Ketil Heimdal

Ketil Heimdal

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Ketil Heimdal

Ketil Heimdal

Publications by authors named "Ketil Heimdal"

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55Publications

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Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.

Acta Ophthalmol 2019 Aug 19. Epub 2019 Aug 19.

Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/aos.14218DOI Listing
August 2019

Intranasal bevacizumab injections improve quality of life in HHT patients.

Laryngoscope 2019 Jul 9. Epub 2019 Jul 9.

Division of Head and Neck and Reconstructive Surgery, Department of Otorhinolaryngology, Head and Neck Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1002/lary.28179DOI Listing
July 2019

Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis.

Laryngoscope 2019 01 17;129(1):E44-E49. Epub 2018 Oct 17.

Department of Otorhinolaryngology-Head and Neck Surgery, Division of Head and Neck and Reconstructive Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1002/lary.27548DOI Listing
January 2019

Long-term experience with intranasal bevacizumab therapy.

Laryngoscope 2018 10 22;128(10):2237-2244. Epub 2018 Feb 22.

Department of Otorhinolaryngology-Head and Neck Surgery.

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http://doi.wiley.com/10.1002/lary.27147
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http://dx.doi.org/10.1002/lary.27147DOI Listing
October 2018

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Oncotarget 2018 Sep 4;9(69):33202-33214. Epub 2018 Sep 4.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

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http://dx.doi.org/10.18632/oncotarget.26059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145704PMC
September 2018

Abnormally wide eustachian tubes involving the sphenoid bone: A collection.

Laryngoscope Investig Otolaryngol 2018 Jun 25;3(3):214-217. Epub 2018 Apr 25.

Department of Radiology and Nuclear Medicine, Oslo University Hospital Oslo Norway.

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http://doi.wiley.com/10.1002/lio2.158
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http://dx.doi.org/10.1002/lio2.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057216PMC
June 2018

Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report.

Laryngoscope 2018 03 3;128(3):593-596. Epub 2017 Jul 3.

Department of Otorhinolaryngology, Head and Neck Surgery, Oslo University Hospital-Rikshospitalet, Oslo, Norway.

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http://doi.wiley.com/10.1002/lary.26722
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http://dx.doi.org/10.1002/lary.26722DOI Listing
March 2018

Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment.

J Neuroophthalmol 2018 03;38(1):129-131

Department of Ophthalmology, Oslo University Hospital, University of Oslo, Oslo, Norway

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http://dx.doi.org/10.1097/WNO.0000000000000598DOI Listing
March 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet 2016 Aug 7;59(8):367-72. Epub 2016 Jun 7.

Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2016.06.001DOI Listing
August 2016

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.

Cancer Med 2015 Jul 17;4(7):1069-78. Epub 2015 Apr 17.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, 20892-9769.

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http://dx.doi.org/10.1002/cam4.450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529345PMC
July 2015

Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome.

Eur Arch Otorhinolaryngol 2013 Nov 28;270(11):2879-84. Epub 2013 Feb 28.

Faculty of Social Science, Oslo and Akershus University College of Applied Sciences, St. Olavs Plass, Postbox 4, 0130, Oslo, Norway,

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http://dx.doi.org/10.1007/s00405-013-2409-0DOI Listing
November 2013

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.

Disabil Rehabil 2013 Feb 7;35(3):206-13. Epub 2012 Jun 7.

Faculty of Social Sciences, Oslo and Akershus University College of Applied Sciences, Oslo, Norway.

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http://www.tandfonline.com/doi/full/10.3109/09638288.2012.69
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http://dx.doi.org/10.3109/09638288.2012.690500DOI Listing
February 2013

Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review.

Eur J Obstet Gynecol Reprod Biol 2013 Feb 26;166(2):117-23. Epub 2012 Oct 26.

Department of Haematology, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejogrb.2012.09.026DOI Listing
February 2013

Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study.

Am J Med Genet A 2012 Jun 23;158A(6):1269-78. Epub 2012 Apr 23.

