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High Frequency of TP53 Mutations in Juvenile Pilocytic Astrocytomas Indicates Role of TP53 in the Development of These Tumors.
Published in:
Brain Pathology, 1999, v. 9, n. 3, p. 463, doi. 10.1111/j.1750-3639.1999.tb00535.x
By:
- Hayes, Vanessa M.;
- Dirven, Clemens M.F.;
- Dam, Anke;
- Verlind, Edwin;
- Molenaar, Willemina M.;
- Mooij, Jan Jakob A.;
- Hofstra, Robert M.W.;
- Buys, Charles H.C.M.
Publication type:
Article
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
Published in:
European Journal of Heart Failure, 2012, v. 14, n. 11, p. 1199, doi. 10.1093/eurjhf/hfs119
By:
- van der Zwaag, Paul A.;
- van Rijsingen, Ingrid A.W.;
- Asimaki, Angeliki;
- Jongbloed, Jan D.H.;
- van Veldhuisen, Dirk J.;
- Wiesfeld, Ans C.P.;
- Cox, Moniek G.P.J.;
- van Lochem, Laura T.;
- de Boer, Rudolf A.;
- Hofstra, Robert M.W.;
- Christiaans, Imke;
- van Spaendonck-Zwarts, Karin Y.;
- Lekanne dit Deprez, Ronald H.;
- Judge, Daniel P.;
- Calkins, Hugh;
- Suurmeijer, Albert J.H.;
- Hauer, Richard N.W.;
- Saffitz, Jeffrey E.;
- Wilde, Arthur A.M.;
- van den Berg, Maarten P.
Publication type:
Article
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and...
Published in:
Nature, 1994, v. 367, n. 6461, p. 375, doi. 10.1038/367375a0
By:
- Hofstra, Robert M.W.;
- Landsvater, Rudy M.
Publication type:
Article
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 18, p. 3642, doi. 10.1093/hmg/ddq280
By:
- Alves, Maria M.;
- Burzynski, Grzegorz;
- Delalande, Jean-Marie;
- Osinga, Jan;
- van der Goot, Annemieke;
- Dolga, Amalia M.;
- de Graaff, Esther;
- Brooks, Alice S.;
- Metzger, Marco;
- Eisel, Ulrich L.M.;
- Shepherd, Iain;
- Eggen, Bart J.L.;
- Hofstra, Robert M.W.
Publication type:
Article
A role for MLH3 in hereditary nonpolyposis colorectal cancer.
Published in:
Nature Genetics, 2001, v. 29, n. 2, p. 137, doi. 10.1038/ng1001-137
By:
- Wu, Ying;
- Berends, Maran J.W.;
- Sijmons, Rolf H.;
- Mensink, Rob G.J.;
- Verlind, Edwin;
- Kooi, Krista A.;
- van der Sluis, Tineke;
- Kempinga, Claudia;
- van der Zee, Ate G.J.;
- Hollema, Harry;
- Buys, Charles H.C.M.;
- Kleibeuker, Jan H.;
- Hofstra, Robert M.W.
Publication type:
Article
New comprehensive denaturing-gradient-gel- electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours.
Published in:
Genes, Chromosomes & Cancer, 2000, v. 29, n. 4, p. 309, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1037>3.0.CO;2-F
By:
- Hayes, Vanessa M.;
- Westra, Jantine L.;
- Verlind, Edwin;
- Bleeker, Wim;
- Plukker, John T.;
- Hofstra, Robert M.W.;
- Buys, Charles H.C.M.
Publication type:
Article
High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors.
Published in:
Human Mutation, 2014, v. 35, n. 12, p. 1442, doi. 10.1002/humu.22686
By:
- Ferreira, Ana M.;
- Tuominen, Iina;
- Dijk‐Bos, Krista;
- Sanjabi, Bahram;
- Sluis, Tineke;
- Zee, Ate G.;
- Hollema, Harry;
- Zazula, Monika;
- Sijmons, Rolf H.;
- Aaltonen, Lauri A.;
- Westers, Helga;
- Hofstra, Robert M.W.
Publication type:
Article
Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 923, doi. 10.1002/humu.22310
By:
- Rasmussen, Lene Juel;
- Heinen, Christopher D.;
- Royer‐Pokora, Brigitte;
- Drost, Mark;
- Tavtigian, Sean;
- Hofstra, Robert M.W.;
- Wind, Niels
Publication type:
Article
Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.
Published in:
Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214
By:
- Thompson, Bryony A.;
- Greenblatt, Marc S.;
- Vallee, Maxime P.;
- Herkert, Johanna C.;
- Tessereau, Chloe;
- Young, Erin L.;
- Adzhubey, Ivan A.;
- Li, Biao;
- Bell, Russell;
- Feng, Bingjian;
- Mooney, Sean D.;
- Radivojac, Predrag;
- Sunyaev, Shamil R.;
- Frebourg, Thierry;
- Hofstra, Robert M.W.;
- Sijmons, Rolf H.;
- Boucher, Ken;
- Thomas, Alun;
- Goldgar, David E.;
- Spurdle, Amanda B.
