Schoenmakers EF - Search Results

1

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. Kuiper RP, et al. Among authors: schoenmakers ef. Hum Mol Genet. 2003 Jul 15;12(14):1661-9. doi: 10.1093/hmg/ddg178. Hum Mol Genet. 2003. PMID: 12837690

2

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. Medendorp K, et al. Among authors: schoenmakers ef. Cytogenet Genome Res. 2007;118(2-4):157-65. doi: 10.1159/000108296. Cytogenet Genome Res. 2007. PMID: 18000366 Review.

3

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. Kuiper RP, et al. Among authors: schoenmakers ef. Nucleic Acids Res. 2004 Apr 26;32(8):2315-22. doi: 10.1093/nar/gkh571. Print 2004. Nucleic Acids Res. 2004. PMID: 15118077 Free PMC article.

4

Chromosome 3 translocations and familial renal cell cancer.

Bonné AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG. Bonné AC, et al. Among authors: schoenmakers ef. Curr Mol Med. 2004 Dec;4(8):849-54. doi: 10.2174/1566524043359593. Curr Mol Med. 2004. PMID: 15579032 Review.

5

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. Veltman IM, et al. Among authors: schoenmakers ef. Hum Mol Genet. 2005 Jul 15;14(14):1955-63. doi: 10.1093/hmg/ddi200. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917269

6

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).

Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG. Bodmer D, et al. Hum Mol Genet. 2002 Mar 15;11(6):641-9. doi: 10.1093/hmg/11.6.641. Hum Mol Genet. 2002. PMID: 11912179

7

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints.

Bodmer D, Janssen I, Jonkers Y, van den Berg E, Dijkhuizen T, Debiec-Rychter M, Schoenmakers E, van Kessel AG. Bodmer D, et al. Cancer Genet Cytogenet. 2002 Jul 15;136(2):95-100. doi: 10.1016/s0165-4608(02)00517-4. Cancer Genet Cytogenet. 2002. PMID: 12237231

8

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. Mukhopadhyay A, et al. Among authors: schoenmakers ef. Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22. Hum Genet. 2010. PMID: 20563892 Free PMC article.

9

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. Veltman JA, et al. Among authors: schoenmakers ef. Am J Hum Genet. 2002 May;70(5):1269-76. doi: 10.1086/340426. Epub 2002 Apr 9. Am J Hum Genet. 2002. PMID: 11951177 Free PMC article.

10

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. Veltman JA, et al. Among authors: schoenmakers ef. Am J Hum Genet. 2003 Jun;72(6):1578-84. doi: 10.1086/375695. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740760 Free PMC article.

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