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AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.
Klever MK, Sträng E, Hetzel S, Jungnitsch J, Dolnik A, Schöpflin R, Schrezenmeier JF, Schick F, Blau O, Westermann J, Rücker FG, Xia Z, Döhner K, Schrezenmeier H, Spielmann M, Meissner A, Melo US, Mundlos S, Bullinger L. Klever MK, et al. Among authors: spielmann m. Blood Adv. 2023 Nov 14;7(21):6520-6531. doi: 10.1182/bloodadvances.2023010887. Blood Adv. 2023. PMID: 37582288 Free PMC article.
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Spielmann M, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e441-5. doi: 10.1016/j.ejmg.2011.04.004. Epub 2011 Apr 29. Eur J Med Genet. 2011. PMID: 21596161
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Spielmann M, et al. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022097 Free PMC article.
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: spielmann m. J Med Genet. 2015 Jul;52(7):476-83. doi: 10.1136/jmedgenet-2015-103108. Epub 2015 Jun 1. J Med Genet. 2015. PMID: 26032025
329 results