Lybaek H - Search Results

1

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

Lybaek H, Meza-Zepeda LA, Kresse SH, Høysaeter T, Steen VM, Houge G. Lybaek H, et al. Eur J Hum Genet. 2008 Nov;16(11):1318-28. doi: 10.1038/ejhg.2008.78. Epub 2008 May 7. Eur J Hum Genet. 2008. PMID: 18461090

2

Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.

Ness GO, Lybaek H, Houge G. Ness GO, et al. Among authors: lybaek h. Am J Med Genet. 2002 Nov 22;113(2):125-36. doi: 10.1002/ajmg.10593. Am J Med Genet. 2002. PMID: 12407702

3

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G. Lybaek H, et al. Eur J Hum Genet. 2009 Jul;17(7):904-10. doi: 10.1038/ejhg.2008.261. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156171 Free PMC article.

4

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

Lybaek H, Øyen N, Fauske L, Houge G. Lybaek H, et al. Clin Genet. 2008 Dec;74(6):553-9. doi: 10.1111/j.1399-0004.2008.01072.x. Epub 2008 Aug 18. Clin Genet. 2008. PMID: 18717686

5

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction?

Houge G, Lybaek H, Gulati S. Houge G, et al. Among authors: lybaek h. BMC Med Genet. 2009 May 18;10:42. doi: 10.1186/1471-2350-10-42. BMC Med Genet. 2009. PMID: 19445731 Free PMC article.

6

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich-Turner syndrome patient with three children.

Houge G, Boman H, Lybaek H, Ness GO, Juliusson PB. Houge G, et al. Among authors: lybaek h. Am J Med Genet A. 2006 May 15;140(10):1092-7. doi: 10.1002/ajmg.a.31204. Am J Med Genet A. 2006. PMID: 16596671

7

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E. Misceo D, et al. Among authors: lybaek h. Am J Med Genet A. 2009 Dec;149A(12):2877-81. doi: 10.1002/ajmg.a.33106. Am J Med Genet A. 2009. PMID: 19938092 No abstract available.

8

RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.

Lybæk H, de Bruijn D, den Engelsman-van Dijk AH, Vanichkina D, Nepal C, Brendehaug A, Houge G. Lybæk H, et al. Epigenetics. 2014 Mar;9(3):416-27. doi: 10.4161/epi.27474. Epub 2013 Dec 18. Epigenetics. 2014. PMID: 24351654 Free PMC article.

9

DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder.

Håvik B, Degenhardt FA, Johansson S, Fernandes CP, Hinney A, Scherag A, Lybæk H, Djurovic S, Christoforou A, Ersland KM, Giddaluru S, O'Donovan MC, Owen MJ, Craddock N, Mühleisen TW, Mattheisen M, Schimmelmann BG, Renner T, Warnke A, Herpertz-Dahlmann B, Sinzig J, Albayrak Ö, Rietschel M, Nöthen MM, Bramham CR, Werge T, Hebebrand J, Haavik J, Andreassen OA, Cichon S, Steen VM, Le Hellard S. Håvik B, et al. Among authors: lybaek h. PLoS One. 2012;7(4):e35424. doi: 10.1371/journal.pone.0035424. Epub 2012 Apr 23. PLoS One. 2012. PMID: 22539971 Free PMC article.

10

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.

Lybaek H, Robson M, de Leeuw N, Hehir-Kwa JY, Jeffries A, Haukanes BI, Berland S, de Bruijn D, Mundlos S, Spielmann M, Houge G. Lybaek H, et al. Autism Res. 2022 Mar;15(3):421-433. doi: 10.1002/aur.2677. Epub 2022 Jan 28. Autism Res. 2022. PMID: 35088940 Free PMC article.

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