Browse by Basel Contributors ID

2011

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 Shimojima, Keiko and Okamoto, Nobuhiko and Röthlisberger, Benno and Weber, Peter and Huber, Andreas R. and Nishizawa, Tsutomu and Datta, Alexandre N. and Miny, Peter and Yamamoto, Toshiyuki. (2011) Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of medical genetics, Vol. 48, H. 2. pp. 117-122.

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, 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 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.

Dettmer, Matthias and Itin, Peter and Miny, Peter and Gandhi, Manoj and Cathomas, Gieri and Willi, Niels. (2011) Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? Diagnostic Pathology, 6 (75). pp. 1-6.

2010

Vogler, Christian and Gschwind, Leo and Röthlisberger, Benno and Huber, Andreas and Filges, Isabel and Miny, Peter and Auschra, Bianca and Stetak, Attila and Demougin, Philippe and Vukojevic, Vanja and Kolassa, Iris-Tatjana and Elbert, Thomas and de Quervain, Dominique J.-F. and Papassotiropoulos, Andreas. (2010) Microarray-based maps of copy-number variant regions in European and sub-saharan populations. PLoS ONE, 5 (12). e15246.

Binkert, Franz and Spreiz, Ana and Höckner, Martina and Miny, Peter and von Dach Leu, Brigitte and Erdel, Martin and Zschocke, Johannes and Utermann, Gerd and Kotzot, Dieter. (2010) Parental origin and mechanism of formation of a 46,X,der(X)(pter--<q21.1::p11.4--<pter)/45,X karyotype in a woman with mild Turner syndrome. Fertility and sterility, Vol. 94, H. 1 , 350.e12-5.

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.

van Kuilenburg, A. B. P. and Meijer, J. and Gökcay, G. and Baykal, T. and Rubio-Gozalbo, M. E. and Mul, A. N. P. M. and de Die-Smulders, C. E. M. and Weber, P. and Mori, A. Capone and Bierau, J. and Fowler, B. and Macke, K. and Sass, J. O. and Meinsma, R. and Hennermann, J. B. and Miny, P. and Zoetekouw, L. and Roelofsen, J. and Vijzelaar, R. and Nicolai, J. and Hennekam, R. C. M.. (2010) Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides, nucleotides & nucleic acids, Vol. 29, H. 4-6. pp. 509-514.

2009

van Kuilenburg, André B. P. and Meijer, Judith and Mul, Adri N. P. M. and Hennekam, Raoul C. M. and Hoovers, Jan M. N. and de Die-Smulders, Christine E. M. and Weber, Peter and Mori, Andrea Capone and Bierau, Jörgen and Fowler, Brian and Macke, Klaus and Sass, Jörn Oliver and Meinsma, Rutger and Hennermann, Julia B. and Miny, Peter and Zoetekouw, Lida and Vijzelaar, Raymon and Nicolai, Joost and Ylstra, Bauke and Rubio-Gozalbo, M. Estela. (2009) Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Human genetics, Vol. 125, H. 5-6. pp. 581-590.

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.

Siitonen, H. A. and Sotkasiira, J. and Biervliet, M. and Benmansour, A. and Capri, Y. and Cormier-Daire, V. and Crandall, B. and Hannula-Jouppi, K. and Hennekam, R. and Herzog, D. and Keymolen, K. and Lipsanen-Nyman, M. and Miny, P. and Plon, S. E. and Riedl, S. and Sarkar, A. and Vargas, F. R. and Verloes, A. and Wang, L. L. and Kääriäinen, H. and Kestilä, M.. (2009) The mutation spectrum in RECQL4 diseases. European journal of human genetics : EJHG : the official journal of the European Society of Human Genetics, Vol. 17. pp. 151-158.

2008

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.