Poot M - Search Results

1

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.

van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van 't Slot R, van Es MA, Staal FJ, Freitag CM, Buizer-Voskamp JE, Nelen MR, van den Berg LH, van Amstel HK, van Engeland H, Burbach JP. van der Zwaag B, et al. Among authors: poot m. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):960-6. doi: 10.1002/ajmg.b.31055. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20029941 Free PMC article.

2

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: poot m. 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

3

Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, Vorstman JA, van Daalen E, de Jonge MV, Verbeek NE, Brilstra EH, van 't Slot R, Ophoff RA, van Es MA, Blauw HM, Veldink JH, Buizer-Voskamp JE, Beemer FA, van den Berg LH, Wijmenga C, van Amstel HK, van Engeland H, Burbach JP, Staal WG. van der Zwaag B, et al. Among authors: poot m. PLoS One. 2009 May 28;4(5):e5324. doi: 10.1371/journal.pone.0005324. PLoS One. 2009. PMID: 19492091 Free PMC article.

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

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.

Ozgen HM, van Daalen E, Bolton PF, Maloney VK, Huang S, Cresswell L, van den Boogaard MJ, Eleveld MJ, van 't Slot R, Hochstenbach R, Beemer FA, Barrow M, Barber JC, Poot M. Ozgen HM, et al. Among authors: poot m. Clin Genet. 2009 Oct;76(4):348-56. doi: 10.1111/j.1399-0004.2009.01254.x. Clin Genet. 2009. PMID: 19793310

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

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception.

Poot M, van't Slot R, Leupert R, Beyer V, Passarge E, Haaf T. Poot M, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):27-30. doi: 10.1016/j.ejmg.2008.11.002. Epub 2008 Nov 19. Eur J Med Genet. 2009. PMID: 19041736

8

A duplication including GATA4 does not co-segregate with congenital heart defects.

Joziasse IC, van der Smagt JJ, Poot M, Hochstenbach R, Nelen MR, van Gijn M, Dooijes D, Mulder BJ, Doevendans PA. Joziasse IC, et al. Among authors: poot m. Am J Med Genet A. 2009 May;149A(5):1062-6. doi: 10.1002/ajmg.a.32769. Am J Med Genet A. 2009. PMID: 19353638 No abstract available.

9

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.

10

Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.

van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA, Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH, Poot M. van Daalen E, et al. Among authors: poot m. Neurogenetics. 2011 Nov;12(4):315-23. doi: 10.1007/s10048-011-0297-2. Epub 2011 Aug 12. Neurogenetics. 2011. PMID: 21837366 Free PMC article.

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