Gunnar Houge

Gunnar Houge

UNVERIFIED PROFILE

Are you Gunnar Houge?   Register this Author

Register author
Gunnar Houge

Gunnar Houge

Publications by authors named "Gunnar Houge"

Are you Gunnar Houge?   Register this Author

92Publications

2304Reads

9Profile Views

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Dominant ARL3-related retinitis pigmentosa.

Ophthalmic Genet 2019 Apr 1;40(2):124-128. Epub 2019 Apr 1.

d Department of Medical Genetics , Haukeland University Hospital , Bergen , Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2019.1586965DOI Listing
April 2019

A Novel Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Mol Syndromol 2019 Jan 15;9(5):228-234. Epub 2018 Aug 15.

Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362854PMC
January 2019

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Clin Case Rep 2018 02 4;6(2):353-362. Epub 2018 Jan 4.

Department of Neurology Haukeland University Hospital Bergen Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799652PMC
February 2018

Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Clin Case Rep 2018 01 28;6(1):91-95. Epub 2017 Nov 28.

Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ccr3.1300
Publisher Site
http://dx.doi.org/10.1002/ccr3.1300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771875PMC
January 2018

Secretary Generals on recent ESHG presidents (2003-2015).

Eur J Hum Genet 2017 12;25(s2):S20-S22

Universtiy of Bergen, Department of Clinical Science, Postboks 7804, 5020, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763255PMC
December 2017

The inner life and structure of ESHG.

Eur J Hum Genet 2017 12;25(s2):S16-S19

Vienna Medical Academy, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763254PMC
December 2017

Pathomechanisms of renal Fabry disease.

Cell Tissue Res 2017 07 12;369(1):53-62. Epub 2017 Apr 12.

Department of Clinical Medicine, University of Bergen, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00441-017-2609-9DOI Listing
July 2017

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Acta Ophthalmol 2017 May 24;95(3):240-246. Epub 2016 Oct 24.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.13273DOI Listing
May 2017

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.

Bioinformatics 2016 10 10;32(19):3018-20. Epub 2016 Jun 10.

Department of Clinical Science, University of Bergen, Bergen 5020, Norway Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/btw359DOI Listing
October 2016

A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.

Ann Neurol 2016 08 28;80(2):311-2. Epub 2016 Jun 28.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24699DOI Listing
August 2016

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

Eur J Med Genet 2016 Apr 22;59(4):240-8. Epub 2016 Jan 22.

Frambu Resource Centre for Rare Disorders, Siggerud, Norway. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.01.004DOI Listing
April 2016

[Where is the boundary between diagnostics and research?].

Authors:
Gunnar Houge

Tidsskr Nor Laegeforen 2015 Oct 6;135(18):1632. Epub 2015 Oct 6.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.15.0817DOI Listing
October 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.

Heart 2014 Nov 16;100(22):1793-8. Epub 2014 Jul 16.

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/heartjnl-2014-305616DOI Listing
November 2014

Ocular pterygium--digital keloid dysplasia.

Am J Med Genet A 2014 Nov 14;164A(11):2901-7. Epub 2014 Aug 14.

Instituto Nacional de Salud del Nino, Lima, Peru.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36713DOI Listing
November 2014

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Ann Neurol 2014 Nov 4;76(5):758-64. Epub 2014 Oct 4.

Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada; Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Anatomical Pathology and Cytopathology, Calgary Laboratory Services, Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24274DOI Listing
November 2014

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

JIMD Rep 2014 16;17:83-90. Epub 2014 Sep 16.

Department of Internal Medicine, Division Endocrinology and Metabolism, Amsterdam lysosome centre 'Sphinx', Academic Medical Center, University of Amsterdam, Room F5-166, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241201PMC
November 2014

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Eur J Med Genet 2014 Sep 13;57(9):520-3. Epub 2014 Jun 13.

Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.06.003DOI Listing
September 2014

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Am J Med Genet A 2014 Jul 26;164A(7):1622-6. Epub 2014 Mar 26.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36498DOI Listing
July 2014

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

Epigenetics 2014 Mar 18;9(3):416-27. Epub 2013 Dec 18.

Center for Medical Genetics and Molecular Medicine; Haukeland University Hospital; Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/epi.27474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053460PMC
March 2014

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

Am J Hum Genet 2014 Jan;94(1):153-4

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882914PMC
January 2014

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Eur J Hum Genet 2013 Dec 10;21(12):1344-8. Epub 2013 Apr 10.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831082PMC
December 2013

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.

Neurology 2013 Sep 14;81(12):1099-100. Epub 2013 Aug 14.

From the Center for Medical Genetics and Molecular Medicine (G.H., O.B.), Haukeland University Hospital, Bergen; Section for Medical Genetics (I.B.), Department of Pathology, St. Olavs Hospital, Trondheim, Norway; Centre for Molecular Medicine and Therapeutics (M.R.H., A.S.), Vancouver; and University of British Columbia (M.R.H., A.S.), Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0b013e3182a4a4afDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795589PMC
September 2013

Agalsidase benefits renal histology in young patients with Fabry disease.

