Items where Author is "Miny, Peter"

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

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.

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.

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 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.

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.

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.