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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Starke H, et al. Among authors: singer s. Hum Genet. 2003 Dec;114(1):51-67. doi: 10.1007/s00439-003-1016-3. Epub 2003 Sep 16. Hum Genet. 2003. PMID: 13680362
Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
Liehr T, Schreyer I, Kuechler A, Manolakos E, Singer S, Dufke A, Wilhelm K, Jančušková T, Čmejla R, Othman MAK, Al-Rikabi AH, Mrasek K, Ziegler M, Kankel S, Kreskowski K, Weise A. Liehr T, et al. Among authors: singer s. Mol Cytogenet. 2018 Mar 9;11:20. doi: 10.1186/s13039-018-0369-1. eCollection 2018. Mol Cytogenet. 2018. PMID: 29541160 Free PMC article.
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: singer s. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.
Mosaic trisomy 21/monosomy 21 in a living female infant.
Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Nguyen HP, et al. Among authors: singer s. Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14. Cytogenet Genome Res. 2009. PMID: 19617693
Discordance between ultrasound and cell free DNA screening for monosomy X.
Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA. Kagan KO, et al. Among authors: singer s. Arch Gynecol Obstet. 2016 Aug;294(2):219-24. doi: 10.1007/s00404-016-4077-y. Epub 2016 Mar 29. Arch Gynecol Obstet. 2016. PMID: 27022934 Review.
2,034 results