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First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.
Meins M, Böhm D, Großmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P. Meins M, et al. Among authors: speicher mr. Am J Med Genet A. 2004 May 15;127A(1):58-64. doi: 10.1002/ajmg.a.20644. Am J Med Genet A. 2004. PMID: 15103719
Multiplex-FISH for pre- and postnatal diagnostic applications.
Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR. Uhrig S, et al. Among authors: speicher mr. Am J Hum Genet. 1999 Aug;65(2):448-62. doi: 10.1086/302508. Am J Hum Genet. 1999. PMID: 10417288 Free PMC article.
Classifying by colors: FISH-based genome analysis.
Fauth C, Speicher MR. Fauth C, et al. Among authors: speicher mr. Cytogenet Cell Genet. 2001;93(1-2):1-10. doi: 10.1159/000056937. Cytogenet Cell Genet. 2001. PMID: 11474168 Review.
220 results