检索结果 - Maaike P.G. Vreeswijk
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Intronic variants in<i>BRCA1</i>and<i>BRCA2</i>that affect RNA splicing can be reliably selected by splice-site prediction programs 由 Maaike P.G. Vreeswijk, Jaco Kraan, Heleen M. van der Klift, Geraldine R. Vink, Cees J. Cornelisse, Juul Wijnen, Egbert Bakker, Christi J. van Asperen, Peter Devilee
出版 2008Artigo -
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Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation 由 Álvaro N.A. Monteiro, Peter Bouwman, Arne Nedergaard Kousholt, Diana Eccles, Gaël A. Millot, Jean‐Yves Masson, Marjanka K. Schmidt, Shyam K. Sharan, Ralph Scully, Lisa Wiesmüller, Fergus J. Couch, Maaike P.G. Vreeswijk
出版 2020Revisão -
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The effects of short-term fasting on tolerance to (neo) adjuvant chemotherapy in HER2-negative breast cancer patients: a randomized pilot study 由 Stefanie de Groot, Maaike P.G. Vreeswijk, Marij J.P. Welters, Gido Gravesteijn, J.J.W.A. Boei, Anouk Jochems, Daniel Houtsma, Hein Putter, Jacobus JM van der Hoeven, J.W.R. Nortier, Hanno Pijl, Judith R. Kroep
出版 2015Artigo -
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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2 由 Rick A.C.M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P.G. Vreeswijk, Fergus J. Couch, Jacques Simard, Peter Devilee, Jean‐Yves Masson, Haico van Attikum
出版 2019Artigo -
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Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-<i>BRCA1/2</i>breast cancer families 由 Inge M. M. Lakeman, Florentine Hilbers, Mar Rodríguez‐Girondo, Andrew Lee, Maaike P.G. Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers‐Heijboer, Jan C. Oosterwijk, Nicoline Hoogerbrugge, Edith Oláh, Hans F. A. Vasen, Christi J. van Asperen, Peter Devilee
出版 2019Artigo -
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The RECAP Test Rapidly and Reliably Identifies Homologous Recombination-Deficient Ovarian Carcinomas 由 Lise M. van Wijk, Sylvia Vermeulen, Matty Meijers, Manuela F. van Diest, Natalja T. ter Haar, Marthe M. de Jonge, Nienke Solleveld‐Westerink, Tom van Wezel, Dik C. van Gent, Judith R. Kroep, Tjalling Bosse, Katja N. Gaarenstroom, Harry Vrieling, Maaike P.G. Vreeswijk
出版 2020Artigo -
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Functional Analysis Identifies Damaging<i>CHEK2</i>Missense Variants Associated with Increased Cancer Risk 由 Rick A.C.M. Boonen, Wouter W. Wiegant, Nandi Celosse, Bas Vroling, Stephan Heijl, Zsofia Kote‐Jarai, Martina Mijušković, Simona Cristea, Nienke Solleveld‐Westerink, Tom van Wezel, Niko Beerenwinkel, Rosalind A. Eeles, Peter Devilee, Maaike P.G. Vreeswijk, Giancarlo Marra, Haico van Attikum
出版 2021Artigo -
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Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases 由 Petra E.A. Huijts, Maaike P.G. Vreeswijk, Karin Kroeze‐Jansema, Catharina E. Jacobi, Caroline Seynaeve, Elly MM Krol-Warmerdam, Pauline M. Wijers‐Koster, Jannet Blom, Karen A. Pooley, Jan G.M. Klijn, Rob A.�E.�M. Tollenaar, Peter Devilee, Christi J. van Asperen
出版 2007Artigo -
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A guide for functional analysis of<i>BRCA1</i>variants of uncertain significance 由 Gaël A. Millot, Marcelo A. Carvalho, Sandrine M. Caputo, Maaike P.G. Vreeswijk, Melissa A. Brown, Michelle Webb, Étienne Rouleau, Susan L. Neuhausen, Thomas van Overeem Hansen, Alvaro Galli, Rita D. Brandão, Marinus J. Blok, Aneliya Velkova, Fergus J. Couch, Álvaro N.A. Monteiro
出版 2012Revisão -
