Haaf T - Search Results

1

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. Among authors: haaf t. Neurogenetics. 2010 Feb;11(1):81-9. doi: 10.1007/s10048-009-0205-1. Epub 2009 Jul 7. Neurogenetics. 2010. PMID: 19582487

2

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. Among authors: haaf t. 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

3

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

Poot M, Haaf T. Poot M, et al. Among authors: haaf t. 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.

4

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.

Bartsch O, Schneider E, Damatova N, Weis R, Tufano M, Iorio R, Ahmed A, Beyer V, Zechner U, Haaf T. Bartsch O, et al. Among authors: haaf t. Am J Med Genet A. 2010 Aug;152A(8):2099-102. doi: 10.1002/ajmg.a.33542. Am J Med Genet A. 2010. PMID: 20635403

5

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

Zechner U, Kohlschmidt N, Rittner G, Damatova N, Beyer V, Haaf T, Bartsch O. Zechner U, et al. Among authors: haaf t. Clin Genet. 2009 Mar;75(3):251-8. doi: 10.1111/j.1399-0004.2008.01116.x. Clin Genet. 2009. PMID: 19250383

6

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: haaf t. Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550759 Free PMC article.

7

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

Damatova N, Beyer V, Galetzka D, Schneider E, Napiontek U, Keilmann A, Zechner U, Bartsch O, Haaf T. Damatova N, et al. Among authors: haaf t. Cytogenet Genome Res. 2009;125(3):241-7. doi: 10.1159/000230008. Epub 2009 Sep 4. Cytogenet Genome Res. 2009. PMID: 19738384

8

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. Behnecke A, et al. Among authors: haaf t. Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Am J Med Genet A. 2011. PMID: 21271657 Review.

9

Lessons for aging from Werner syndrome epigenetics.

Martin GM, Poot M, Haaf T. Martin GM, et al. Among authors: haaf t. 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.

10

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: haaf t. 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

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