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Items: 1 to 50 of 81

1.

Initial clinical sensitivity and acquired resistance to MET inhibition in MET-mutated papillary renal cell carcinoma.

Diamond JR, Salgia R, Varella-Garcia M, Kanteti R, LoRusso PM, Clark JW, Xu LG, Wilner K, Eckhardt SG, Ching KA, Lira ME, Schoenmakers EF, Christensen JG, Camidge DR.

J Clin Oncol. 2013 Jun 1;31(16):e254-8. doi: 10.1200/JCO.2012.46.4289. Epub 2013 Apr 22. No abstract available.

2.

Multiplexed gene expression and fusion transcript analysis to detect ALK fusions in lung cancer.

Lira ME, Kim TM, Huang D, Deng S, Koh Y, Jang B, Go H, Lee SH, Chung DH, Kim WH, Schoenmakers EF, Choi YL, Park K, Ahn JS, Sun JM, Ahn MJ, Kim DW, Mao M.

J Mol Diagn. 2013 Jan;15(1):51-61. doi: 10.1016/j.jmoldx.2012.08.006. Epub 2012 Dec 12.

PMID:
23246132
3.

Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma.

Schoenmakers EF, Bunt J, Hermers L, Schepens M, Merkx G, Janssen B, Kersten M, Huys E, Pauwels P, Debiec-Rychter M, van Kessel AG.

Genes Chromosomes Cancer. 2013 Jan;52(1):11-23. doi: 10.1002/gcc.22001. Epub 2012 Sep 10.

PMID:
22965931
4.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Mukhopadhyay A, Kramer JM, Merkx G, Lugtenberg D, Smeets DF, Oortveld MA, Blokland EA, Agrawal J, Schenck A, van Bokhoven H, Huys E, Schoenmakers EF, van Kessel AG, van Nouhuys CE, Cremers FP.

Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22.

5.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L.

Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Erratum in: Am J Hum Genet. 2010 Sep 10;87(3):445.

6.

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.

Kuiper RP, Vreede L, Venkatachalam R, Ricketts C, Kamping E, Verwiel E, Govaerts L, Debiec-Rychter M, Lerut E, van Erp F, Hoogerbrugge N, van Kempen L, Schoenmakers EF, Bonne A, Maher ER, Geurts van Kessel A.

Cancer Genet Cytogenet. 2009 Dec;195(2):105-11. doi: 10.1016/j.cancergencyto.2009.07.001.

PMID:
19963109
7.

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N.

Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. No abstract available.

PMID:
19946261
8.

Characterization of a recurrent t(1;2)(p36;p24) in human uterine leiomyoma.

van Rijk A, Sweers M, Huys E, Kersten M, Merkx G, van Kessel AG, Debiec-Rychter M, Schoenmakers EF.

Cancer Genet Cytogenet. 2009 Aug;193(1):54-62. doi: 10.1016/j.cancergencyto.2009.03.011.

PMID:
19602464
9.

Constitutional DNA copy number changes in ICSI children.

Woldringh GH, Janssen IM, Hehir-Kwa JY, van den Elzen C, Kremer JA, de Boer P, Schoenmakers EF.

Hum Reprod. 2009 Jan;24(1):233-40. doi: 10.1093/humrep/den323. Epub 2008 Oct 21.

PMID:
18940897
10.

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 EF, Larizza L.

Clin Genet. 2008 Dec;74(6):531-8. doi: 10.1111/j.1399-0004.2008.01086.x. Epub 2008 Sep 16.

PMID:
18798846
11.

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

Schraders M, Jares P, Bea S, Schoenmakers EF, van Krieken JH, Campo E, Groenen PJ.

Br J Haematol. 2008 Oct;143(2):210-21. doi: 10.1111/j.1365-2141.2008.07334.x. Epub 2008 Aug 10.

PMID:
18699851
12.

Molecular mechanisms underlying the MiT translocation subgroup of renal cell carcinomas.

Medendorp K, van Groningen JJ, Schepens M, Vreede L, Thijssen J, Schoenmakers EF, van den Hurk WH, Geurts van Kessel A, Kuiper RP.

Cytogenet Genome Res. 2007;118(2-4):157-65. Review.

PMID:
18000366
13.

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.

Bonne A, Vreede L, Kuiper RP, Bodmer D, Jansen C, Eleveld M, van Erp F, Arkesteijn G, Hoogerbrugge N, van Ravenswaaij C, Schoenmakers EF, Geurts van Kessel A.

Cancer Genet Cytogenet. 2007 Nov;179(1):11-8.

PMID:
17981209
14.

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.

