Dauwerse JG - Search Results

1

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Dauwerse JG, et al. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131976

2

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ. Dauwerse JG, et al. Eur J Hum Genet. 2007 Jul;15(7):743-51. doi: 10.1038/sj.ejhg.5201833. Epub 2007 Apr 18. Eur J Hum Genet. 2007. PMID: 17440500

3

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.

Dauwerse JG, Ruivenkamp CA, Hansson K, Marijnissen GM, Peters DJ, Breuning MH, Hilhorst-Hofstee Y. Dauwerse JG, et al. Am J Med Genet A. 2010 Feb;152A(2):427-33. doi: 10.1002/ajmg.a.33203. Am J Med Genet A. 2010. PMID: 20082467

4

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: dauwerse jg. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

5

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Gijsbers AC, Dauwerse JG, Bosch CA, Boon EM, van den Ende W, Kant SG, Hansson KM, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: dauwerse jg. Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. Epub 2011 May 23. Eur J Med Genet. 2011. PMID: 21664500

6

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

Dauwerse JG, van Belzen M, van Haeringen A, van Santen G, van de Lans C, Rahikkala E, Garavelli L, Breuning M, Hennekam R, Peters D. Dauwerse JG, et al. Eur J Hum Genet. 2016 Nov;24(11):1639-1643. doi: 10.1038/ejhg.2016.47. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165009 Free PMC article.

7

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, Deruiter MC, Breuning MH, de Heer E, Peters DJ. Lantinga-van Leeuwen IS, et al. Among authors: dauwerse jg. Hum Mol Genet. 2004 Dec 15;13(24):3069-77. doi: 10.1093/hmg/ddh336. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496422

8

Multiple colors by fluorescence in situ hybridization using ratio-labelled DNA probes create a molecular karyotype.

Dauwerse JG, Wiegant J, Raap AK, Breuning MH, van Ommen GJ. Dauwerse JG, et al. Hum Mol Genet. 1992 Nov;1(8):593-8. doi: 10.1093/hmg/1.8.593. Hum Mol Genet. 1992. PMID: 1301168

9

Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect.

Dauwerse JG, De Die-Smulders CE, Bakker E, Breuning MH, Peters DJ. Dauwerse JG, et al. J Med Genet. 2002 Sep;39(9):686-8. doi: 10.1136/jmg.39.9.686. J Med Genet. 2002. PMID: 12205114 Free PMC article. No abstract available.

10

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Breuning MH, Snijdewint FG, Dauwerse JG, Saris JJ, Bakker E, Pearson PL, vanOmmen GJ. Breuning MH, et al. Among authors: dauwerse jg. J Med Genet. 1990 Oct;27(10):614-7. doi: 10.1136/jmg.27.10.614. J Med Genet. 1990. PMID: 1978861 Free PMC article.

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