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Clinical outcome of patients with previously untreated soft tissue sarcomas in relation to tumor grade, DNA ploidy and karyotype.
Published in:
International Journal of Cancer, 1997, v. 74, n. 4, p. 396, doi. 10.1002/(SICI)1097-0215(19970822)74:4<396::AID-IJC6>3.0.CO;2-Q
By:
- Plaat, Boudewijn E.C.;
- Muntinghe, Friso L.H.;
- Molenaar, Willemina M.;
- Hoekstra, Harald J.;
- Bosveld, Henk E.P.;
- Dam, Anke;
- Dijkhuizen, Trijnie;
- van den Berg, Eva
Publication type:
Article
Genetics as a diagnostic tool in sarcomatoid renal-cell cancer.
Published in:
International Journal of Cancer, 1997, v. 72, n. 2, p. 265, doi. 10.1002/(SICI)1097-0215(19970717)72:2<265::AID-IJC11>3.0.CO;2-F
By:
- Dijkhuizen, Trijnie;
- Van Den Berg, Eva;
- Van Den Berg, Anke;
- Van De Veen, Anneke;
- Dam, Anke;
- Faber, Hendrika;
- Buys, Charles H.C.M.;
- Störkel, Stephan;
- De Jong, Bauke
Publication type:
Article
Chromosomal findings and p53-mutation analysis in chromophilic renal-cell carcinomas.
Published in:
International Journal of Cancer, 1996, v. 68, n. 1, p. 47, doi. 10.1002/(SICI)1097-0215(19960927)68:1<47::AID-IJC9>3.0.CO;2-X
By:
- Dijkhuizen, Trijnie;
- Van den Berg, Eva;
- Van den Berg, Anke;
- Störkel, Stephan;
- De Jong, Bauke;
- Seitz, Gerhard;
- Henn, Wolfram
Publication type:
Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
By:
- Béna, Frédérique;
- Bruno, Damien L.;
- Eriksson, Mats;
- van Ravenswaaij‐Arts, Conny;
- Stark, Zornitza;
- Dijkhuizen, Trijnie;
- Gerkes, Erica;
- Gimelli, Stefania;
- Ganesamoorthy, Devika;
- Thuresson, Ann Charlotte;
- Labalme, Audrey;
- Till, Marianne;
- Bilan, Frédéric;
- Pasquier, Laurent;
- Kitzis, Alain;
- Dubourgm, Christele;
- Rossi, Massimiliano;
- Bottani, Armand;
- Gagnebin, Maryline;
- Sanlaville, Damien
Publication type:
Article
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 896, doi. 10.1002/ajmg.a.63086
By:
- Breet, Hanna;
- Vos, Yvonne J.;
- Dijkhuizen, Trijnie;
- Voorbij‐Vierstra, Carlijn L.;
- Bolling, Maria C.;
- van den Akker, Peter C.
Publication type:
Article
Central 22q11.2 deletions.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
By:
- Rump, Patrick;
- de Leeuw, Nicole;
- van Essen, Anthonie J.;
- Verschuuren‐Bemelmans, Corien C.;
- Veenstra‐Knol, Hermine E.;
- Swinkels, Mariëlle E.M.;
- Oostdijk, Wilma;
- Ruivenkamp, Claudia;
- Reardon, Willie;
- de Munnik, Sonja;
- Ruiter, Mariken;
- Frumkin, Ayala;
- Lev, Dorit;
- Evers, Christina;
- Sikkema‐Raddatz, Birgit;
- Dijkhuizen, Trijnie;
- van Ravenswaaij‐Arts, Conny M.
Publication type:
Article
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2739, doi. 10.1002/ajmg.a.34274
By:
- Stevens, Servi J.C.;
- van Ravenswaaij-Arts, Conny M.A.;
- Janssen, Jannie W.H.;
- Klein Wassink-Ruiter, Jolien S.;
- van Essen, Anthonie J.;
- Dijkhuizen, Trijnie;
- van Rheenen, Jeroen;
- Heuts-Vijgen, Regina;
- Stegmann, Alexander P.A.;
- Smeets, Eric E.J.G.L.;
- Engelen, John J.M.
Publication type:
Article
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 161, doi. 10.1038/ejhg.2011.174
By:
- Hanemaaijer, Nicolien M;
- Sikkema-Raddatz, Birgit;
- van der Vries, Gerben;
- Dijkhuizen, Trijnie;
- Hordijk, Roel;
- van Essen, Anthonie J;
- Veenstra-Knol, Hermine E;
- Kerstjens-Frederikse, Wilhelmina S;
- Herkert, Johanna C;
- Gerkes, Erica H;
- Leegte, Lamberta K;
- Kok, Klaas;
- Sinke, Richard J;
- van Ravenswaaij-Arts, Conny M A
Publication type:
Article
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1152, doi. 10.1038/ejhg.2011.120
By:
- Feenstra, Ilse;
- Hanemaaijer, Nicolien;
- Sikkema-Raddatz, Birgit;
- Yntema, Helger;
- Dijkhuizen, Trijnie;
- Lugtenberg, Dorien;
- Verheij, Joke;
- Green, Andrew;
- Hordijk, Roel;
- Reardon, William;
- Vries, Bert de;
- Brunner, Han;
- Bongers, Ernie;
- Leeuw, Nicole de;
- van Ravenswaaij-Arts, Conny
Publication type:
Article
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
By:
- van Silfhout, Anneke T.;
- van den Akker, Peter C.;
- Dijkhuizen, Trijnie;
- Verheij, Joke B. G. M.;
- Olderode-Berends, Maran J. W.;
- Kok, Klaas;
- Sikkema-Raddatz, Birgit;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02658-w
By:
- Engwerda, Aafke;
- Kerstjens-Frederikse, Wilhelmina S.;
- Corsten-Janssen, Nicole;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02670-0
By:
- Rraku, Eleana;
- Kerstjens-Frederikse, Wilhelmina S.;
- Swertz, Morris A.;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.;
- Engwerda, Aafke
Publication type:
Article
Copy number variation in a hospital-based cohort of children with epilepsy.