J Med Genet. 2008 Feb;45(2):81-6. Epub 2007 Sep 14.

15.

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.

Kuiper RP, Schoenmakers EF, van Reijmersdal SV, Hehir-Kwa JY, van Kessel AG, van Leeuwen FN, Hoogerbrugge PM.

Leukemia. 2007 Jun;21(6):1258-66. Epub 2007 Apr 19.

PMID:
17443227
16.

Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.

Modena P, Lualdi E, Facchinetti F, Veltman J, Reid JF, Minardi S, Janssen I, Giangaspero F, Forni M, Finocchiaro G, Genitori L, Giordano F, Riccardi R, Schoenmakers EF, Massimino M, Sozzi G.

J Clin Oncol. 2006 Nov 20;24(33):5223-33.

PMID:
17114655
17.

XX male with sex reversal and a de novo 11;22 translocation.

Macville MV, Loneus WH, Marcus-Soekarman D, Huys EH, Schoenmakers EF, Schrank-Hacker A, Emanuel BS, Engelen JJ.

Am J Med Genet A. 2006 Sep 15;140(18):1973-7. No abstract available.

18.

Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.

Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M, Huys E, Vermeulen S, van der Reijden B, van Kessel AG.

Leukemia. 2006 Jun;20(6):1187-9. No abstract available.

PMID:
16598304
19.

No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.

Kiemeney LA, Kuiper RP, Pfundt R, van Reijmersdal S, Schoenberg MP, Aben KK, Niermeijer MF, Witjes JA, Schoenmakers EF.

Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):180-3. No abstract available.

20.

Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines.

Roversi G, Pfundt R, Moroni RF, Magnani I, van Reijmersdal S, Pollo B, Straatman H, Larizza L, Schoenmakers EF.

Oncogene. 2006 Mar 9;25(10):1571-83.

21.

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA.

Am J Hum Genet. 2005 Oct;77(4):606-16. Epub 2005 Aug 30.

22.

Identification of oligodendroglioma specific chromosomal copy number changes in the glioblastoma MI-4 cell line by array-CGH and FISH analyses.

Magnani I, Moroni RF, Roversi G, Beghini A, Pfundt R, Schoenmakers EF, Larizza L.

Cancer Genet Cytogenet. 2005 Sep;161(2):140-5. Erratum in: Cancer Genet Cytogenet. 2005 Nov;163(1):99. Ramona, Ramona Frida [corrected to Moroni, Ramona Frida].

PMID:
16102584
23.

Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).

Veltman IM, Vreede LA, Cheng J, Looijenga LH, Janssen B, Schoenmakers EF, Yeh ET, van Kessel AG.

Hum Mol Genet. 2005 Jul 15;14(14):1955-63. Epub 2005 May 25.

PMID:
15917269
24.

Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications.

Heidenblad M, Lindgren D, Veltman JA, Jonson T, Mahlamäki EH, Gorunova L, van Kessel AG, Schoenmakers EF, Höglund M.

Oncogene. 2005 Mar 3;24(10):1794-801.

PMID:
15688027
25.

Chromosome 3 translocations and familial renal cell cancer.

Bonné AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG.

Curr Mol Med. 2004 Dec;4(8):849-54. Review.

PMID:
15579032
26.

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.

Schraders M, Pfundt R, Straatman HM, Janssen IM, van Kessel AG, Schoenmakers EF, van Krieken JH, Groenen PJ.

Blood. 2005 Feb 15;105(4):1686-93. Epub 2004 Oct 21.

PMID:
15498857
27.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.

Nat Genet. 2004 Sep;36(9):955-7. Epub 2004 Aug 8.

PMID:
15300250
28.

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF.

J Med Genet. 2004 Jun;41(6):425-32. No abstract available.

29.

Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines.

Heidenblad M, Schoenmakers EF, Jonson T, Gorunova L, Veltman JA, van Kessel AG, Höglund M.

Cancer Res. 2004 May 1;64(9):3052-9.

30.

Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains.

Kuiper RP, Schepens M, Thijssen J, Schoenmakers EF, van Kessel AG.

Nucleic Acids Res. 2004 Apr 26;32(8):2315-22. Print 2004.

31.

Heterogeneity of structural abnormalities in the 7q31.3 approximately q34 region in myeloid malignancies.

González MB, Gutiérrez NC, García JL, Schoenmakers EF, Solé F, Calasanz MJ, San Miguel JF, Hernández JM.

Cancer Genet Cytogenet. 2004 Apr 15;150(2):136-43.

PMID:
15066321
32.

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.