J Am Soc Nephrol 2013 Jan;24(1):137-48

Renal Research Group, Institute of Medicine, University of Bergen, Haukeland University Hospital, N-5021 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2012030316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537211PMC
January 2013

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

Meningocele following aplasia of the occipital bone.

BMJ Case Rep 2011 Feb 17;2011:3437. Epub 2011 Feb 17.

Department of Obstetrics and Gynecology, Stavanger University Hospital, Stavanger, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr.10.2010.3437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063890PMC
February 2011

Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion.

Eur J Clin Invest 2010 Dec 9;40(12):1104-12. Epub 2010 Sep 9.

Catalyst Health Economics Consultants, Northwood, Middlesex, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2362.2010.02363.xDOI Listing
December 2010

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

Clin Dysmorphol 2010 Oct;19(4):222-4

Department of Clinical Genetics, St. Olavs Hospital HF, Trondheim, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32833dc589DOI Listing
October 2010

Usefulness of factor V Leiden mutation testing in clinical practice.

Eur J Hum Genet 2010 Aug 24;18(8):862-6. Epub 2010 Mar 24.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987383PMC
August 2010

[Determination of chromosome aberrations with the help of DNA arrays].

Tidsskr Nor Laegeforen 2010 May;130(9):944-7

Avdeling for medisinsk genetikk, Oslo universitetssykehus, Ullevål 0407 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.10.0101DOI Listing
May 2010

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

J Mol Diagn 2010 Jan 10;12(1):125-31. Epub 2009 Dec 10.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2353/jmoldx.2010.090033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797727PMC
January 2010

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

Am J Med Genet A 2009 Dec;149A(12):2877-81

Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33106DOI Listing
December 2009

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Tidsskr Nor Laegeforen 2009 Nov;129(22):2358-61

Gades institutt, Universitetet i Bergen og Avdeling for patologi Haukeland universitetssykehus 5021 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4045/tidsskr.09.0267DOI Listing
November 2009

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

BMC Med Genet 2009 May 18;10:42. Epub 2009 May 18.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2350-10-42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2691399PMC
May 2009

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

Eur J Hum Genet 2008 Nov 7;16(11):1318-28. Epub 2008 May 7.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Helse Bergen HF, Bergen, Norway.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg200878
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.78DOI Listing
November 2008

Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria.

Clin Ther 2008 ;30 Suppl B:S42

Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
September 2008

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg.

PLoS One 2007 Jul 11;2(7):e598. Epub 2007 Jul 11.

Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, Amsterdam, Netherlands; Department of Medical Biochenmistry, Academic Medical Center/University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0000598PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1913555PMC
July 2007

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.

Eur J Hum Genet 2007 May 7;15(5):543-7. Epub 2007 Mar 7.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201800DOI Listing
May 2007

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.

Am J Med Genet A 2007 Jan;143A(2):129-34

Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31445DOI Listing
January 2007

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

Eur J Med Genet 2006 Jul-Aug;49(4):292-7. Epub 2005 Oct 6.

Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120500133
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2005.08.004DOI Listing
September 2006

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

Am J Med Genet A 2006 May;140(10):1092-7

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31204DOI Listing
May 2006

[Cancer in children--good results can be even better].

Tidsskr Nor Laegeforen 2006 Mar;126(7):926-9

Børneonkologisk afsnit, Børneafdelingen, Aalborg Sygehus, DK-9100 Aalborg.

View Article

Download full-text PDF

Source
March 2006

[Fabry disease--a diagnostic and therapeutic challenge].

Tidsskr Nor Laegeforen 2005 Apr;125(8):1004-6

Kompetansesenteret for Fabry sykdom, Senter for medisinsk genetikk og molekylaermedisin, Haukeland Universitetssjukehus, 5021 Bergen.

View Article

Download full-text PDF

Source
April 2005

[Intravenous enzyme substitution therapy in children with Fabry's disease].

Tidsskr Nor Laegeforen 2003 Dec;123(23):3388-90

Senter for medisinsk genetikk og molekylaemedisin, Haukeland Universitettssykehus, Bergen.

View Article

Download full-text PDF

Source
December 2003

[Diagnosis of cryptic chromosome aberrations].

Tidsskr Nor Laegeforen 2003 Sep;123(17):2418-21

Senter for medisink genetikk og molekylaemedisin, Haukeland Universitetssykehus, Bergen.

View Article

Download full-text PDF

Source
September 2003

[Fetal valproate syndrome].

Tidsskr Nor Laegeforen 2003 Aug;123(16):2331

View Article

Download full-text PDF

Source
August 2003

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

Am J Med Genet A 2003 Apr;118A(3):235-40

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10106DOI Listing
April 2003

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

Am J Med Genet 2002 Nov;113(2):125-36

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10593DOI Listing
November 2002

[Screening for DiGeorge syndrome and other genetic diseases].

Authors:
Gunnar Houge

Tidsskr Nor Laegeforen 2002 Jan;122(1):101-2

View Article

Download full-text PDF

Source
January 2002