Lilian Bomme Ousager

Lilian Bomme Ousager

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Lilian Bomme Ousager

Lilian Bomme Ousager

Publications by authors named "Lilian Bomme Ousager"

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28Publications

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Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment.

Int J Pediatr Otorhinolaryngol 2018 May 14;108:208-212. Epub 2018 Mar 14.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183012
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http://dx.doi.org/10.1016/j.ijporl.2018.03.008DOI Listing
May 2018

Pigmentary mosaicism: a review of original literature and recommendations for future handling.

Orphanet J Rare Dis 2018 03 5;13(1):39. Epub 2018 Mar 5.

Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4 , Entrance 142, 5000, Odense C, Denmark.

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http://dx.doi.org/10.1186/s13023-018-0778-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839061PMC
March 2018

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

Mol Genet Genomic Med 2018 01 14;6(1):121-125. Epub 2017 Dec 14.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1002/mgg3.361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823686PMC
January 2018

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

Eur J Med Genet 2017 Feb 16;60(2):110-113. Epub 2016 Nov 16.

Department of Clinical Genetics, Odense University Hospital, Sdr.Boulevard 29, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843366PMC
February 2017

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

Scand J Gastroenterol 2016 Sep 5;51(9):1118-25. Epub 2016 May 5.

a Department of Clinical Genetics , Odense University Hospital , Odense C , Denmark ;

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http://dx.doi.org/10.1080/00365521.2016.1174880DOI Listing
September 2016

Juvenile Polyps in Denmark From 1995 to 2014.

Dis Colon Rectum 2016 Aug;59(8):751-7

1 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark 2 Institute of Clinical Research, University of Southern Denmark, Odense, Denmark 3 Department of Surgery A, Odense University Hospital, Odense, Denmark.

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http://Insights.ovid.com/crossref?an=00003453-201608000-0000
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http://dx.doi.org/10.1097/DCR.0000000000000634DOI Listing
August 2016

Research participants in NGS studies want to know about incidental findings.

Eur J Hum Genet 2015 Oct 21;23(10):1423-6. Epub 2015 Jan 21.

Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.

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http://dx.doi.org/10.1038/ejhg.2014.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592091PMC
October 2015

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

Ugeskr Laeger 2015 Aug;177(32):V12140755

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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August 2015

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.

Microvasc Res 2015 May 16;99:118-26. Epub 2015 Apr 16.

Department of Clinical Genetics, Odense University Hospital, Denmark; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Denmark.

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http://dx.doi.org/10.1016/j.mvr.2015.04.002DOI Listing
May 2015

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

PLoS One 2014 6;9(3):e90272. Epub 2014 Mar 6.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090272PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946172PMC
February 2015

[Early-onset epileptic encephalopathy caused by CDKL5 mutation].

Ugeskr Laeger 2014 Dec;176(25A)

Epilepsihotellet, Dianalund, Kolonivej 1, 4293 Dianalund.

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December 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

Ugeskr Laeger 2014 Oct;176(44)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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October 2014

[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].

Ugeskr Laeger 2014 Oct;176(44)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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October 2014

Hamartomatous polyposis syndromes: a review.

Orphanet J Rare Dis 2014 Jul 15;9:101. Epub 2014 Jul 15.

Department of Clinical Genetics, Odense University Hospital and Institute of Clinical Research, University of Southern Denmark, Sdr, Boulevard 29, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1186/1750-1172-9-101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112971PMC
July 2014

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].

Ugeskr Laeger 2014 Feb;176(7A):V05130280

Klinisk Genetisk Afdeling, Aalborg Universitetshospital, Ladegårdsgade 5, 9000 Aalborg.

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February 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

Ugeskr Laeger 2013 Nov;175(47A)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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November 2013

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia.

Genet Test Mol Biomarkers 2012 Dec 9;16(12):1419-23. Epub 2012 Oct 9.

Department of Clinical Genetics, Odense University Hospital, University of Southern Denmark, Odense C, Denmark.

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http://dx.doi.org/10.1089/gtmb.2012.0230DOI Listing
December 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

[Genetic causes of infantile spasms--a systematic review].

Ugeskr Laeger 2012 Apr;174(17):1152-5

HC Andersen Børnehospital, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense, Denmark.

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April 2012

[Dravet syndrome].

Ugeskr Laeger 2010 Feb;172(8):622-5

Odense Universitetshospital, H.C. Andersen Børnehospital, DK-5000 Odense C, Denmark.

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February 2010

[Dravet syndrome diagnostics].

Ugeskr Laeger 2010 Feb;172(8):626-7

H.C. Andersen Børnehospital, Odense Universitetshospital, DK-5000 Odense C, Denmark.

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February 2010