Búsqueda | Portal de Búsqueda de la BVS España

1.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Léa; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A J; Evans, D Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A; Baris Feldman, Hagit; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoît; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J; Kratz, Christian P; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jürgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M; Wimmer, Katharina; Burn, John; Jackson, Michael S; Santibanez-Koref, Mauro.

Gastroenterology; 164(4): 579-592.e8, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36586540

2.

Perception and management of cancer predisposition in pediatric cancer centers: A European-wide questionnaire-based survey.

Lazic, Jelena; Haas, Oskar A; Özbek, Ugur; Ripperger, Tim; Byrjalsen, Anna; Te Kronnie, Geertruij.

Pediatr Blood Cancer; 70(5): e30229, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-36860090

3.

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin, Benoît; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Jürgen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, Thomas; Demirsoy, Ugur; Brunet, Joan; Lázaro, Conxi; Rueda, Daniel; Wimmer, Katharina; Capellá, Gabriel; Pineda, Marta.

J Med Genet; 57(4): 269-273, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31494577

4.

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Niemann, Jan Hendrik; Du, Chen; Morlot, Susanne; Schmidt, Gunnar; Auber, Bernd; Kaune, Beate; Göhring, Gudrun; Ripperger, Tim; Schlegelberger, Brigitte; Hofmann, Winfried; Smol, Thomas; Ait-Yahya, Emilie; Raimbault, Anna; Lambilliotte, Anne; Petit, Florence; Steinemann, Doris.

Clin Genet; 98(4): 374-378, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32627184

5.

Seeding the future: the natural history of RUNX1 deficiency.

Ripperger, Tim.

Blood; 142(25): 2127-2128, 2023 12 21.

Artículo en Inglés | MEDLINE | ID: mdl-38127412

6.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Suerink, Manon; Ripperger, Tim; Messiaen, Ludwine; Menko, Fred H; Bourdeaut, Franck; Colas, Chrystelle; Jongmans, Marjolijn; Goldberg, Yael; Nielsen, Maartje; Muleris, Martine; van Kouwen, Mariëtte; Slavc, Irene; Kratz, Christian; Vasen, Hans F; BrugiÑres, Laurence; Legius, Eric; Wimmer, Katharina.

J Med Genet; 56(2): 53-62, 2019 02.

Artículo en Inglés | MEDLINE | ID: mdl-30415209

7.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören-Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P; Ripperger, Tim; Azizi, Amedeo A; Baris Feldman, Hagit; Chong, Anne-Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Januszkiewicz-Lewandowska, Danuta; Lobitz, Stephan; Nathrath, Michaela; Pander, Hans-Jürgen; Perez-Alonso, Vanesa; Perne, Claudia; Ragab, Iman; Rosenbaum, Thorsten; Rueda, Daniel; Seidel, Markus G; Suerink, Manon; Taeubner, Julia; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M; Burn, John; Jackson, Michael S; Santibanez-Koref, Mauro; Wimmer, Katharina.

Hum Mutat; 40(5): 649-655, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30740824

8.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.

Suerink, Manon; Rodríguez-Girondo, Mar; van der Klift, Heleen M; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noémie; Jongmans, Marjolijn; Munar, Gabriel Capellá; Evans, D Gareth; Farrell, Michael P; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica I; Aretz, Stefan; Jasperson, Kory W; Kedar, Inbal; Modi, Mitul B; Nikolaev, Sergey; van Os, Theo A M; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G; Trainer, Alison H; Vos, Yvonne J; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y; Vasen, Hans F; van Asperen, Christi J; Houwing-Duistermaat, Jeanine J; Ten Broeke, Sanne W; Nielsen, Maartje.

Genet Med; 21(12): 2706-2712, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31204389

9.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi, Bianca; Davidsson, Josef; Voss, Matthias; Rahikkala, Elisa; Holmes, Tim D; Chiang, Samuel C C; Komulainen-Ebrahim, Jonna; Gorcenco, Sorina; Rundberg Nilsson, Alexandra; Ripperger, Tim; Kokkonen, Hannaleena; Bryder, David; Fioretos, Thoas; Henter, Jan-Inge; Möttönen, Merja; Niinimäki, Riitta; Nilsson, Lars; Pronk, Cornelis Jan; Puschmann, Andreas; Qian, Hong; Uusimaa, Johanna; Moilanen, Jukka; Tedgård, Ulf; Cammenga, Jörg; Bryceson, Yenan T.

Blood; 129(16): 2266-2279, 2017 04 20.

Artículo en Inglés | MEDLINE | ID: mdl-28202457

10.

Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

Golas, Monika M; Auber, Bernd; Ripperger, Tim; Pabst, Brigitte; Schmidt, Gunnar; Morlot, Michel; Diebold, Uta; Steinemann, Doris; Schlegelberger, Brigitte; Morlot, Susanne.

