High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression
KUIPER, R. P, SCHOENMAKERS, E. F. P. M, VAN REIJMERSDAL, S. V, HEHIR-KWA, J. Y, VAN KESSEL, A. Geurts, VAN LEEUWEN, F. N, HOOGERBRUGGE, P. M
Published in Leukemia (01.06.2007)
Published in Leukemia (01.06.2007)
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A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism
Koulouri, O, Nicholas, A. K, Schoenmakers, E, Mokrosinski, J, Lane, F, Cole, T, Kirk, J, Farooqi, I. S, Chatterjee, V. K, Gurnell, M, Schoenmakers, N
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
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Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
JONGMANS, Mcj, KUIPER, R. P, BENGTSSON, H, SCHOENMAKERS, E. F. P. M, VAN KESSEL, A. Geurts, HOOGERBRUGGE, P. M, HAHN, C. N, BRONS, P. P, SCOTT, H. S, HOOGERBRUGGE, N, CARMICHAEL, C. L, WILKINS, E. J, DORS, N, CARMAGNAC, A, SCHOUTEN-VAN MEETEREN, A. Y. N, LI, X, STANKOVIC, M, KAMPING, E
Published in Leukemia (01.01.2010)
Published in Leukemia (01.01.2010)
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Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines
ROVERSI, G, PFUNDT, R, MORONI, R. F, MAGNANI, I, VAN REIJMERSDAL, S, POLIO, B, STRAATMAN, H, LARIZZA, L, SCHOENMAKERS, E. F. P. M
Published in Oncogene (09.03.2006)
Published in Oncogene (09.03.2006)
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Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland
Nicholas, A.K., Jaleel, S., Lyons, G., Schoenmakers, E., Dattani, M.T., Crowne, E., Bernhard, B., Kirk, J., Roche, E.F., Chatterjee, V.K., Schoenmakers, N.
Published in Clinical endocrinology (Oxford) (01.03.2017)
Published in Clinical endocrinology (Oxford) (01.03.2017)
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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
Osoegawa, K, Vessere, G M, Utami, K H, Mansilla, M A, Johnson, M K, Riley, B M, L’Heureux, J, Pfundt, R, Staaf, J, van der Vliet, W A, Lidral, A C, Schoenmakers, E F P M, Borg, A, Schutte, B C, Lammer, E J, Murray, J C, de Jong, P J
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Ligand-induced conformational changes in prolyl oligopeptidase: a kinetic approach
Van Elzen, R., Schoenmakers, E., Brandt, I., Van Der Veken, P., Lambeir, A.M.
Published in Protein engineering, design and selection (01.03.2017)
Published in Protein engineering, design and selection (01.03.2017)
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Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion
Poelmans, G., Engelen, J.J.M., Van Lent-Albrechts, J., Smeets, H.J., Schoenmakers, E., Franke, B., Buitelaar, J.K., Wuisman-Frerker, M., Erens, W., Steyaert, J., Schrander-Stumpel, C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.01.2009)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.01.2009)
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Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors
Futter, M, Diekmann, H, Schoenmakers, E, Sadiq, O, Chatterjee, K, Rubinsztein, D C
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
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Selective DNA binding by the androgen receptor as a mechanism for hormone-specific gene regulation
Claessens, F., Verrijdt, G., Schoenmakers, E., Haelens, A., Peeters, B., Verhoeven, G., Rombauts, W.
Published in Journal of steroid biochemistry and molecular biology (01.01.2001)
Published in Journal of steroid biochemistry and molecular biology (01.01.2001)
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Conference Proceeding
Constitutional DNA copy number changes in ICSI children
Woldringh, G.H., Janssen, I.M., Hehir-Kwa, J.Y., van den Elzen, C., Kremer, J.A.M., de Boer, P., Schoenmakers, E.F.P.M.
Published in Human reproduction (Oxford) (01.01.2009)
Published in Human reproduction (Oxford) (01.01.2009)
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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
Gervasini, C, Pfundt, R, Castronovo, P, Russo, S, Roversi, G, Masciadri, M, Milani, D, Zampino, G, Selicorni, A, Schoenmakers, EFPM, Larizza, L
Published in Clinical genetics (01.12.2008)
Published in Clinical genetics (01.12.2008)
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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
Veltman, J A, Yntema, H G, Lugtenberg, D, Arts, H, Briault, S, Huys, E H L P G, Osoegawa, K, de Jong, P, Brunner, H G, Geurts van Kessel, A, van Bokhoven, H, Schoenmakers, E F P M
Published in Journal of medical genetics (01.06.2004)
Published in Journal of medical genetics (01.06.2004)
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Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML
Stevens-Kroef, M-J P L, Schoenmakers, E F P M, van Kraaij, M, Huys, E, Vermeulen, S, van der Reijden, B, van Kessel, A Geurts
Published in Leukemia (01.06.2006)
Published in Leukemia (01.06.2006)
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Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas
Medendorp, K., van Groningen, J.J.M., Schepens, M., Vreede, L., Thijssen, J., Schoenmakers, E.F.P.M., van den Hurk, W.H., Geurts van Kessel, A., Kuiper, R.P.
Published in Cytogenetic and genome research (01.01.2007)
Published in Cytogenetic and genome research (01.01.2007)
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