Items where Author is "Wenzel, Friedel"

2014

Kishore, 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, Vol. 74,1 , S. 224–234.

2011

Filges, 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, Vol. 96, H. 4. pp. 851-855.

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.

Filges, Isabel and Kang, Anjeung and Hench, Jürgen and Wenzel, Friedel and Bruder, Elisabeth and Miny, Peter and Tercanli, Sevgi. (2011) Fetal polydactyly : a study of 24 cases ascertained by prenatal sonography. Journal of ultrasound in medicine, Vol. 30, H. 7. pp. 1021-1029.

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.

2010

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.

2009

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.