Búsqueda | Portal de Búsqueda de la BVS España

1.

Bromodomain 4 inhibition leads to MYCN downregulation in Wilms tumor.

Woods, Andrew D; Berlow, Noah E; Ortiz, Michael V; Dela Cruz, Filemon; Siddiquee, Armaan; Coutinho, Diego F; Purohit, Reshma; Freier, Katherine E Tranbarger; Michalek, Joel E; Lathara, Melvin; Matlock, Kevin; Srivivasa, Ganapati; Royer-Pokora, Brigitte; Veselska, Renata; Kung, Andrew L; Keller, Charles.

Pediatr Blood Cancer; 69(2): e29401, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34693628

2.

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1.

Duhme, Constanze; Busch, Maike; Heine, Eva; de Torres, Carmen; Mora, Jaume; Royer-Pokora, Brigitte.

J Pediatr Hematol Oncol; 43(2): e180-e183, 2021 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-31876779

3.

Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome.

Binder, Hans; Hopp, Lydia; Schweiger, Michal R; Hoffmann, Steve; Jühling, Frank; Kerick, Martin; Timmermann, Bernd; Siebert, Susann; Grimm, Christina; Nersisyan, Lilit; Arakelyan, Arsen; Herberg, Maria; Buske, Peter; Loeffler-Wirth, Henry; Rosolowski, Maciej; Engel, Christoph; Przybilla, Jens; Peifer, Martin; Friedrichs, Nicolaus; Moeslein, Gabriela; Odenthal, Margarete; Hussong, Michelle; Peters, Sophia; Holzapfel, Stefanie; Nattermann, Jacob; Hueneburg, Robert; Schmiegel, Wolff; Royer-Pokora, Brigitte; Aretz, Stefan; Kloth, Michael; Kloor, Matthias; Buettner, Reinhard; Galle, Jörg; Loeffler, Markus.

J Pathol; 243(2): 242-254, 2017 10.

Artículo en Inglés | MEDLINE | ID: mdl-28727142

4.

Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation.

Busch, Maike; Große-Kreul, Jan; Wirtz, Janina Jasmin; Beier, Manfred; Stephan, Harald; Royer-Pokora, Brigitte; Metz, Klaus; Dünker, Nicole.

Int J Cancer; 141(3): 549-560, 2017 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-28481041

5.

Classification of a frameshift/extended and a stop mutation in WT1 as gain-of-function mutations that activate cell cycle genes and promote Wilms tumour cell proliferation.

Busch, Maike; Schwindt, Heinrich; Brandt, Artur; Beier, Manfred; Görldt, Nicole; Romaniuk, Paul; Toska, Eneda; Roberts, Stefan; Royer, Hans-Dieter; Royer-Pokora, Brigitte.

Hum Mol Genet; 23(15): 3958-74, 2014 Aug 01.

Artículo en Inglés | MEDLINE | ID: mdl-24619359

6.

Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.

Yang, Rongxi; Chen, Bowang; Pfütze, Katrin; Buch, Stephan; Steinke, Verena; Holinski-Feder, Elke; Stöcker, Sarah; von Schönfels, Witigo; Becker, Thomas; Schackert, Hans K; Royer-Pokora, Brigitte; Kloor, Matthias; Schmiegel, Wolff H; Büttner, Reinhard; Engel, Christoph; Lascorz Puertolas, Jesus; Försti, Asta; Kunkel, Nelli; Bugert, Peter; Schreiber, Stefan; Krawczak, Michael; Schafmayer, Clemens; Propping, Peter; Hampe, Jochen; Hemminki, Kari; Burwinkel, Barbara.

Carcinogenesis; 35(2): 315-23, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24127187

7.

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer.

Mesher, David; Dove-Edwin, Isis; Sasieni, Peter; Vasen, Hans; Bernstein, Inge; Royer-Pokora, Brigitte; Holinski-Feder, Elke; Lalloo, Fiona; Evans, D Gareth; Forsberg, Anna; Lindblom, Annika; Thomas, Huw.

Int J Cancer; 134(4): 939-47, 2014 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-23901040

8.

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.

Steinke, Verena; Holzapfel, Stefanie; Loeffler, Markus; Holinski-Feder, Elke; Morak, Monika; Schackert, Hans K; Görgens, Heike; Pox, Christian; Royer-Pokora, Brigitte; von Knebel-Doeberitz, Magnus; Büttner, Reinhard; Propping, Peter; Engel, Christoph.

Int J Cancer; 135(1): 69-77, 2014 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-24493211

9.

Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

Busch, Maike; Leube, Barbara; Thiel, Anne; Schanze, Ina; Beier, Manfred; Royer-Pokora, Brigitte.

Am J Med Genet A; 161A(5): 958-64, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23494989

10.

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Classen, Sabrina; Goecke, Timm; Drechsler, Matthias; Betz, Beate; Nickel, Natalie; Beier, Manfred; Schaper, Jörg; Karenfort, Michael; Royer-Pokora, Brigitte.

Am J Med Genet A; 161A(6): 1453-8, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23633430

11.

Genetics of pediatric renal tumors.

Royer-Pokora, Brigitte.

Pediatr Nephrol; 28(1): 13-23, 2013 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-22461142

12.

Gene expression studies of WT1 mutant Wilms tumor cell lines in the frame work of published kidney development data reveals their early kidney stem cell origin.

Royer-Pokora, Brigitte; Wruck, Wasco; Adjaye, James; Beier, Manfred.

PLoS One; 18(1): e0270380, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-36689432

13.

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte; Drost, Mark; Tavtigian, Sean; Hofstra, Robert M W; de Wind, Niels.

Hum Mutat; 33(12): 1617-25, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-22833534

14.

Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

Royer-Pokora, Brigitte; Busch, Maike; Beier, Manfred; Duhme, Constanze; de Torres, Carmen; Mora, Jaume; Brandt, Artur; Royer, Hans-Dieter.

Hum Mol Genet; 19(9): 1651-68, 2010 May 01.

Artículo en Inglés | MEDLINE | ID: mdl-20106868

15.

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak, Monika; Koehler, Udo; Schackert, Hans Konrad; Steinke, Verena; Royer-Pokora, Brigitte; Schulmann, Karsten; Kloor, Matthias; Höchter, Wilhelm; Weingart, Josef; Keiling, Cortina; Massdorf, Trisari; Holinski-Feder, Elke.

J Med Genet; 48(8): 513-9, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-21712435

16.

Frequent long-range epigenetic silencing of protocadherin gene clusters on chromosome 5q31 in Wilms' tumor.

Dallosso, Anthony R; Hancock, Anne L; Szemes, Marianna; Moorwood, Kim; Chilukamarri, Laxmi; Tsai, Hsin-Hao; Sarkar, Abby; Barasch, Jonathan; Vuononvirta, Raisa; Jones, Chris; Pritchard-Jones, Kathy; Royer-Pokora, Brigitte; Lee, Sean Bong; Owen, Ceris; Malik, Sally; Feng, Yi; Frank, Marcus; Ward, Andrew; Brown, Keith W; Malik, Karim.

PLoS Genet; 5(11): e1000745, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19956686

17.

WT1-dependent sulfatase expression maintains the normal glomerular filtration barrier.

Schumacher, Valérie A; Schlötzer-Schrehardt, Ursula; Karumanchi, S Ananth; Shi, Xiaofeng; Zaia, Joseph; Jeruschke, Stefanie; Zhang, Dongsheng; Pavenstädt, Hermann; Pavenstaedt, Hermann; Drenckhan, Astrid; Amann, Kerstin; Ng, Carrie; Hartwig, Sunny; Ng, Kar-Hui; Ho, Jacqueline; Kreidberg, Jordan A; Taglienti, Mary; Royer-Pokora, Brigitte; Ai, Xingbin.

J Am Soc Nephrol; 22(7): 1286-96, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21719793

18.

Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different WT1 Mutations.

Royer-Pokora, Brigitte; Busch, Maike Anna; Tenbusch, Sarah; Schmidt, Mathias; Beier, Manfred; Woods, Andrew D; Thiele, Holger; Mora, Jaume.

Cancers (Basel); 13(1)2020 Dec 28.

Artículo en Inglés | MEDLINE | ID: mdl-33379206

19.

Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.

Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte; Drost, Mark; Tavtigian, Sean; Hofstra, Robert M W; de Wind, Niels.

Hum Mutat; 34(6): 923-4, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-23554108

20.

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

Steinke, Verena; Rahner, Nils; Morak, Monika; Keller, Gisela; Schackert, Hans K; Görgens, Heike; Schmiegel, Wolff; Royer-Pokora, Brigitte; Dietmaier, Wolfgang; Kloor, Matthias; Engel, Christoph; Propping, Peter; Aretz, Stefan.

Eur J Hum Genet; 16(5): 587-92, 2008 May.

Artículo en Inglés | MEDLINE | ID: mdl-18301448

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: