Grasshoff U - Search Results

1

Mapping translocation breakpoints by next-generation sequencing.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Chen W, et al. Among authors: grasshoff u. Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7. Genome Res. 2008. PMID: 18326688 Free PMC article.

2

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A. Grasshoff U, et al. Cytogenet Genome Res. 2003;103(1-2):17-23. doi: 10.1159/000076282. Cytogenet Genome Res. 2003. PMID: 15004458

3

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.

McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Among authors: grasshoff u. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127

4

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D. Grasshoff U, et al. Eur J Hum Genet. 2011 May;19(5):507-12. doi: 10.1038/ejhg.2010.226. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326285 Free PMC article.

5

Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.

Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O. Tzschach A, et al. Among authors: grasshoff u. Am J Med Genet A. 2012 Jul;158A(7):1709-12. doi: 10.1002/ajmg.a.35398. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639460

6

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

Begemann M, Spengler S, Gogiel M, Grasshoff U, Bonin M, Betz RC, Dufke A, Spier I, Eggermann T. Begemann M, et al. Among authors: grasshoff u. J Med Genet. 2012 Sep;49(9):547-53. doi: 10.1136/jmedgenet-2012-100967. Epub 2012 Jul 26. J Med Genet. 2012. PMID: 22844132 Free PMC article. Review.

7

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

Riess A, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Horber V, Tzschach A. Riess A, et al. Among authors: grasshoff u. Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi: 10.1002/ajmg.a.35562. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965684

8

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A. Gazou A, et al. Among authors: grasshoff u. Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23520119

9

12q24.33 deletion: report of a patient with intellectual disability and review of the literature.

Kehrer M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach A. Kehrer M, et al. Among authors: grasshoff u. Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi: 10.1002/ajmg.a.35877. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613162 Review.

10

Genome-wide UPD screening in patients with intellectual disability.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Schroeder C, et al. Among authors: grasshoff u. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7. Eur J Hum Genet. 2014. PMID: 24801762 Free PMC article.

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