Works matching AU Blok, Marinus J.

Results: 20

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896

By:

Fokkema, Ivo F. A. C.;
Velde, Kasper J.;
Slofstra, Mariska K.;
Ruivenkamp, Claudia A. L.;
Vogel, Maartje J.;
Pfundt, Rolph;
Blok, Marinus J.;
Lekanne Deprez, Ronald H.;
Waisfisz, Quinten;
Abbott, Kristin M.;
Sinke, Richard J.;
Rahman, Rubayte;
Nijman, Isaäc J.;
Koning, Bart;
Thijs, Gert;
Wieskamp, Nienke;
Moritz, Ruben J. G.;
Charbon, Bart;
Saris, Jasper J.;
den Dunnen, Johan T.

Publication type:

Article

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Published in:

Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137

By:

Weren, Robbert D.A.;
Mensenkamp, Arjen R.;
Simons, Michiel;
Eijkelenboom, Astrid;
Sie, Aisha S.;
Ouchene, Hicham;
Asseldonk, Monique;
Gomez‐Garcia, Encarna B.;
Blok, Marinus J.;
Hullu, Joanne A.;
Nelen, Marcel R.;
Hoischen, Alexander;
Bulten, Johan;
Tops, Bastiaan B.J.;
Hoogerbrugge, Nicoline;
Ligtenberg, Marjolijn J.L.

Publication type:

Article

A guide for functional analysis of BRCA1 variants of uncertain significance.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1526, doi. 10.1002/humu.22150

By:

Millot, Gaël A.;
Carvalho, Marcelo A.;
Caputo, Sandrine M.;
Vreeswijk, Maaike P.G.;
Brown, Melissa A.;
Webb, Michelle;
Rouleau, Etienne;
Neuhausen, Susan L.;
Hansen, Thomas v. O.;
Galli, Alvaro;
Brandão, Rita D.;
Blok, Marinus J.;
Velkova, Aneliya;
Couch, Fergus J.;
Monteiro, Alvaro N.A.

Publication type:

Article

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2018, doi. 10.1002/humu.21416

By:

Paulussen, Aimée D. C.;
Stegmann, Alexander P. A.;
Blok, Marinus J.;
Tserpelis, Demis;
Posma-Velter, Crool;
Detisch, Yvonne;
Smeets, Eric E. J. G. L.;
Wagemans, Annemieke;
Schrander, Jaap J. P.;
van den Boogaard, Marie-José H.;
van der Smagt, Jasper;
van Haeringen, Arie;
Stolte-Dijkstra, Irene;
Kerstjens-Frederikse, Wilhelmina S.;
Mancini, Grazia M.;
Wessels, Marja W.;
Hennekam, Raoul C. M.;
Vreeburg, Maaike;
Geraedts, Joep;
de Ravel, Thomy

Publication type:

Article

Diagnostic Value of Nucleic-Acid-Sequence- Based Amplification for the Detection of Cytomegalovirus Infection in Renal and Liver Transplant Recipients.

Published in:

Intervirology, 1999, v. 42, n. 5/6, p. 373, doi. 10.1159/000053974

By:

Goossens, Valère J.;
Blok, Marinus J.;
Christiaans, Maarten H.L.;
van Hooff, Johannes P.;
Sillekens, Peter;
Höckerstedt, K.;
Lautenschlager, Irmeli;
Middeldorp, Jaap M.;
Bruggeman, Cathrien A.

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article

Growth Pattern in Kabuki Syndrome with a KMT2D Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3172, doi. 10.1002/ajmg.a.37930

By:

Schott, Dina A.;
Blok, Marinus J.;
Gerver, Willem J. M.;
Devriendt, Koenraad;
Zimmermann, Luc J. I.;
Stumpel, Constance T. R. M.

Publication type:

Article

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

Published in:

Cancers, 2021, v. 13, n. 17, p. 4430, doi. 10.3390/cancers13174430

By:

Wieme, Greet;
Kral, Jan;
Rosseel, Toon;
Zemankova, Petra;
Parton, Bram;
Vocka, Michal;
Van Heetvelde, Mattias;
Kleiblova, Petra;
Blaumeiser, Bettina;
Soukupova, Jana;
van den Ende, Jenneke;
Nehasil, Petr;
Tejpar, Sabine;
Borecka, Marianna;
Gómez García, Encarna B.;
Blok, Marinus J.;
Safarikova, Marketa;
Kalousova, Marta;
Geboes, Karen;
De Putter, Robin

Publication type:

Article

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50

By:

Drüsedau, Marion;
Dreesen, Jos C;
Derks-Smeets, Inge;
Coonen, Edith;
van Golde, Ron;
van Echten-Arends, Jannie;
Kastrop, Peter M M;
Blok, Marinus J;
Gómez-García, Encarna;
Geraedts, Joep P;
Smeets, Hubert J;
de Die-Smulders, Christine E;
Paulussen, Aimée D

Publication type:

Article

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

Published in:

International Journal of Cancer, 2019, v. 145, n. 2, p. 401, doi. 10.1002/ijc.32114

By:

Brandão, Rita D.;
Mensaert, Klaas;
López‐Perolio, Irene;
Tserpelis, Demis;
Xenakis, Markos;
Lattimore, Vanessa;
Walker, Logan C.;
Kvist, Anders;
Vega, Ana;
Gutiérrez‐Enríquez, Sara;
Díez, Orland;
Hoya, Miguel;
Spurdle, Amanda B.;
De Meyer, Tim;
Blok, Marinus J.

Publication type:

Article

Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.

