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De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: tommerup n. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: tommerup n. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C. Aristidou C, et al. Among authors: tommerup n. PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935. eCollection 2017. PLoS One. 2017. PMID: 28072833 Free PMC article.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Aristidou C, Theodosiou A, Bak M, Mehrjouy MM, Constantinou E, Alexandrou A, Papaevripidou I, Christophidou-Anastasiadou V, Skordis N, Kitsiou-Tzeli S, Tommerup N, Sismani C. Aristidou C, et al. Among authors: tommerup n. PLoS One. 2018 Oct 5;13(10):e0205298. doi: 10.1371/journal.pone.0205298. eCollection 2018. PLoS One. 2018. PMID: 30289920 Free PMC article.
Haploinsufficiency of ARHGAP42 is associated with hypertension.
Fjorder AS, Rasmussen MB, Mehrjouy MM, Nazaryan-Petersen L, Hansen C, Bak M, Grarup N, Nørremølle A, Larsen LA, Vestergaard H, Hansen T, Tommerup N, Bache I. Fjorder AS, et al. Among authors: tommerup n. Eur J Hum Genet. 2019 Aug;27(8):1296-1303. doi: 10.1038/s41431-019-0382-9. Epub 2019 Mar 21. Eur J Hum Genet. 2019. PMID: 30903111 Free PMC article.
Regulatory variants of FOXG1 in the context of its topological domain organisation.
Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Mehrjouy MM, et al. Among authors: tommerup n. Eur J Hum Genet. 2018 Feb;26(2):186-196. doi: 10.1038/s41431-017-0011-4. Epub 2017 Dec 30. Eur J Hum Genet. 2018. PMID: 29289958 Free PMC article.
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Halgren C, et al. Among authors: tommerup n. Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805044 Free PMC article.
348 results