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336 results
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Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.
Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE. Bech S, et al. Among authors: tommerup n. Mov Disord. 2020 Sep 19. doi: 10.1002/mds.28244. Online ahead of print. Mov Disord. 2020. PMID: 32949189
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.
Bache I, Wadt K, Mehrjouy MM, Rossing M, Østrup O, Byrjalsen A, Tommerup N, Metzner M, Vyas P, Schmiegelow K, Lausen B, Andersen MK. Bache I, et al. Among authors: tommerup n. Blood Cancer J. 2020 Mar 3;10(3):27. doi: 10.1038/s41408-020-0293-6. Blood Cancer J. 2020. PMID: 32127516 Free PMC article. No abstract available.
Chromothripsis and DNA Repair Disorders.
Nazaryan-Petersen L, Bjerregaard VA, Nielsen FC, Tommerup N, Tümer Z. Nazaryan-Petersen L, et al. Among authors: tommerup n. J Clin Med. 2020 Feb 25;9(3):613. doi: 10.3390/jcm9030613. J Clin Med. 2020. PMID: 32106411 Free PMC article. Review.
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
Nazaryan-Petersen L, Oliveira IR, Mehrjouy MM, Mendez JMM, Bak M, Bugge M, Kalscheuer VM, Bache I, Hancks DC, Tommerup N. Nazaryan-Petersen L, et al. Among authors: tommerup n. Hum Mutat. 2019 Aug;40(8):1057-1062. doi: 10.1002/humu.23775. Epub 2019 May 14. Hum Mutat. 2019. PMID: 31033088 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.
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM. Sher M, et al. Among authors: tommerup n. Int J Neurosci. 2019 Sep;129(9):890-895. doi: 10.1080/00207454.2019.1586686. Epub 2019 Mar 20. Int J Neurosci. 2019. PMID: 30892110
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Eiberg H, Mikkelsen AF, Bak M, Tommerup N, Lund AM, Wenzel A, Sabarinathan R, Gorodkin J, Bang-Berthelsen CH, Hansen L. Eiberg H, et al. Among authors: tommerup n. Mol Vis. 2019 Jan 20;25:1-11. eCollection 2019. Mol Vis. 2019. PMID: 30820140 Free PMC article.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Midro AT, Tommerup N, Borys J, Panasiuk B, Kosztyła-Hojna B, Zalewska R, Konstantynowicz J, Łebkowska U, Cooper L, Scherer SE, Mehrjouy MM, Liu Q, Skowroński R, Stankiewicz P. Midro AT, et al. Among authors: tommerup n. Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633344 No abstract available.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Nazaryan-Petersen L, et al. Among authors: tommerup n. PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30419018 Free PMC article.
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.
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