Arvid Heiberg

Arvid Heiberg

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Arvid Heiberg

Arvid Heiberg

Publications by authors named "Arvid Heiberg"

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32Publications

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Effect of epilepsy on autism symptoms in Angelman syndrome.

Mol Autism 2018 8;9. Epub 2018 Jan 8.

NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1186/s13229-017-0185-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759870PMC
October 2018

Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls.

J Genet Couns 2018 09 10;27(5):1102-1110. Epub 2018 Feb 10.

Frambu Resource Centre for Rare Disorders, Sandbakkvn 18, Siggerud, Norway.

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http://dx.doi.org/10.1007/s10897-018-0229-5DOI Listing
September 2018

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Am J Med Genet A 2017 May 3;173(5):1447-1449. Epub 2017 Apr 3.

University of Manchester, Division of Evolution and Genomic Science, St Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.38177DOI Listing
May 2017

Parents' attitudes toward genetic research in autism spectrum disorder.

Psychiatr Genet 2016 Apr;26(2):74-80

aNORMENT, K.G. Jebsen Psychosis Research Centre, Institute of Clinical Medicine, University of Oslo bDivision of Mental Health and Addiction cDivision of Medical Genetics dNevSom, Department of Rare Disorders and Disabilities, Oslo University Hospital eAutism Society Norway, Oslo, Norway fDepartment of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Germany gDepartment of Family Medicine & Public Health, University of California, San Diego, USA.

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http://dx.doi.org/10.1097/YPG.0000000000000121DOI Listing
April 2016

[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].

Tidsskr Nor Laegeforen 2016 Mar 15;136(5):437-40. Epub 2016 Mar 15.

Institutt for helse og samfunn Universitetet i Oslo.

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http://dx.doi.org/10.4045/tidsskr.15.0844DOI Listing
March 2016

Understanding the experience of myotonic dystrophy. Mixed method study.

J Genet Couns 2015 Feb 16;24(1):169-78. Epub 2014 Aug 16.

Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, PB 4, St Olavs plass, 0130, Oslo, Norway,

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http://dx.doi.org/10.1007/s10897-014-9752-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297614PMC
February 2015

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.

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

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.

Eur J Hum Genet 2014 Apr 4;22(4):517-21. Epub 2013 Sep 4.

Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2013.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953917PMC
April 2014

[A. Heiberg and colleagues reply].

Tidsskr Nor Laegeforen 2014 Apr 29;134(8):809-10. Epub 2014 Apr 29.

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http://dx.doi.org/10.4045/tidsskr.14.0451DOI Listing
April 2014

[Rarity--a separate criterion used in prioritization?].

Tidsskr Nor Laegeforen 2014 Mar 11;134(5):534-6. Epub 2014 Mar 11.

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http://dx.doi.org/10.4045/tidsskr.14.0120DOI Listing
March 2014

Children with autism spectrum disorders - the importance of medical investigations.

Eur J Paediatr Neurol 2013 Jan 3;17(1):68-76. Epub 2012 Sep 3.

Department of Habilitation, Innlandet Hospital Trust, Maihaugveien 4, 2609 Lillehammer, Norway.

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http://dx.doi.org/10.1016/j.ejpn.2012.08.004DOI Listing
January 2013

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

Neuromuscul Disord 2012 Jun 2;22(6):511-21. Epub 2012 Apr 2.

Department of Clinical Medicine - Medical Genetics, University of Tromsø, NO9037 Tromsø, Norway.

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http://dx.doi.org/10.1016/j.nmd.2012.01.011DOI Listing
June 2012

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Am J Med Genet A 2012 Jan 21;158A(1):215-9. Epub 2011 Nov 21.

Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34376DOI Listing
January 2012

[Dementia among younger persons and Huntington disease].

Tidsskr Nor Laegeforen 2011 Sep;131(17):1639; author reply 1639

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http://dx.doi.org/10.4045/tidsskr.11.0791DOI Listing
September 2011

Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation.

NDT Plus 2010 Jun 8;3(3):303-305. Epub 2010 Apr 8.

Section of Nephrology, Rikshospitalet, Oslo University Hospital, 0027, Oslo, Norway.

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http://dx.doi.org/10.1093/ndtplus/sfq036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477959PMC
June 2010

[Neurofibromatosis type 2 and auditory brainstem implantation].

Tidsskr Nor Laegeforen 2009 Aug;129(15):1469-73

Avdeling for nevropsykiatri og psykosomatisk medisin, Nevroklinikken, Oslo universitetssykehus, Rikshospitalet 0027 Oslo og Institutt for psykiatri Det medisinske fakultet, Universitetet i Oslo, Norway.

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http://dx.doi.org/10.4045/tidsskr.08.0151DOI Listing
August 2009

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence.

Acta Paediatr 2008 Nov 4;97(11):1577-81. Epub 2008 Aug 4.

Division of Paediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institute, Karolinska University Hospital, Huddinge, Sweden.

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http://doi.wiley.com/10.1111/j.1651-2227.2008.00965.x
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http://dx.doi.org/10.1111/j.1651-2227.2008.00965.xDOI Listing
November 2008

Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies.

Acta Obstet Gynecol Scand 2008 ;87(10):998-1005

Department of Obstetrics and Gynecology, Rikshospitalet University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1080/00016340802415630DOI Listing
November 2008

[Huntington's disease].

Authors:
Arvid Heiberg

Tidsskr Nor Laegeforen 2008 Oct;128(19):2214-7

Avdeling for medisinsk genetikk, Rikshospitalet, 0027 Oslo.

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October 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

Acta Ophthalmol Scand 2007 Aug 22;85(5):557-62. Epub 2007 Mar 22.

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

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http://doi.wiley.com/10.1111/j.1600-0420.2007.00890.x
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http://dx.doi.org/10.1111/j.1600-0420.2007.00890.xDOI Listing
August 2007

[Sense of coherence for parents of disabled children].

Tidsskr Nor Laegeforen 2007 Feb;127(4):422-6

Divisjon for epidemiologi, Nasjonalt folkehelseinstitutt, Postboks 4404 Nydalen, 0403 Oslo.

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February 2007

Neurocranial morphology and growth in Williams syndrome.

Eur J Orthod 2005 Feb;27(1):32-47

Department of Orthodontics, Faculty of Dentistry, University of Oslo, Norway.

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http://dx.doi.org/10.1093/ejo/cjh065DOI Listing
February 2005

[New knowledge does not always make it simpler].

Tidsskr Nor Laegeforen 2004 Dec;124(24):3256-7

Frambu senter for sjeldne funksjonshemninger, 1404 Siggerud.

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December 2004

[Complex craniofacial synostoses].

Tidsskr Nor Laegeforen 2004 May;124(9):1230-4

Nevrokirurgisk avdeling, Rikshospitalet, 0027 Oslo.

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May 2004

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation.

Acta Odontol Scand 2003 Jun;61(3):129-36

Department of Orthodontics, Faculty of Dentistry, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1080/00016350310001451DOI Listing
June 2003