB; Kerr,D; Gray,R; Peto,J; Dunlop,M; Campbell,H; Thomas,H; Houlston,R; Tomlinson,I
2008
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk
Nature genetics
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
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
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
1194552 Necker, Judith; Kovac, Michal; Attenhofer, Michèle; Reichlin, Bruno; 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
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
Showing records 1 - 20 (of 28)