Am J Med Genet A; 179(7): 1383-1389, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31062505

11.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert, Judith; Schmidt, Gunnar; Hofmann, Winfried; Schubert, Stephanie; Schieck, Maximilian; Auber, Bernd; Ripperger, Tim; Hackmann, Karl; Sturm, Marc; Prokisch, Holger; Hille-Betz, Ursula; Mark, Dorothea; Illig, Thomas; Schlegelberger, Brigitte; Steinemann, Doris.

Breast Cancer Res; 20(1): 87, 2018 08 07.

Artículo en Inglés | MEDLINE | ID: mdl-30086788

12.

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

Behnert, Astrid; Auber, Bernd; Steinemann, Doris; Frühwald, Michael C; Huisinga, Carolin; Hussein, Kais; Kratz, Christian; Ripperger, Tim.

Am J Med Genet A; 176(6): 1449-1454, 2018 06.

Artículo en Inglés | MEDLINE | ID: mdl-29696793

13.

Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.

Maletzki, Claudia; Huehns, Maja; Bauer, Ingrid; Ripperger, Tim; Mork, Maureen M; Vilar, Eduardo; Klöcking, Sabine; Zettl, Heike; Prall, Friedrich; Linnebacher, Michael.

Mol Carcinog; 56(7): 1753-1764, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28218421

14.

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

Ripperger, Tim; Bielack, Stefan S; Borkhardt, Arndt; Brecht, Ines B; Burkhardt, Birgit; Calaminus, Gabriele; Debatin, Klaus-Michael; Deubzer, Hedwig; Dirksen, Uta; Eckert, Cornelia; Eggert, Angelika; Erlacher, Miriam; Fleischhack, Gudrun; Frühwald, Michael C; Gnekow, Astrid; Goehring, Gudrun; Graf, Norbert; Hanenberg, Helmut; Hauer, Julia; Hero, Barbara; Hettmer, Simone; von Hoff, Katja; Horstmann, Martin; Hoyer, Juliane; Illig, Thomas; Kaatsch, Peter; Kappler, Roland; Kerl, Kornelius; Klingebiel, Thomas; Kontny, Udo; Kordes, Uwe; Körholz, Dieter; Koscielniak, Ewa; Kramm, Christof M; Kuhlen, Michaela; Kulozik, Andreas E; Lamottke, Britta; Leuschner, Ivo; Lohmann, Dietmar R; Meinhardt, Andrea; Metzler, Markus; Meyer, Lüder H; Moser, Olga; Nathrath, Michaela; Niemeyer, Charlotte M; Nustede, Rainer; Pajtler, Kristian W; Paret, Claudia; Rasche, Mareike; Reinhardt, Dirk.

Am J Med Genet A; 173(4): 1017-1037, 2017 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-28168833

15.

The heteromeric transcription factor GABP activates the ITGAM/CD11b promoter and induces myeloid differentiation.

Ripperger, Tim; Manukjan, Georgi; Meyer, Johann; Wolter, Sabine; Schambach, Axel; Bohne, Jens; Modlich, Ute; Li, Zhixiong; Skawran, Britta; Schlegelberger, Brigitte; Steinemann, Doris.

Biochim Biophys Acta; 1849(9): 1145-54, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26170143

16.

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan, Claire C; King-Smith, Sarah L; Lawrence, David M; Arts, Peer; Feng, Jinghua; Andrews, James; Armstrong, Mark; Ha, Thuong; Dobbins, Julia; Drazer, Michael W; Yu, Kai; Bödör, Csaba; Cantor, Alan; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D; Duployez, Nicolas; Favier, Remi; Fröhling, Stefan; Fitzgibbon, Jude; Klco, Jeffery M; Krämer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Liu, Paul; Godley, Lucy A; Schreiber, Andreas W; Hahn, Christopher N; Scott, Hamish S; Brown, Anna L.

Haematologica; 106(11): 3004-3007, 2021 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-34233450

17.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya.

Am J Med Genet A; 170A(1): 94-102, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26358559

18.

Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.

von Hardenberg, Sandra; Richter, Manuela F; Hethey, Sven; Yaspo, Marie-Laure; Auber, Bernd; Schlegelberger, Brigitte; Illig, Thomas; Guthmann, Florian; Christen, Hans-Jürgen; Ripperger, Tim; Bergmann, Anke K.

Brain; 143(11): e91, 2020 12 05.

Artículo en Inglés | MEDLINE | ID: mdl-33146701

19.

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies.

Schlegelberger, Brigitte; Kreipe, Hans; Lehmann, Ulrich; Steinemann, Doris; Ripperger, Tim; Göhring, Gudrun; Thomay, Kathrin; Rump, Andreas; Di Donato, Nataliya; Suttorp, Meinolf.

Pediatr Blood Cancer; 62(8): 1481-4, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25787918

20.

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Ripperger, Tim; Hofmann, Winfried; Koch, Jan C; Shirneshan, Katayoon; Haase, Detlef; Wulf, Gerald; Issing, Peter R; Karnebogen, Matthias; Schmidt, Gunnar; Auber, Bernd; Schlegelberger, Brigitte; Illig, Thomas; Zirn, Birgit; Steinemann, Doris.

Haematologica; 103(2): e55-e58, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29097497

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: