Eleveld MJ - Search Results

1

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

Poot M, Kroes HY, V D Wijst SE, Eleveld MJ, Rooms L, Nievelstein RA, Olde Weghuis D, Vreuls RC, Hageman G, Kooy F, Hochstenbach R. Poot M, et al. Among authors: eleveld mj. Am J Med Genet A. 2007 May 15;143A(10):1038-44. doi: 10.1002/ajmg.a.31690. Am J Med Genet A. 2007. PMID: 17431901

2

Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Poot M, Eleveld MJ, van 't Slot R, van Genderen MM, Verrijn Stuart AA, Hochstenbach R, Beemer FA. Poot M, et al. Among authors: eleveld mj. Eur J Med Genet. 2007 Nov-Dec;50(6):432-40. doi: 10.1016/j.ejmg.2007.08.003. Epub 2007 Sep 9. Eur J Med Genet. 2007. PMID: 17931990

3

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Flipsen-ten Berg K, van Hasselt PM, Eleveld MJ, van der Wijst SE, Hol FA, de Vroede MA, Beemer FA, Hochstenbach PF, Poot M. Flipsen-ten Berg K, et al. Among authors: eleveld mj. Eur J Hum Genet. 2007 Nov;15(11):1132-8. doi: 10.1038/sj.ejhg.5201899. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637805

4

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M. Ozgen HM, et al. Among authors: eleveld mj. J Autism Dev Disord. 2009 Feb;39(2):322-9. doi: 10.1007/s10803-008-0627-x. Epub 2008 Aug 12. J Autism Dev Disord. 2009. PMID: 18696223

5

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Poot M, Eleveld MJ, van 't Slot R, Ploos van Amstel HK, Hochstenbach R. Poot M, et al. Among authors: eleveld mj. Eur J Hum Genet. 2010 Jan;18(1):39-46. doi: 10.1038/ejhg.2009.120. Eur J Hum Genet. 2010. PMID: 19623214 Free PMC article.

6

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Courtens W, et al. Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. Am J Med Genet A. 2006. PMID: 16470743 Review.

7

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

Bodmer D, Eleveld MJ, Ligtenberg MJ, Weterman MA, Janssen BA, Smeets DF, de Wit PE, van den Berg A, van den Berg E, Koolen MI, Geurts van Kessel A. Bodmer D, et al. Among authors: eleveld mj. Am J Hum Genet. 1998 Jun;62(6):1475-83. doi: 10.1086/301888. Am J Hum Genet. 1998. PMID: 9585616 Free PMC article.

8

Understanding familial and non-familial renal cell cancer.

Bodmer D, van den Hurk W, van Groningen JJ, Eleveld MJ, Martens GJ, Weterman MA, van Kessel AG. Bodmer D, et al. Among authors: eleveld mj. Hum Mol Genet. 2002 Oct 1;11(20):2489-98. doi: 10.1093/hmg/11.20.2489. Hum Mol Genet. 2002. PMID: 12351585 Review.

9

Renal cell cancer: chromosome 3 translocations as risk factors.

van Kessel AG, Wijnhoven H, Bodmer D, Eleveld M, Kiemeney L, Mulders P, Weterman M, Ligtenberg M, Smeets D, Smits A. van Kessel AG, et al. J Natl Cancer Inst. 1999 Jul 7;91(13):1159-60. doi: 10.1093/jnci/91.13.1159. J Natl Cancer Inst. 1999. PMID: 10393725 No abstract available.

10

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. Bonne A, et al. Cancer Genet Cytogenet. 2007 Nov;179(1):11-8. doi: 10.1016/j.cancergencyto.2007.07.005. Cancer Genet Cytogenet. 2007. PMID: 17981209

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