Grasshoff U - Search Results

1

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Ehret JK, Engels H, Cremer K, Becker J, Zimmermann JP, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J, Lee JA, Zink AM. Ehret JK, et al. Among authors: grasshoff u. Mol Cytogenet. 2015 Sep 29;8:72. doi: 10.1186/s13039-015-0178-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 26421060 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

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus; Ekici AB, Reis A, Rauch A. Zweier M, et al. Among authors: grasshoff u. Hum Mutat. 2010 Jun;31(6):722-33. doi: 10.1002/humu.21253. Hum Mutat. 2010. PMID: 20513142

4

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Endris V, et al. Among authors: grasshoff u. Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. Am J Med Genet A. 2010. PMID: 20979196 No abstract available.

5

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.

6

Phenotypic spectrum associated with CASK loss-of-function mutations.

Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. Among authors: grasshoff u. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287

7

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

8

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.

9

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

10

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

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