Poot M - Search Results

1

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M. Hochstenbach R, et al. Among authors: poot m. Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. doi: 10.1016/j.ejmg.2009.03.015. Epub 2009 Apr 9. Eur J Med Genet. 2009. PMID: 19362174

2

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

Poot M, Hochstenbach R. Poot M, et al. Genet Med. 2010 Aug;12(8):478-85. doi: 10.1097/GIM.0b013e3181e3914a. Genet Med. 2010. PMID: 20734469 Free article. Review.

3

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.

Poot M, Verrijn Stuart AA, van Daalen E, van Iperen A, van Binsbergen E, Hochstenbach R. Poot M, et al. Eur J Med Genet. 2013 Jul;56(7):346-50. doi: 10.1016/j.ejmg.2013.04.001. Epub 2013 Apr 16. Eur J Med Genet. 2013. PMID: 23603061 Review.

4

Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.

Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA. Lichtenbelt KD, et al. Among authors: poot m. Am J Med Genet A. 2005 Jan 1;132A(1):93-100. doi: 10.1002/ajmg.a.30408. Am J Med Genet A. 2005. PMID: 15580634 Review.

5

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

de Pater JM, Poot M, Beemer FA, Bijlsma JB, Hack WW, Van Dam WM, Eleveld MJ, Loneus WH, Engelen JJ. de Pater JM, et al. Among authors: poot m. Eur J Med Genet. 2006 Jan-Feb;49(1):19-27. doi: 10.1016/j.ejmg.2005.01.005. Epub 2005 Feb 8. Eur J Med Genet. 2006. PMID: 16473306

6

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. 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

7

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Engbers H, van der Smagt JJ, van 't Slot R, Vermeesch JR, Hochstenbach R, Poot M. Engbers H, et al. Among authors: poot m. Eur J Hum Genet. 2009 Jan;17(1):129-32. doi: 10.1038/ejhg.2008.168. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830230 Free PMC article.

8

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. 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.

9

Discovery of variants unmasked by hemizygous deletions.

Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: poot m. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.

10

Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?

Hochstenbach R, Ploos van Amstel HK, Poot M. Hochstenbach R, et al. Among authors: poot m. Eur J Hum Genet. 2006 Mar;14(3):262-5. doi: 10.1038/sj.ejhg.5201553. Eur J Hum Genet. 2006. PMID: 16391563 No abstract available.

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