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Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.

Autor: Horpaopan S; Institute of Human Genetics, University of Bonn, Bonn, Germany., Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S

Publikováno v: International journal of cancer [Int J Cancer] 2015 Mar 15; Vol. 136 (6), pp. E578-89. Date of Electronic Publication: 2014 Sep 30.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Autor: Basmanav FB; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Oprisoreanu AM; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany., Pasternack SM; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany., Fritz G; Department of Neuropathology, Neurozentrum, University of Freiburg, D-79106 Freiburg, Germany., Wenzel J; Department of Dermatology, University of Bonn, D-53127 Bonn, Germany., Größer L; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany., Wehner M; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Wolf S; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, DK-5000 Odense, Denmark., Bygum A; Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany., Rütten A; Laboratory of Dermatohistopathology, D-88048 Friedrichshafen, Germany., Parmentier L; Department of Dermatology, Berne University Hospital, CH-3008 Berne, Switzerland., El Shabrawi-Caelen L; Department of Dermatology, Medical University of Graz, A-8036 Graz, Austria., Hafner C; Department of Dermatology, University of Regensburg, D-93053 Regensburg, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, D-50931 Cologne, Germany; Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany., Kruse R; Dermatological Practice, D-33098 Paderborn, Germany., Schoch S; Department of Neuropathology and Department of Epileptology, University of Bonn, D-53127 Bonn, Germany., Hanneken S; Department of Dermatology, University Hospital Düsseldorf, D-40225 Düsseldorf, Germany., Betz RC; Institute of Human Genetics, University of Bonn, D-53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 Jan 02; Vol. 94 (1), pp. 135-43.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Autor: Pasternack SM; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC

Publikováno v: American journal of human genetics [Am J Hum Genet] 2013 Jan 10; Vol. 92 (1), pp. 81-7. Date of Electronic Publication: 2012 Dec 13.

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Autor: Giehl KA; Center for Rare and Genetic Skin Diseases, Department of Dermatology, Ludwig Maximilians University, 80337 Munich, Germany. kathrin.giehl@med.uni-muenchen.de, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM

Publikováno v: American journal of human genetics [Am J Hum Genet] 2012 Oct 05; Vol. 91 (4), pp. 754-9. Date of Electronic Publication: 2012 Sep 20.