Veltman IM, Veltman JA, Arkesteijn G, Janssen IM, Vissers LE, de Jong PJ, van Kessel AG, Schoenmakers EF.

Biotechniques. 2003 Nov;35(5):1066-70.

33.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA.

Am J Hum Genet. 2003 Dec;73(6):1261-70. Epub 2003 Nov 18.

34.

12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.

Zafarana G, Grygalewicz B, Gillis AJ, Vissers LE, van de Vliet W, van Gurp RJ, Stoop H, Debiec-Rychter M, Oosterhuis JW, van Kessel AG, Schoenmakers EF, Looijenga LH, Veltman JA.

Oncogene. 2003 Oct 23;22(48):7695-701.

PMID:
14576833
35.

Endometrial stromal sarcoma presenting as postpartum haemorrhage: report of a case with a sole t(10;17)(q22;p13) translocation.

Leunen K, Amant F, Debiec-Rychter M, Croes R, Hagemeijer A, Schoenmakers EF, Vergote I.

Gynecol Oncol. 2003 Oct;91(1):265-71.

PMID:
14529693
36.

Does conventional cytogenetics detect the real frequency of 19q13 aberrations in benign thyroid lesions? A survey of 38 cases.

Meiboom M, Belge G, Bol S, El-Aouni C, Schoenmakers EF, Bullerdiek J.

Cancer Genet Cytogenet. 2003 Oct 1;146(1):70-2.

PMID:
14499699
37.

Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).

Bodmer D, Schepens M, Eleveld MJ, Schoenmakers EF, Geurts van Kessel A.

Genes Chromosomes Cancer. 2003 Oct;38(2):107-16.

PMID:
12939738
38.

Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.

Kuiper RP, Schepens M, Thijssen J, van Asseldonk M, van den Berg E, Bridge J, Schuuring E, Schoenmakers EF, van Kessel AG.

Hum Mol Genet. 2003 Jul 15;12(14):1661-9.

PMID:
12837690
39.

Role of gain of 12p in germ cell tumour development.

Looijenga LH, Zafarana G, Grygalewicz B, Summersgill B, Debiec-Rychter M, Veltman J, Schoenmakers EF, Rodriguez S, Jafer O, Clark J, van Kessel AG, Shipley J, van Gurp RJ, Gillis AJ, Oosterhuis JW.

APMIS. 2003 Jan;111(1):161-71; discussion 172-3. Review.

PMID:
12752258
40.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM.

Am J Hum Genet. 2003 Jun;72(6):1578-84. Epub 2003 May 9.

41.

Ethnic variations in uterine leiomyoma biology are not caused by differences in myometrial estrogen receptor alpha levels.

Amant F, Huys E, Geurts-Moespot A, Lindeque BG, Vergote I, Sweep F, Schoenmakers EF.

J Soc Gynecol Investig. 2003 Feb;10(2):105-9.

PMID:
12594000
42.

Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma.

Blank C, Schoenmakers EF, Rogalla P, Huys EH, van Rijk AA, Drieschner N, Bullerdiek J.

Cytogenet Cell Genet. 2001;95(1-2):17-9.

PMID:
11978964
43.

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.

Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, van Cleef B, van Ravenswaaij CM, Brunner HG, Smeets D, van Kessel AG.

Am J Hum Genet. 2002 May;70(5):1269-76. Epub 2002 Apr 9.

44.

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.

Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ.

J Med Genet. 2002 Feb;39(2):98-104.

45.

Cumulative dosage effect of a RAD51L1/HMGA2 fusion and RAD51L1 loss in a case of pseudo-Meigs' syndrome.

Amant F, Debiec-Rychter M, Schoenmakers EF, Hagemeijer-Hausman A, Vergote I.

Genes Chromosomes Cancer. 2001 Dec;32(4):324-9.

PMID:
11746973
46.

Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.

Debeer P, Schoenmakers EF, Thoelen R, Holvoet M, Kuittinen T, Fabry G, Fryns JP, Goodman FR, Van de Ven WJ.

Eur J Hum Genet. 2000 Aug;8(8):561-70.

47.

Deletion 7q in uterine leiomyoma: fluorescence in situ hybridization characterization on primary cytogenetic preparations.

Vanni R, Schoenmakers EF, Andria M.

Cancer Genet Cytogenet. 1999 Sep;113(2):183-7.

PMID:
10484989
48.

LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes.

Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ.

Genomics. 1999 May 1;57(3):438-41.

PMID:
10329012
49.
50.

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.

Debeer P, Schoenmakers EF, Thoelen R, Fryns JP, Van de Ven WJ.

Cytogenet Cell Genet. 1998;81(3-4):229-34.

PMID:
9730609

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