Publication type:
Article
Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future.
Published in:
Human Mutation, 2012, v. 33, n. 12, p. 1617, doi. 10.1002/humu.22168
By:
- Rasmussen, Lene Juel;
- Heinen, Christopher D.;
- Royer-Pokora, Brigitte;
- Drost, Mark;
- Tavtigian, Sean;
- Hofstra, Robert M.W.;
- de Wind, Niels
Publication type:
Article
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
By:
- Bergman, Jorieke E.H.;
- Janssen, Nicole;
- van der Sloot, Almer M.;
- de Walle, Hermien E.K.;
- Schoots, Jeroen;
- Rendtorff, Nanna D.;
- Tranebjærg, Lisbeth;
- Hoefsloot, Lies H.;
- van Ravenswaaij-Arts, Conny M.A.;
- Hofstra, Robert M.W.
Publication type:
Article
Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.
Published in:
Human Mutation, 2012, v. 33, n. 7, p. 1059, doi. 10.1002/humu.22090
By:
- Duns, Gerben;
- Hofstra, Robert M.W.;
- Sietzema, Jantine G.;
- Hollema, Harry;
- van Duivenbode, Inge;
- Kuik, Angela;
- Giezen, Cor;
- Jan, Osinga;
- Bergsma, Jelkje J.;
- Bijnen, Harrie;
- van der Vlies, Pieter;
- van den Berg, Eva;
- Kok, Klaas
Publication type:
Article
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Published in:
Human Mutation, 2012, v. 33, n. 3, p. 488, doi. 10.1002/humu.22000
By:
- Drost, Mark;
- Zonneveld, José B.M.;
- van Hees, Sandrine;
- Rasmussen, Lene Juel;
- Hofstra, Robert M.W.;
- de Wind, Niels
Publication type:
Article
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
Published in:
Human Mutation, 2011, v. 32, n. 10, p. 1100, doi. 10.1002/humu.21551
By:
- van den Akker, Peter C.;
- Jonkman, Marcel F.;
- Rengaw, Trebor;
- Bruckner-Tuderman, Leena;
- Has, Cristina;
- Bauer, Johann W.;
- Klausegger, Alfred;
- Zambruno, Giovanna;
- Castiglia, Daniele;
- Mellerio, Jemima E.;
- McGrath, John A.;
- van Essen, Anthonie J.;
- Hofstra, Robert M.W.;
- Swertz, Morris A.
Publication type:
Article
Cell-free assay breakthrough for MLH1 variants.
Published in:
Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21217
By:
- Hofstra, Robert M.W.;
- Sijmons, Rolf H.
Publication type:
Article
An updated and upgraded L1CAM mutation database.
Published in:
2010
By:
- Vos, Yvonne J.;
- Hofstra, Robert M.W.
Publication type:
Other
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Published in:
2009
By:
- van der Zwaag, Paul A.;
- Jongbloed, Jan D.H.;
- van den Berg, Maarten P.;
- van der Smagt, Jasper J.;
- Jongbloed, Roselie;
- Bikker, Hennie;
- Hofstra, Robert M.W.;
- van Tintelen, J. Peter
Publication type:
Other
Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. 1292, doi. 10.1002/humu.20894
By:
- Hofstra, Robert M.W.;
- Spurdle, Amanda B.;
- Eccles, Diana;
- Foulkes, William D.;
- de Wind, Niels;
- Hoogerbrugge, Nicoline;
- Hogervorst, Frans B.L.
Publication type:
Article
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. 1273, doi. 10.1002/humu.20889
By:
- Greenblatt, Marc S.;
- Brody, Lawrence C.;
- Foulkes, William D.;
- Genuardi, Maurizio;
- Hofstra, Robert M.W.;
- Olivier, Magali;
- Plon, Sharon E.;
- Sijmons, Rolf H.;
- Sinilnikova, Olga;
- Spurdle, Amanda B.
Publication type:
Article
A database to support the interpretation of human mismatch repair gene variants.
Published in:
2008
By:
- Ou, Jianghua;
- Niessen, Renée C.;
- Vonk, Jan;
- Westers, Helga;
- Hofstra, Robert M.W.;
- Sijmons, Rolf H.
Publication type:
Other
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1047, doi. 10.1002/humu.20580
By:
- Ou, Jianghua;
- Niessen, Renée C.;
- Lützen, Anne;
- Sijmons, Rolf H.;
- Kleibeuker, Jan. H.;
- de Wind, Niels;
- Rasmussen, Lene Juel;
- Hofstra, Robert M.W.
Publication type:
Article
Getting rid of the PMS2 pseudogenes: mission impossible?
