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Two new cases of analphoid marker chromosomes.
Spiegel M, Hickmann G, Senger G, Kozlowski P, Bartsch O. Spiegel M, et al. Am J Med Genet A. 2003 Jan 30;116A(3):284-9. doi: 10.1002/ajmg.a.10916. Am J Med Genet A. 2003. PMID: 12503108
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E. Bartsch O, et al. Among authors: spiegel m. Cytogenet Genome Res. 2007;119(1-2):158-64. doi: 10.1159/000109634. Epub 2007 Dec 14. Cytogenet Genome Res. 2007. PMID: 18160797
Childhood overgrowth in patients with common NF1 microdeletions.
Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanová E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S. Spiegel M, et al. Eur J Hum Genet. 2005 Jul;13(7):883-8. doi: 10.1038/sj.ejhg.5201419. Eur J Hum Genet. 2005. PMID: 15856072
235 results