Poot M - Search Results

1

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

Vona B, Neuner C, El Hajj N, Schneider E, Farcas R, Beyer V, Zechner U, Keilmann A, Poot M, Bartsch O, Nanda I, Haaf T. Vona B, et al. Among authors: poot m. Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550759 Free PMC article.

2

Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Poot M, Haaf T. Poot M, et al. Mol Syndromol. 2015 Sep;6(3):110-34. doi: 10.1159/000438812. Epub 2015 Aug 15. Mol Syndromol. 2015. PMID: 26732513 Free PMC article. Review.

3

Lessons for aging from Werner syndrome epigenetics.

Martin GM, Poot M, Haaf T. Martin GM, et al. Among authors: poot m. Aging (Albany NY). 2020 Feb 5;12(3):2022-2023. doi: 10.18632/aging.102829. Epub 2020 Feb 5. Aging (Albany NY). 2020. PMID: 32023552 Free PMC article. No abstract available.

4

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

5

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, Prothero J, Holder SE, Haaf T. Poot M, et al. Neurogenetics. 2010 Feb;11(1):81-9. doi: 10.1007/s10048-009-0205-1. Epub 2009 Jul 7. Neurogenetics. 2010. PMID: 19582487

6

Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.

Maierhofer A, Flunkert J, Oshima J, Martin GM, Poot M, Nanda I, Dittrich M, Müller T, Haaf T. Maierhofer A, et al. Among authors: poot m. Aging Cell. 2019 Oct;18(5):e12995. doi: 10.1111/acel.12995. Epub 2019 Jul 1. Aging Cell. 2019. PMID: 31259468 Free PMC article.

7

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Bartsch O, Schindler D, Beyer V, Gesk S, van't Slot R, Feddersen I, Buijs A, Jaspers NG, Siebert R, Haaf T, Poot M. Bartsch O, et al. Among authors: poot m. Eur J Med Genet. 2012 Jan;55(1):49-55. doi: 10.1016/j.ejmg.2011.08.001. Epub 2011 Aug 27. Eur J Med Genet. 2012. PMID: 21893220

8

The minor-groove binding DNA-ligands netropsin, distamycin A and berenil cause polyploidisation via impairment of the G2 phase of the cell cycle.

Poot M, Kausch K, Köhler J, Haaf T, Hoehn H. Poot M, et al. Cell Struct Funct. 1990 Jun;15(3):151-7. doi: 10.1247/csf.15.151. Cell Struct Funct. 1990. PMID: 1697788 Free article.

9

A candidate gene association study further corroborates involvement of contactin genes in autism.

Poot M. Poot M. Mol Syndromol. 2014 Aug;5(5):229-35. doi: 10.1159/000362891. Epub 2014 May 17. Mol Syndromol. 2014. PMID: 25337070 Free PMC article.

10

Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.

Poot M. Poot M. Mol Syndromol. 2015 Feb;6(1):7-22. doi: 10.1159/000371594. Epub 2015 Feb 3. Mol Syndromol. 2015. PMID: 25852443 Free PMC article. Review.

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