Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ulrike Siebers"'
Autor:
Martin Gehlen, Anna Maier, Nuri Önder, Ulrike Siebers-Renelt, Karin Mahn, Michael Schwarz-Eywill, Lisa Gerß
Publikováno v:
Aktuelle Rheumatologie. 45:237-244
ZusammenfassungEine Alkaptonurie ist eine seltene Stoffwechselerkrankung, die zu dem klinischen Bild der Ochronose führt. Durch einen genetisch terminierten Enzymdefekt treten bräunliche Pigmentablagerungen in bradytrophen Geweben auf. Klinisch ste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa5459301310959ef80de9b189272d04
https://doi.org/10.1055/a-1058-9738
https://doi.org/10.1055/a-1058-9738
Autor:
Jacob Nattermann, Gabriela Möslein, Christoph Engel, Verena Steinke-Lange, Bertram Wiedenmann, Wolff Schmiegel, Olaf Rieß, Claudia Perne, Robert Hüneburg, Jens K. Habermann, Matthias Kloor, Deepak Vangala, D Heling, Markus Loeffler, Jürgen Weitz, Severin Daum, Guido Fechner, Katrin Hoffmann, Elke Holinski-Feder, Reinhard Büttner, Magnus von Knebel-Döberitz, Tim O. Vilz, Silke Redler, Ulrike Siebers-Renelt, Johanna Tecklenburg, Stefan Aretz, Christian P. Strassburg, Thomas Seufferlein
Publikováno v:
Zeitschrift für Gastroenterologie. 57:1309-1320
Zusammenfassung Einleitung Das Lynch-Syndrom (LS) ist die häufigste Form des erblichen Darmkrebses und verursacht ca. 3 % aller kolorektalen Karzinome (KRK). Ursächlich ist eine pathogene Sequenzvariante in einem Mismatch-Reparaturgen (MLH1, MSH2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::175cf934a235cf399e74a5542b14a017
https://doi.org/10.1055/a-1008-9827
https://doi.org/10.1055/a-1008-9827
Autor:
Barbara Wappenschmidt, Eva Maria Fallenberg, N Herold, Kerstin Rhiem, Denise Horn, Stefanie Pertschy, Karin Kast, Achim Wöckel, Ulrike Siebers-Renelt, Susanne Briest, Marion Kiechle, Walter Just, Christoph Engel, Claus R. Bartram, Markus Loeffler, Dorothee Speiser, Christoph Mundhenke, Karolin Bucksch, AS Vesper, Silke Zachariae, Pauline Wimberger, M Maringa, Nicola Dikow, Jutta Giesecke, Brigitte Schlegelberger, Elena Leinert, Sarah Schott, Eric Hahnen, Ulrich Bick, Rita K. Schmutzler, Anne S. Quante, Simone Reichstein-Gnielinski, Norbert Arnold, Stefanie Weigel, Christine Fischer, Verena Hübbel, Andrea Gehrig, Tanja Fehm
Publikováno v:
International Journal of Cancer. 146:999-1009
Comparably little is known about breast cancer (BC) risks in women from families tested negative for BRCA1/2 mutations despite an indicative family history, as opposed to BRCA1/2 mutation carriers. We determined the age-dependent risks of first and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f796bcd845b569e4e6347529d6276e2b
https://doi.org/10.1002/ijc.32396
https://doi.org/10.1002/ijc.32396
Autor:
Ines Gruber, K Kast, I Holzhauser, C Schroeder, M Wolf, W Habhab, Silke Kaulfuß, Christoph Engel, C. Solbach, U Faust, Dorothee Speiser, R Schmutzler, A-S Vesper, Wolfgang Janni, S Briest, I Witzel, O Rieß, G Günther, Andrea Gehrig, Nadia Harbeck, Norbert Arnold, K Bosse, H Wallaschek, N Dikow, M Kiechle, Ulrike Siebers-Renelt, C Thomssen
Publikováno v:
Geburtshilfe und Frauenheilkunde.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b4f46359102d56d5451ad91effd551
https://doi.org/10.1055/s-0040-1714523
https://doi.org/10.1055/s-0040-1714523
Autor:
Robert, Hüneburg, Stefan, Aretz, Reinhard, Büttner, Severin, Daum, Christoph, Engel, Guido, Fechner, Jens K, Habermann, Dominik, Heling, Katrin, Hoffmann, Elke, Holinski-Feder, Matthias, Kloor, Magnus, von Knebel-Döberitz, Markus, Loeffler, Gabriela, Möslein, Claudia, Perne, Silke, Redler, Olaf, Rieß, Wolff, Schmiegel, Thomas, Seufferlein, Ulrike, Siebers-Renelt, Verena, Steinke-Lange, Johanna, Tecklenburg, Deepak, Vangala, Tim, Vilz, Jürgen, Weitz, Bertram, Wiedenmann, Christian P, Strassburg, Jacob, Nattermann
Publikováno v:
Zeitschrift fur Gastroenterologie. 57(11)
Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome and accounts for ~3 % of all CRCs. This autosomal dominant disorder is caused by germline mutations in DNA mismatch repair genes ( The German Consortium for Familial Intesti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e6368a4ec01b1ba41995b23ebbe469e2
https://pubmed.ncbi.nlm.nih.gov/31739377
https://pubmed.ncbi.nlm.nih.gov/31739377
Autor:
Ana Beleza-Meireles, Andreas Ferbert, Burkhard S. Kasper, Matthias K. Bernhard, Gerhard Schuierer, Ute Hehr, Sabine Hoffjan, Juergen Winkler, Gerhard Kluger, Franziska Mueller, Andreas Hahn, Anne Behnecke, Stephanie Spranger, Eugen Boltshauser, Axel Bohring, Luitgard Graul-Neumann, Max Lange, Katharina Diepold, G. Uyanik, Ulrike Siebers-Renelt, Sandra Janssens, Barbara Oehl-Jaschkowitz, Isolde Schreyer, Frank Rutsch
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b36f311010b3f9136b1910832035b8
https://doi.org/10.5167/uzh-121018
https://doi.org/10.5167/uzh-121018
Publikováno v:
Journal of Bacteriology. 181:225-230
Galactose metabolism in Lactobacillus casei 64H was analyzed by genetic and biochemical methods. Mutants with defects in ptsH , galK , or the tagatose 6-phosphate pathway were isolated either by positive selection using 2-deoxyglucose or 2-deoxygalac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38501ca947f120cd15208ad81b6453b9
https://doi.org/10.1128/jb.181.1.225-230.1999
https://doi.org/10.1128/jb.181.1.225-230.1999
Autor:
Uta Flucke, Volkmar Hans, Theo J. M. Hulsebos, Pieter Wesseling, Susan Kenter, Ulrike Siebers-Renelt
Publikováno v:
American Journal of Surgical Pathology, 38, 421-5
American journal of surgical pathology, 38(3), 421-425. Lippincott Williams and Wilkins
American Journal of Surgical Pathology, 38, 3, pp. 421-5
Hulsebos, T J, Kenter, S, Siebers-Renelt, U, Hans, V, Wesseling, P & Flucke, U 2014, ' SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis ', American Journal of Surgical Pathology, vol. 38, no. 3, pp. 421-425 . https://doi.org/10.1097/PAS.0000000000000110
American Journal of Surgical Pathology, 38(3), 421-425. Lippincott Williams and Wilkins
American journal of surgical pathology, 38(3), 421-425. Lippincott Williams and Wilkins
American Journal of Surgical Pathology, 38, 3, pp. 421-5
Hulsebos, T J, Kenter, S, Siebers-Renelt, U, Hans, V, Wesseling, P & Flucke, U 2014, ' SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis ', American Journal of Surgical Pathology, vol. 38, no. 3, pp. 421-425 . https://doi.org/10.1097/PAS.0000000000000110
American Journal of Surgical Pathology, 38(3), 421-425. Lippincott Williams and Wilkins
Item does not contain fulltext Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas. Here, we report on a 34-year-old female patient who developed multiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1186e4a5076388f807ac205b1b3ca1
http://hdl.handle.net/2066/136760
http://hdl.handle.net/2066/136760
Publikováno v:
Journal of Photochemistry and Photobiology A: Chemistry. 94:231-236
The degradation of 2,4,6-trinitrotoluene (TNT) and 1,3,5-trinitrobenzene (TNB) was studied in irradiated (λ > 320 nm) homogeneous solutions and in TiO2 suspensions by varying the concentration of hydrogen peroxide and the pH. Photodegradation of TNT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e159ad2618f4b03c28c57200eb97c5
https://doi.org/10.1016/1010-6030(95)04210-5
https://doi.org/10.1016/1010-6030(95)04210-5
Autor:
William B. Dobyns, Ulrike Siebers-Renelt, Hanne Hove, Angelika Rieß, Christina Evers, Patrick Willems, Nataliya Tyshchenko, Gorazd Rudolf, James L. McGrath, Winnie Pradel, Maya Chopra, Gerhard Wolff, Jens Bekkebraten, Izak J. Bisschoff, Ketil Heimdal, Deborah J. Morris-Rosendahl, Ann Sophie Kaiser, Dagmar Wieczorek, Erdmut Kunstmann, Peter Jensen, Kristina Lagerstedt Robinson, Bernd Roesler, Katrina E. Prescott, Andreas Busche, Patricia Martin, Denise Horn, Christine Zeschnigk, Maja Linné, Brigitte Wellek, Maja Wessels
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6ef6b09b996b621972b674ee4d08d1
https://www.ncbi.nlm.nih.gov/pubmed/23033313
https://www.ncbi.nlm.nih.gov/pubmed/23033313