Ehrbrecht A - Search Results

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Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1).

Zahn S, Ehrbrecht A, Bosse K, Kalscheuer V, Propping P, Schwanitz G, Albrecht B, Engels H. Zahn S, et al. Among authors: ehrbrecht a. Am J Med Genet A. 2005 Nov 15;139(1):19-24. doi: 10.1002/ajmg.a.30995. Am J Med Genet A. 2005. PMID: 16222663

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H. Engels H, et al. Among authors: ehrbrecht a. Am J Med Genet. 2002 Aug 1;111(2):205-9. doi: 10.1002/ajmg.10560. Am J Med Genet. 2002. PMID: 12210352 Review.

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber RG, Kornblum C. Netzer C, et al. Among authors: ehrbrecht a. Acta Neurol Scand. 2006 Aug;114(2):133-8. doi: 10.1111/j.1600-0404.2006.00626.x. Acta Neurol Scand. 2006. PMID: 16867037

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.

Engels H, Ehrbrecht A, Zahn S, Bosse K, Vrolijk H, White S, Kalscheuer V, Hoovers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK. Engels H, et al. Among authors: ehrbrecht a. Eur J Hum Genet. 2003 Sep;11(9):643-51. doi: 10.1038/sj.ejhg.5201028. Eur J Hum Genet. 2003. PMID: 12939649

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: ehrbrecht a. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119

Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components.

Ehrbrecht A, Müller U, Wolter M, Hoischen A, Koch A, Radlwimmer B, Actor B, Mincheva A, Pietsch T, Lichter P, Reifenberger G, Weber RG. Ehrbrecht A, et al. J Pathol. 2006 Mar;208(4):554-63. doi: 10.1002/path.1925. J Pathol. 2006. PMID: 16400626

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