Tommerup N - Search Results

1

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.

2

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K. Byrjalsen A, et al. Among authors: tommerup n. PLoS Genet. 2020 Dec 17;16(12):e1009231. doi: 10.1371/journal.pgen.1009231. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33332384 Free PMC article.

3

Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers.

Bache I, Brondum-Nielsen K, Tommerup N. Bache I, et al. Among authors: tommerup n. Genet Med. 2007 Mar;9(3):185-7. doi: 10.1097/gim.0b013e3180314671. Genet Med. 2007. PMID: 17413423

4

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.

5

Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement.

Bache I, Hasle H, Tommerup N, Olsen JH. Bache I, et al. Among authors: tommerup n. Genes Chromosomes Cancer. 2006 Mar;45(3):231-46. doi: 10.1002/gcc.20285. Genes Chromosomes Cancer. 2006. PMID: 16281259

6

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N. Halgren C, et al. Among authors: tommerup n. Eur J Hum Genet. 2012 Dec;20(12):1315-9. doi: 10.1038/ejhg.2012.92. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617346 Free PMC article.

7

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.

8

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

Luukkonen TM, Mehrjouy MM, Pöyhönen M, Anttonen AK, Lahermo P, Ellonen P, Paulin L, Tommerup N, Palotie A, Varilo T. Luukkonen TM, et al. Among authors: tommerup n. Mol Genet Genomic Med. 2018 Jan;6(1):56-68. doi: 10.1002/mgg3.346. Epub 2017 Nov 23. Mol Genet Genomic Med. 2018. PMID: 29168350 Free PMC article.

9

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.

10

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.

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