Published in:
Epilepsia Open, 2017, v. 2, n. 2, p. 244, doi. 10.1002/epi4.12057
By:
- Vlaskamp, Danique R. M.;
- Callenbach, Petra M. C.;
- Rump, Patrick;
- Giannini, Lucia A. A.;
- Dijkhuizen, Trijnie;
- Brouwer, Oebele F.;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling.
Published in:
Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 3, doi. 10.1186/1755-8166-7-3
By:
- Stevens-Kroef, Marian J. P. L.;
- Van den Berg, Eva;
- Weghuis, Daniel Olde;
- Van Kessel, Ad Geurts;
- Pfundt, Rolph;
- Linssen-Wiersma, Matty;
- Benjamins, Marloes;
- Dijkhuizen, Trijnie;
- Groenen, Patricia J. T.A.;
- Simons, Annet
Publication type:
Article
Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0612-6
By:
- El Mecky, Julia;
- Johansson, Lennart;
- Plantinga, Mirjam;
- Fenwick, Angela;
- Lucassen, Anneke;
- Dijkhuizen, Trijnie;
- van der Hout, Annemieke;
- Lyle, Kate;
- van Langen, Irene
Publication type:
Article
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Published in:
Genes, Chromosomes & Cancer, 2009, v. 48, n. 8, p. 737, doi. 10.1002/gcc.20678
By:
- Niessen, Renée C.;
- Hofstra, Robert M. W.;
- Westers, Helga;
- Ligtenberg, Marjolijn J. L.;
- Kooi, Krista;
- Jager, Paul O. J.;
- de Groote, Marloes L.;
- Dijkhuizen, Trijnie;
- Olderode-Berends, Maran J. W.;
- Hollema, Harry;
- Kleibeuker, Jan H.;
- Sijmons, Rolf H.
Publication type:
Article
A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.
Published in:
Genes, Chromosomes & Cancer, 2005, v. 43, n. 2, p. 194, doi. 10.1002/gcc.20148
By:
- Jantine L. Westra;
- Ludolf G. Boven;
- Pieter van der Vlies;
- Hendrika Faber;
- Birgit Sikkema;
- Michael Schaapveld;
- Trijnie Dijkhuizen;
- Harry Hollema;
- Charles H. C. M. Buys;
- John T. M. Plukker;
- Klaas Kok;
- Robert M. W. Hofstra
Publication type:
Article
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development.
Published in:
Genes, Chromosomes & Cancer, 1997, v. 19, n. 4, p. 228, doi. 10.1002/(SICI)1098-2264(199708)19:4<228::AID-GCC4>3.0.CO;2-Z
By:
- van den Berg, Anke;
- Dijkhuizen, Trijnie;
- Draaijers, Tineke G.;
- Hulsbeek, Miriam M. F.;
- Maher, Eamonn R.;
- van den Berg, Eva;
- Störkel, Stephan;
- Buys, Charles H. C. M.
Publication type:
Article
Tumor progression in a giant cell type malignant fibrous histiocytoma of bone: Clinical, radiologic, histologic, and cytogenetic evidence.
Published in:
Genes, Chromosomes & Cancer, 1994, v. 10, n. 1, p. 66, doi. 10.1002/gcc.2870100111
By:
- Molenaar, Willemina M.;
- Berg, Eva Van Den;
- Veth, Rene P. H.;
- Dijkhuizen, Trijnie;
- De Vries, Elisabeth G. E.
Publication type:
Article
Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridization.
Published in:
British Journal of Haematology, 2004, v. 126, n. 4, p. 495, doi. 10.1111/j.1365-2141.2004.05082.x
By:
- Tchinda, Joelle;
- Dijkhuizen, Trijnie;
- Van Der Vlies, Pieter;
- Kok, Klaas;
- Horst, Jurgen
Publication type:
Article
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 315, doi. 10.1007/s10048-011-0297-2
By:
- Daalen, Emma;
- Kemner, Chantal;
- Verbeek, Nienke;
- Zwaag, Bert;
- Dijkhuizen, Trijnie;
- Rump, Patrick;
- Houben, Renske;
- Slot, Ruben;
- Jonge, Maretha;
- Staal, Wouter;
- Beemer, Frits;
- Vorstman, Jacob;
- Burbach, J.;
- Amstel, Hans;
- Hochstenbach, Ron;
- Brilstra, Eva;
- Poot, Martin
Publication type:
Article

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