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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
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
Combined analysis of specific KRAS mutation, BRAF and microsatellite instability identifies prognostic subgroups of sporadic and hereditary colorectal cancer
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
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
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