Faculty of Social Science, Oslo University College, Oslo, Norway.

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http://dx.doi.org/10.1002/ajmg.a.35309DOI Listing
June 2012

Obstructive sleep apnea in Treacher Collins syndrome.

Eur Arch Otorhinolaryngol 2012 Jan 29;269(1):331-7. Epub 2011 May 29.

Sleep Unit, Department of Otorhinolaryngology-Head and Neck Surgery, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway.

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http://dx.doi.org/10.1007/s00405-011-1649-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249173PMC
January 2012

Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

Int J Audiol 2010 Aug;49(8):596-605

Department of Otolaryngology, Faculty Division Rikshospitalet, University of Oslo, Norway.

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http://www.tandfonline.com/doi/full/10.3109/1499202100374326
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http://dx.doi.org/10.3109/14992021003743269DOI Listing
August 2010

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

J Cancer Res Clin Oncol 2009 Oct 15;135(10):1463-70. Epub 2009 May 15.

Pathology Division, University Hospital of Oslo-Rikshospitalet, N0027 Oslo, Norway.

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http://dx.doi.org/10.1007/s00432-009-0594-4DOI Listing
October 2009

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Am J Med Genet A 2009 Oct;149A(10):2212-5

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.a.33027DOI Listing
October 2009

Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer.

Fam Cancer 2008 25;7(3):245-54. Epub 2008 Jan 25.

Section for Hereditary Cancer, Department for Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, 0310, Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-008-9182-zDOI Listing
January 2009

Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance.

Ear Hear 2008 Apr;29(2):261-9

Department of Otolaryngology, Faculty Division Rikshospitalet, University of Oslo, Norway.

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http://dx.doi.org/10.1097/aud.0b013e3181645393DOI Listing
April 2008

Germline PTEN mutations are rare and highly penetrant.

Hered Cancer Clin Pract 2006 Dec 15;4(4):177-85. Epub 2006 Dec 15.

Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.

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http://dx.doi.org/10.1186/1897-4287-4-4-177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837306PMC
December 2006

Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation.

Qual Life Res 2006 Apr;15(3):461-70

Section for Genetic Counselling, Department of Cancer Genetics, Rikshospitalet-Radiumhospitalet Trust, 0310, Montebello, Oslo, Norway.

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http://dx.doi.org/10.1007/s11136-005-3008-3DOI Listing
April 2006

[Hereditary endocrine tumour diseases].

Tidsskr Nor Laegeforen 2005 Nov;125(21):2964-7

Endokrinologisk seksjon, Medisinsk avdeling, Haukeland Universitetssjukehus, 5021 Bergen.

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November 2005

Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations.

Fam Cancer 2005 ;4(2):121-6

Section for Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, 0310 Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-004-7995-yDOI Listing
September 2005

Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer.

J Clin Oncol 2005 Jul;23(21):4705-12

Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway.

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http://dx.doi.org/10.1200/JCO.2005.05.180DOI Listing
July 2005

BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample.

Fam Cancer 2004 ;3(1):21-8

Department of Cancer Genetics, The Norwegian Radium Hospital, University of Oslo, Norway.

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http://dx.doi.org/10.1023/B:FAME.0000026820.32469.4aDOI Listing
July 2004

Analysis of testicular cancer data using a frailty model with familial dependence.

Stat Med 2004 Feb;23(4):617-32

Section of Medical Statistics, University of Oslo, Norway.

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http://dx.doi.org/10.1002/sim.1614DOI Listing
February 2004

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours.

Fam Cancer 2003 ;2(1):9-13

Section of Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway.

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December 2003

Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway.

J Genet Couns 2003 Oct;12(5):405-17

Section of Genetic Counseling, Department of Cancer Genetics, The Norwegian Radium Hospital, N-0310 Oslo, Norway.

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October 2003

Oral contraceptives and risk of familial breast cancer.

Cancer Detect Prev 2002 ;26(1):23-7

Unit of Medical Genetics, Norwegian Radium Hospital, University of Oslo.

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January 2003