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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.
Published in:
Clinical Genetics, 2008, v. 74, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.01086.x
By:
- Gervasini, C.;
- Pfundt, R.;
- Castronovo, P.;
- Russo, S.;
- Roversi, G.;
- Masciadri, M.;
- Milani, D.;
- Zampino, G.;
- Selicorni, A.;
- Schoenmakers, E. F. P. M.;
- Larizza, L.
Publication type:
Article
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Published in:
2016
By:
- Nicholas, A K;
- Serra, E G;
- Cangul, H;
- Alyaarubi, S;
- Ullah, I;
- Schoenmakers, E;
- Deeb, A;
- Habeb, A M;
- AlMaghamsi, M;
- Peters, C;
- Nathwani, N;
- Aycan, Z;
- Saglam, H;
- Bober, E;
- Dattani, M;
- Shenoy, S;
- Murray, P G;
- Babiker, A;
- Willemsen, R;
- Thankamony, A
Publication type:
journal article
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.
Published in:
2016
By:
- 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
Publication type:
journal article
Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.
Published in:
Oncogene, 2006, v. 25, n. 10, p. 1571, doi. 10.1038/sj.onc.1209177
By:
- Roversi, G.;
- Pfundt, R.;
- Moroni, R. F.;
- Magnani, I.;
- van Reijmersdal, S.;
- Pollo, B.;
- Straatman, H.;
- Larizza, L.;
- Schoenmakers, E. F. P. M.
Publication type:
Article
Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 8, p. 561, doi. 10.1038/sj.ejhg.5200497
By:
- Debeer, Ph;
- Schoenmakers, E F P M;
- Thoelen, R;
- Holvoet, M;
- Kuittinen, T;
- Fabry, G;
- Fryns, J-P;
- Goodman, F R;
- Van de Ven, W J M
Publication type:
Article
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3′/4 synpolydactyly.
Published in:
Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 229, doi. 10.1159/000015036
By:
- Debeer, P.;
- Schoenmakers, E. F. P. M.;
- Thoelen, R.;
- Fryns, J. -P.;
- van de Ven, W. J. M.
Publication type:
Article
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.
Published in:
Leukemia (08876924), 2010, v. 24, n. 1, p. 242, doi. 10.1038/leu.2009.210
By:
- Jongmans, M. C. J.;
- Kuiper, R. P.;
- Carmichael, C. L.;
- Wilkins, E. J.;
- Dors, N.;
- Carmagnac, A.;
- Schouten-van Meeteren, A. Y. N.;
- Li, X.;
- Stankovic, M.;
- Kamping, E.;
- 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.
Publication type:
Article
High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.
Published in:
Leukemia (08876924), 2007, v. 21, n. 6, p. 1258, doi. 10.1038/sj.leu.2404691
By:
- 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.
Publication type:
Article
Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.
Published in:
2006
By:
- 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
Publication type:
Letter
Ligand-induced conformational changes in prolyl oligopeptidase: a kinetic approach.
Published in:
PEDS: Protein Engineering, Design & Selection, 2017, v. 30, n. 3, p. 217, doi. 10.1093/protein/gzw079
By:
- Van Elzen, R.;
- Schoenmakers, E.;
- Brandt, I.;
- Van Der Veken, P.;
- Lambeir, A. M.
Publication type:
Article
Molecular cytogenetic assignment of the chromosome 12 breakpoints in many benign tumors to 12q15 Affecting the HMGIC gene.
Published in:
Genes, Chromosomes & Cancer, 1996, v. 15, n. 3, p. 195, doi. 10.1002/1098-2264(199603)15:3<195::AID-GCC2870150303>3.0.CO;2-D
By:
- Wanschura, S.;
- Kazmierczak, B.;
- Bartnitzke, S.;
- Bullerdiek, J.;
- Schloot, W.;
- Schoenmakers, E.;
- Meyen, E.;
- Van Ven, W. De
Publication type:
Article
Regional fine mapping of the multiple-aberration region involved in uterine leiomyoma, lipoma, and pleomorphic adenoma of the salivary gland to 12q15.
Published in:
Genes, Chromosomes & Cancer, 1995, v. 14, n. 1, p. 68, doi. 10.1002/gcc.2870140112
By:
- Wanschura, S.;
- Kazmierczak, B.;
- Schoenmakers, E.;
- Meyen, E.;
- Bartnitzke, S.;
- van de Ven, W.;
- Bullerdiek, J.;
- Schloot, W.
Publication type:
Article
How Central Is Too Central? Organizing Interorganizational Collaboration Networks for Breakthrough Innovation.
Published in:
Journal of Product Innovation Management, 2017, v. 34, n. 4, p. 526, doi. 10.1111/jpim.12384
By:
- Qi Dong, John;
- McCarthy, Killian J.;
- Schoenmakers, Wilfred W. M. E.
Publication type:
Article
The effect of a single rectal dose of cisapride on delayed gastric emptying.
Published in:
Alimentary Pharmacology & Therapeutics, 1997, v. 11, n. 4, p. 781, doi. 10.1046/j.1365-2036.1997.t01-1-00204.x
By:
- BRUMMER, R.-J. M.;
- SCHOENMAKERS, E. A. J. M.;
- KEMERINK†, G. J.;
- HEIDENDAL†, G. A. K.;
- SANDERS‡, D. G. M.;
- STOCKBRÜGGER, R. W.
Publication type:
Article
Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma.
Published in:
Cytogenetics & Cell Genetics, 2001, v. 95, n. 1/2, p. 17, doi. 10.1159/000057011
By:
- Biank, C.;
- Schoenmakers, E. F. P. M.;
- Rogaiia, P.;
- Huys, E. H. L. P. G.;
- van Rijk, A. A. F.;
- Drieschnera, N.;
- Bullerdieka, J.
Publication type:
Article
Perfusion imaging of pancreas allografts using technetium‐99m hexamethyl propylene amine oxime.
Published in:
Transplant International, 1992, v. 5, p. S265, doi. 10.1111/tri.1992.5.s1.265
By:
- Booster, M. H.;
- Schoenmakers, E. A. J. M.;
- Rijnders, A. J. M.;
- Heidendal, G. A. K.;
- van Kroonenburgh, M. J. P. G.;
- van Hooff, J. P.;
- Kootstra, G.;
- Peltenburg, H. G.
Publication type:
Article
Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas.
Published in:
Cytogenetic & Genome Research, 2007, v. 118, n. 2-4, p. 157, doi. 10.1159/000108296
By:
- 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.
Publication type:
Article
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Published in:
Clinical Endocrinology, 2017, v. 86, n. 3, p. 410, doi. 10.1111/cen.13149
By:
- 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.
Publication type:
Article

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