Published in:
Human Mutation, 2007, v. 28, n. 4, p. 414, doi. 10.1002/humu.20447
By:
- Niessen, Renée C.;
- Kleibeuker, Jan H.;
- Jager, Paul O.J.;
- Sijmons, Rolf H.;
- Hofstra, Robert M.W.
Publication type:
Article
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).
Published in:
Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283
By:
- Robert M.W. Hofstra;
- Inge M. Mulder;
- Rolf Vossen;
- Pia A. M. de Koning-Gans;
- Marian Kraak;
- Ieke B. Ginjaar;
- Annemarie H. van der Hout;
- Egbert Bakker;
- Charles H.C.M. Buys;
- Gert-Jan B. van Ommen;
- Anthonie J. van Essen;
- Johan T. den Dunnen
Publication type:
Article
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
Published in:
Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061
By:
- van der Hout, Annemarie H.;
- Verlind, Edwin;
- Beemer, Frits A.;
- Buys, Charles H.C.M.;
- Hofstra, Robert M.W.;
- Scheffer, Hans
Publication type:
Article
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer.
Published in:
Human Mutation, 2000, v. 16, n. 6, p. 491, doi. 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J
By:
- Shiri-Sverdlov, Ronit;
- Oefner, Peter;
- Green, Limor;
- Baruch, Ruth Gershoni;
- Wagner, Teresa;
- Kruglikova, Anna;
- Haitchick, Samario;
- Hofstra, Robert M.W.;
- Papa, Moshe Z.;
- Mulder, Inge;
- Rizel, Shulamit;
- Bar Sade, Revital Bruchim;
- Dagan, Efrat;
- Abdeen, Ziad;
- Goldman, Boleslaw;
- Friedman, Eitan
Publication type:
Article
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 418, doi. 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2
By:
- Hofstra, Robert M.W.;
- Wu, Ying;
- Stulp, Rein P.;
- Elfferich, Peter;
- Osinga, Jan;
- Maas, Saskia M.;
- Siderius, Liesbeth;
- Brooks, Alice S.;
- vd Ende, Jenneke J.;
- Heydendael, Vera M.R.;
- Severijnen, René S.V.M.;
- Bax, Klaas M.A.;
- Meijers, Carel;
- Buys, Charles H.C.M.
Publication type:
Article
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
Published in:
Human Mutation, 1996, v. 8, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1996)8:2<160::AID-HUMU8>3.0.CO;2-F
By:
- Wu, Ying;
- Hofstra, Robert M.W.;
- Scheffer, Hans;
- Uitterlinden, André G.;
- Mullaart, Erik;
- Buys, Charles H.C.M.;
- Vijg, Jan
Publication type:
Article
MLH1 and MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer.
Published in:
International Journal of Cancer, 2001, v. 92, n. 3, p. 398, doi. 10.1002/ijc.1206
By:
- Berends, Maran J.W.;
- Hollema, Harry;
- Wu, Ying;
- van der Sluis, Tineke;
- Mensink, Rob G.J.;
- ten Hoor, Klaske A.;
- Sijmons, Rolf H.;
- de Vries, Elisabeth G.E.;
- Pras, Elisabeth;
- Mourits, Marian J.E.;
- Hofstra, Robert M.W.;
- Buys, Charles H.C.M.;
- Kleibeuker, Jan H.;
- van der Zee, Ate G.J.
Publication type:
Article
Novel no-stop FLNA mutation causes multi-organ involvement in males.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
By:
- Oegema, RENske;
- Hulst, Jessie M.;
- Theuns ‐ Valks, Sabine D.M.;
- van UnEN, Leontine M.A.;
- Schot, Rachel;
- Mancini, Grazia M.S.;
- Schipper, Marguerite E.I.;
- de Wit, Marie C.Y.;
- Sibbles, Barbara J.;
- de Coo, IrENaeus F.M.;
- Nanninga, Veerle;
- Hofstra, Robert M.W.;
- Halley, Dicky J.J.;
- Brooks, Alice S.
Publication type:
Article
Brush border myosin Ia inactivation in gastric but not endometrial tumors.
Published in:
International Journal of Cancer, 2013, v. 132, n. 8, p. 1790, doi. 10.1002/ijc.27856
By:
- Mazzolini, Rocco;
- Rodrigues, Paulo;
- Bazzocco, Sarah;
- Dopeso, Higinio;
- Ferreira, Ana M.;
- Mateo‐Lozano, Silvia;
- Andretta, Elena;
- Woerner, Stefan M.;
- Alazzouzi, Hafid;
- Landolfi, Stefania;
- Hernandez‐Losa, Javier;
- Macaya, Irati;
- Suzuki, Hiromu;
- Ramón y Cajal, Santiago;
- Mooseker, Mark S.;
- Mariadason, John M.;
- Gebert, Johannes;
- Hofstra, Robert M.W.;
- Reventós, Jaume;
- Yamamoto, Hiroyuki
Publication type:
Article

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