Items where Division is "03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)"

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Al-Kateb, Hussam and Khanna, Geetika and Filges, Isabel and Hauser, Natalie and Grange, Dorothy K. and Shen, Joseph and Smyser, Christopher D. and Kulkarni, Shashikant and Shinawi, Marwan. (2014) Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. American journal of medical genetics. Part A, 164A (5). pp. 1118-1126.


Buerki, 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.


Burger, B. and Cattani, N. and Trueb, S. and de Lorenzo, R. and Albertini, M. and Bontognali, E. and Itin, C. and Schaub, N. and Itin, P. H. and Heinimann, K.. (2011) Prevalence of skin lesions in familial adenomatous polyposis : a marker for presymptomatic diagnosis? The Oncologist, 16 (12). pp. 1698-1705.

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.

Filges, I. and Röthlisberger, B. and Blattner, A. and Boesch, N. and Demougin, P. and Wenzel, F. and Huber, A. R. and Heinimann, K. and Weber, P. and Miny, P.. (2011) Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. Clinical genetics, Vol. 79, H. 1. pp. 79-85.

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.

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, 96 (4). pp. 851-855.

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.

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.

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.


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.

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.

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.

Kantelinen, J. and Kansikas, M. and Korhonen, M. K. and Ollila, S. and Heinimann, K. and Kariola, R. and Nyström, M.. (2010) MutSbeta exceeds MutSalpha in dinucleotide loop repair. British journal of cancer, Vol. 102, no. 6. pp. 1068-1073.

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.

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.

Vasen, H. F. A. and Möslein, G. and Alonso, A. and Aretz, S. and Bernstein, I. and Bertario, L. and Blanco, I. and Bulow, S. and Burn, J. and Capella, G. and Colas, C. and Engel, C. and Frayling, I. and Rahner, N. and Hes, F. J. and Hodgson, S. and Mecklin, J.-P. and Møller, P. and Myrhøj, T. and Nagengast, F. M. and Parc, Y. and Ponz de Leon, M. and Renkonen-Sinisalo, L. and Sampson, J. R. and Stormorken, A. and Tejpar, S. and Thomas, H. J. W. and Wijnen, J. and Lubinski, J. and Järvinen, H. and Claes, E. and Heinimann, K. and Karagiannis, J. A. and Lindblom, A. and Dove-Edwin, I. and Müller, H.. (2010) Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial cancer, Vol. 9, H. 2. pp. 109-115.

Zlobec, I. and Molinari, F. and Kovac, M. and Bihl, M. P. and Altermatt, H. J. and Diebold, J. and Frick, H. and Germer, M. and Horcic, M. and Montani, M. and Singer, G. and Yurtsever, H. and Zettl, A. and Terracciano, L. and Mazzucchelli, L. and Saletti, P. and Frattini, M. and Heinimann, K. and 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, Vol. 102, no. 1. pp. 151-161.

Zlobec, 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.

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.


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.

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.

Templeton, 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.


Bujalkova, 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.

Filges, I. and Röthlisberger, B. and Wenzel, F. and Heinimann, K. and Huber, A. R. and Miny, P.. (2008) Mosaic ring chromosome 8 : clinical and array-CGH findings in partial trisomy 8. American journal of medical genetics. Part A, Vol. 146, H. 21. pp. 2837-2841.

Jaeger, E. and Webb, E. and Howarth, K. and Carvajal-Carmona, L. and Rowan, A. and Broderick, P. and Walther, A. and Spain, S. and Pittman, A. and Kemp, Z. and Sullivan, K. and Heinimann, K. and Lubbe, S. and Domingo, E. and Barclay, E. and Martin, L. and Gorman, M. and Chandler, I. and Vijayakrishnan, J. and Wood, W. and Papaemmanuil, E. and Penegar, S. and Qureshi, M. and Corgi, Consortium and Farrington, S. and Tenesa, A. and Cazier, J. B. and Kerr, D. and Gray, R. and Peto, J. and Dunlop, M. and Campbell, H. and Thomas, H. and Houlston, R. and Tomlinson, I.. (2008) Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nature genetics, Vol. 40, H. 1. pp. 26-28.

Oliveira, J. and Santos, R. and Soares-Silva, I. and Jorge, P. and Vieira, E. and Oliveira, M. E. and Moreira, A. and Coelho, T. and Ferreira, J. C. and Fonseca, M. J. and Barbosa, C. and Prats, J. and Aríztegui, M. L. and Martins, M. L. and Moreno, T. and Heinimann, K. and Barbot, C. and Pascual-Pascual, S. I. and Cabral, A. and Fineza, I. and Santos, M. and Bronze-da-Rocha, E.. (2008) LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical genetics, Vol. 74, H. 6. pp. 502-512.

This list was generated on Wed Jun 12 03:52:11 2024 CEST.