Bache I - Search Results

1

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: bache i. 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.

2

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. Genet Med. 2007 Mar;9(3):185-7. doi: 10.1097/gim.0b013e3180314671. Genet Med. 2007. PMID: 17413423

3

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements.

Bache I, Nielsen NM, Rostgaard K, Tommerup N, Frisch M. Bache I, et al. Arthritis Rheum. 2007 Jul;56(7):2402-9. doi: 10.1002/art.22652. Arthritis Rheum. 2007. PMID: 17599768 Free article.

4

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Halgren C, et al. Among authors: bache i. Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801163 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. Genes Chromosomes Cancer. 2006 Mar;45(3):231-46. doi: 10.1002/gcc.20285. Genes Chromosomes Cancer. 2006. PMID: 16281259

6

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases.

Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Bache I, et al. Eur J Hum Genet. 2006 Apr;14(4):410-7. doi: 10.1038/sj.ejhg.5201592. Eur J Hum Genet. 2006. PMID: 16493440

7

A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.

Buonincontri R, Bache I, Silahtaroglu A, Elbro C, Nielsen AM, Ullmann R, Arkesteijn G, Tommerup N. Buonincontri R, et al. Among authors: bache i. Behav Genet. 2011 Jan;41(1):125-33. doi: 10.1007/s10519-010-9389-2. Epub 2010 Aug 27. Behav Genet. 2011. PMID: 20798984

8

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: bache i. 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.

9

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: bache i. 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.

10

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: bache i. 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.

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