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Germline <i>BRCA</i>-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity 由 Marthe M. de Jonge, Lauren L. Ritterhouse, Cor D. de Kroon, Maaike P.G. Vreeswijk, Jeremy P. Segal, Rutika Puranik, Harry Hollema, Matti A. Rookus, Christi J. van Asperen, Flora E. van Leeuwen, Vincent T.H.B.M. Smit, Brooke E. Howitt, Tjalling Bosse
出版 2019Artigo -
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Functional <i>Ex Vivo</i> Assay to Select Homologous Recombination–Deficient Breast Tumors for PARP Inhibitor Treatment 由 Kishan A.T. Naipal, Nicole S. Verkaik, Najim Ameziane, Carolien H. M. van Deurzen, Petra ter Brugge, Matty Meijers, Anieta M. Sieuwerts, John W.M. Martens, Mark J. O’Connor, Harry Vrieling, Jan H.J. Hoeijmakers, Jos Jonkers, Roland Kanaar, Johan P. de Winter, Maaike P.G. Vreeswijk, Agnes Jager, Dik C. van Gent
出版 2014Artigo -
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Frequent Homologous Recombination Deficiency in High-grade Endometrial Carcinomas 由 Marthe M. de Jonge, Aurélie Auguste, Lise M. van Wijk, Philip C. Schouten, Matty Meijers, Natalja T. ter Haar, Vincent T.H.B.M. Smit, Remi A. Nout, Mark A. Glaire, David N. Church, Harry Vrieling, Bastien Job, Yannick Boursin, Cor D. de Kroon, Étienne Rouleau, Alexandra Léary, Maaike P.G. Vreeswijk, Tjalling Bosse
出版 2018Artigo -
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Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease 由 Neil V. Morgan, Mark R. Morris, Hakan Cangül, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas P. Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P.G. Vreeswijk, Peter Devilee, Margaret A. Knowles, Serdar Ceylaner, Richard C. Trembath, Carlos Dalence, Erol Kısmet, Vedat Köseoğlu, Hans‐Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R. Maher
出版 2010Artigo -
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report 由 Amanda B. Spurdle, Stephanie Greville‐Heygate, Antonis C. Antoniou, Melissa A. Brown, Leslie Burke, Miguel de la Hoya, Susan M. Domchek, Thilo Dörk, Helen V. Firth, Álvaro N.A. Monteiro, Arjen R. Mensenkamp, Michael T. Parsons, Paolo Radice, Mark E. Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike P.G. Vreeswijk, Logan C. Walker, Sean V. Tavtigian, Diana Eccles
出版 2019Artigo -
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A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example 由 Leila Mohammadi, Maaike P.G. Vreeswijk, Rogier A. Oldenburg, Ans van den Ouweland, Jan C. Oosterwijk, Annemarie H. van der Hout, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Margreet G.E.M. Ausems, Rob B. van der Luijt, Charlotte J. Dommering, Gilles Thomas, Senno Verhoef, Frans B.L. Hogervorst, Theo A. van Os, E. Gómez, Marinus J. Blok, Juul Wijnen, Quinta Helmer, Peter Devilee, Christi J. van Asperen, Hans C. van Houwelingen
出版 2009Artigo -
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BRCA1 Circos: a visualisation resource for functional analysis of missense variants 由 Ankita Jhuraney, Aneliya Velkova, Randall C. Johnson, Bailey Kessing, Renato S. Carvalho, Phillip J Whiley, Amanda B. Spurdle, Maaike P.G. Vreeswijk, Sandrine M. Caputo, Gaël A. Millot, Ana Vega, Nicolas Coquelle, Alvaro Galli, Diana Eccles, Marinus J. Blok, Tuya Pal, Rob B. van der Luijt, Marta Santamariña Pena, Susan L. Neuhausen, Talia Donenberg, Eva Macháčková, Simon Thomas, Maxime Vallée, Fergus J. Couch, Sean V. Tavtigian, J. N. Mark Glover, Marcelo A. Carvalho, Lawrence C. Brody, Shyam K. Sharan, Álvaro N.A. Monteiro
出版 2015Artigo
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