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Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D. Spreiz A, et al. Among authors: zschocke j. J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19. J Pediatr. 2013. PMID: 23876976
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.
Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: zschocke j. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
Microdeletion 19p13.2 in an almost 5-year-old boy.
Haberlandt E, Spreiz A, Sigl SB, Janetschek C, Röthlisberger B, Zotter S, Rostasy K, Zschocke J, Kotzot D. Haberlandt E, et al. Among authors: zschocke j. Am J Med Genet A. 2012 May;158A(5):1190-4. doi: 10.1002/ajmg.a.35291. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488779
Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.
Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C, Grossmann V, Utermann G, Zschocke J, Kotzot D. Höckner M, et al. Among authors: zschocke j. Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18. Cytogenet Genome Res. 2012. PMID: 22516930 Free article.
335 results