Published in:

Breast Cancer Research & Treatment, 2019, v. 177, n. 3, p. 723, doi. 10.1007/s10549-019-05345-2

By:

Heemskerk-Gerritsen, Bernadette A. M.;
Jager, Agnes;
Koppert, Linetta B.;
Obdeijn, A. Inge-Marie;
Collée, Margriet;
Meijers-Heijboer, Hanne E. J.;
Jenner, Denise J.;
Oldenburg, Hester S. A.;
van Engelen, Klaartje;
de Vries, Jakob;
van Asperen, Christi J.;
Devilee, Peter;
Blok, Marinus J.;
Kets, C. Marleen;
Ausems, Margreet G. E. M.;
Seynaeve, Caroline;
Rookus, Matti A.;
Hooning, Maartje J.

Publication type:

Article

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03978-6

By:

Hakkaart, Christopher;
Pearson, John F.;
Marquart, Louise;
Dennis, Joe;
Wiggins, George A. R.;
Barnes, Daniel R.;
Robinson, Bridget A.;
Mace, Peter D.;
Aittomäki, Kristiina;
Andrulis, Irene L.;
Arun, Banu K.;
Azzollini, Jacopo;
Balmaña, Judith;
Barkardottir, Rosa B.;
Belhadj, Sami;
Berger, Lieke;
Blok, Marinus J.;
Boonen, Susanne E.;
Borde, Julika;
Bradbury, Angela R.

Publication type:

Article

Genome sequencing as a generic diagnostic strategy for rare disease.

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y

By:

Schobers, Gaby;
Derks, Ronny;
den Ouden, Amber;
Swinkels, Hilde;
van Reeuwijk, Jeroen;
Bosgoed, Ermanno;
Lugtenberg, Dorien;
Sun, Su Ming;
Corominas Galbany, Jordi;
Weiss, Marjan;
Blok, Marinus J.;
Olde Keizer, Richelle A. C. M.;
Hofste, Tom;
Hellebrekers, Debby;
de Leeuw, Nicole;
Stegmann, Alexander;
Kamsteeg, Erik-Jan;
Paulussen, Aimee D. C.;
Ligtenberg, Marjolijn J. L.;
Bradley, Xiangqun Zheng

Publication type:

Article

A randomised controlled phase II trial of preoperative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer.

Published in:

Breast Cancer Research, 2013, v. 15, n. 2, p. 1, doi. 10.1186/bcr3409

By:

Brandão, Rita D.;
Veeck, Jürgen;
Van de Vijver, Koen K.;
Lindsey, Patrick;
De Vries, Bart;
Van Elssen, Catharina H. M. J.;
Blok, Marinus J.;
Keymeulen, Kristien;
Ayoubi, Torik;
Smeets, Hubert J. M.;
Tjan-Heijnen, Vivianne C.;
Hupperets, Pierre S.

Publication type:

Article

A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer.

Published in:

2013

By:

Brandao, Rita D;
Veeck, Jürgen;
Van de Vijver, Koen K;
Lindsey, Patrick;
de Vries, Bart;
van Elssen, Catharina Hmj;
Blok, Marinus J;
Keymeulen, Kristien;
Ayoubi, Torik;
Smeets, Hubert Jm;
Tjan-Heijnen, Vivianne C;
Hupperets, Pierre S;
Brandão, Rita D;
van Elssen, Catharina H M J;
Smeets, Hubert J M

Publication type:

journal article

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Published in:

Familial Cancer, 2023, v. 22, n. 1, p. 103, doi. 10.1007/s10689-022-00306-z

By:

Aukema, Sietse M.;
Glaser, Selina;
van den Hout, Mari F. C. M.;
Dahlum, Sonja;
Blok, Marinus J.;
Hillmer, Morten;
Kolarova, Julia;
Sciot, Raf;
Schott, Dina A.;
Siebert, Reiner;
Stumpel, Constance T. R. M.

Publication type:

Article

Generation and initial characterization of novel tumour organoid models to study human pancreatic cancer‐induced cachexia.

Published in:

Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 6, p. 1509, doi. 10.1002/jcsm.12627

By:

Vaes, Rianne D.W.;
Dijk, David P.J.;
Welbers, Tessa T.J.;
Blok, Marinus J.;
Aberle, Merel R.;
Heij, Lara;
Boj, Sylvia F.;
Olde Damink, Steven W.M.;
Rensen, Sander S.

Publication type:

Article

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 308, doi. 10.3390/ijms18020308

By:

Kamps, Rick;
Brandão, Rita D.;
van den Bosch, Bianca J.;
Paulussen, Aimee D. C.;
Xanthoulea, Sofia;
Blok, Marinus J.;
Romano, Andrea

Publication type:

Article

No evidence to support an association of PER3 clock gene polymorphism with ADHD-related idiopathic chronic sleep onset insomnia.

Published in:

Biological Rhythm Research, 2005, v. 36, n. 5, p. 381, doi. 10.1080/09291010500218449

By:

van der Heijden, Kristiaan B.;
Blok, Marinus J.;
Spee, Kim;
Archer, Simon N.;
Smits, Marcel G.;
Curfs, Leopold M.;
Gunning, W. Boudewijn

Publication type:

Article

STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity.

Published in:

British Journal of Dermatology, 2022, v. 187, n. 5, p. 820, doi. 10.1111/bjd.21775

By:

Nagtzaam, Ivo F.;
van Leersum, Frank S.;
Kouwenberg, Laurie C.M.;
Blok, Marinus J.;
Vreeburg, Maaike;
Steijlen, Peter M.;
Gostyński, Antoni;
van Geel, Michel

Publication type:

Article