Houge G - Search Results

1

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: houge g. 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.

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: houge g. Am J Med Genet. 2002 Nov 22;113(2):125-36. doi: 10.1002/ajmg.10593. Am J Med Genet. 2002. PMID: 12407702

3

Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR.

Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Strømme P, Akre B, Vermeulen S. Houge G, et al. Am J Med Genet A. 2003 Apr 30;118A(3):235-40. doi: 10.1002/ajmg.a.10106. Am J Med Genet A. 2003. PMID: 12673653

4

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. 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

5

Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

Gradek GA, Kvistad PH, Houge G. Gradek GA, et al. Among authors: houge g. Eur J Med Genet. 2006 Jul-Aug;49(4):292-7. doi: 10.1016/j.ejmg.2005.08.004. Epub 2005 Oct 6. Eur J Med Genet. 2006. PMID: 16829350

6

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.

Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G. Ørstavik KH, et al. Among authors: houge g. Am J Med Genet A. 2007 Jul 1;143A(13):1510-3. doi: 10.1002/ajmg.a.31797. Am J Med Genet A. 2007. PMID: 17568423

7

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. Among authors: houge g. 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

8

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. Among authors: houge g. 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

9

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. Among authors: houge g. 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.

10

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. BMC Med Genet. 2009 May 18;10:42. doi: 10.1186/1471-2350-10-42. BMC Med Genet. 2009. PMID: 19445731 Free PMC article.

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