Gonadal and gonadosomatic mosaicism in NF1: report of two families.

Autor: Seidl-Philipp M; Department of Dermatology, Medical University Innsbruck, Innsbruck, Austria., Veyt N; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Schnaiter S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Krogsdam A; Division of Bioinformatics, Biocenter, Medical University Innsbruck, Innsbruck, Austria.; GenomeSeq Core, Biocenter, Medical University Innsbruck, Innsbruck, Austria., Schwendinger S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Maertens O; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA., Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Schmuth M; Department of Dermatology, Medical University Innsbruck, Innsbruck, Austria., Legius E; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Wimmer K; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Brems H; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

Publikováno v: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2024 Mar; Vol. 22 (3), pp. 426-428. Date of Electronic Publication: 2024 Jan 07.

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.

Autor: Locher M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Jukic E; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Vogi V; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Keller MA; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Kröll T; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schwendinger S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Oberhuber K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Verdorfer I; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Mühlegger BE; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Witsch-Baumgartner M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Nachbaur D; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria., Willenbacher W; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.; syndena GmbH, connect to cure, Innsbruck, Austria., Gunsilius E; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria., Wolf D; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.; Medical Clinic 3, Oncology, Hematology, Immunoncology and Rheumatology, University Hospital Bonn, Bonn, Germany., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Steiner N; Internal Medicine V (Hematology & Oncology), Medical University of Innsbruck, Innsbruck, Austria.

Publikováno v: European journal of haematology [Eur J Haematol] 2023 Mar; Vol. 110 (3), pp. 296-304. Date of Electronic Publication: 2022 Dec 04.

Circulating tumor DNA correlates with tumor burden and predicts outcome in pancreatic cancer irrespective of tumor stage.

Autor: Kirchweger P; Gastrointestinal Cancer Center, Linz, Austria; Department of Surgery, Ordensklinikum Linz, Austria; Johannes Kepler University Linz, Medical Faculty, Linz, Austria., Kupferthaler A; Department of Diagnostic and Interventional Radiology, Ordensklinikum Linz, Austria., Burghofer J; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Austria., Webersinke G; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Austria., Jukic E; Institute of Human Genetics, Medical University of Innsbruck, Austria., Schwendinger S; Institute of Human Genetics, Medical University of Innsbruck, Austria., Weitzendorfer M; Department of Surgery, Paracelsus Medical University Salzburg, Salzburg, Austria., Petzer A; Johannes Kepler University Linz, Medical Faculty, Linz, Austria; Department of Internal Medicine I for Hematology with Stem Cell Transplantaation, Hemostaseology and Medical Oncology, Ordensklinikum Linz, Austria., Függer R; Department of Surgery, Ordensklinikum Linz, Austria; Johannes Kepler University Linz, Medical Faculty, Linz, Austria., Rumpold H; Gastrointestinal Cancer Center, Linz, Austria; Johannes Kepler University Linz, Medical Faculty, Linz, Austria., Wundsam H; Department of Surgery, Ordensklinikum Linz, Austria. Electronic address: helwig.wundsam@ordensklinikum.at.

Publikováno v: European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology [Eur J Surg Oncol] 2022 May; Vol. 48 (5), pp. 1046-1053. Date of Electronic Publication: 2021 Dec 01.

Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Autor: Denicolò S; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Vogi V; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Keller F; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Thöni S; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Eder S; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Heerspink HJL; Department of Clinical Pharmacy and Pharmacology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rosivall L; International Nephrology Research and Training Center, Institute of Translational Medicine, Semmelweis University, Budapest., Wiecek A; Department of Nephrology, Transplantation and Internal Medicine, Medical University of Silesia, Katowice, Poland., Mark PB; Institute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, UK., Perco P; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Leierer J; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Kronbichler A; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Steger M; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Schwendinger S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Mayer G; Department of Internal Medicine IV (Nephrology and Hypertension), Medical University Innsbruck, Innsbruck, Austria., Jukic E; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

Publikováno v: Kidney international reports [Kidney Int Rep] 2022 Feb 03; Vol. 7 (4), pp. 876-888. Date of Electronic Publication: 2022 Feb 03 (Print Publication: 2022).

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia-variant.

Autor: Locher M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Jukic E; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Bohn JP; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria., Untergasser G; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria., Steurer M; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria., Cramer CA; Center for Human Genetics, Philipps University of Marburg, Marburg, Germany., Schwendinger S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Vogi V; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Verdorfer I; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Witsch-Baumgartner M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Nachbaur D; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria., Gunsilius E; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria., Wolf D; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.; Medical Clinic III, Oncology, Hematology, Immuno-Oncology and Rheumatology, University Hospital Bonn, Bonn, Germany., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Steiner N; Department of Internal Medicine V, Medical University of Innsbruck, Innsbruck, Austria.

Publikováno v: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2021 Apr; Vol. 60 (4), pp. 287-292. Date of Electronic Publication: 2020 Dec 12.