Mette Gaustadnes

Mette Gaustadnes

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Mette Gaustadnes

Mette Gaustadnes

Publications by authors named "Mette Gaustadnes"

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22Publications

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Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.

J Surg Oncol 2019 May 15;119(6):687-693. Epub 2019 Jan 15.

Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.

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http://doi.wiley.com/10.1002/jso.25371
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http://dx.doi.org/10.1002/jso.25371DOI Listing
May 2019

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Genet Med 2017 07 1;19(7):772-777. Epub 2016 Dec 1.

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1038/gim.2016.181DOI Listing
July 2017

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.

Mol Genet Metab 2016 Mar 23;117(3):344-50. Epub 2015 Dec 23.

Centre for Haemophilia and Thrombosis, Department of Clinical Biochemistry Aarhus University Hospital, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.12.010DOI Listing
March 2016

Difficulties in diagnosing Marfan syndrome using current FBN1 databases.

Genet Med 2016 Jan 26;18(1):98-102. Epub 2015 Mar 26.

Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1038/gim.2015.32DOI Listing
January 2016

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Orphanet J Rare Dis 2015 Dec 2;10:153. Epub 2015 Dec 2.

Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.

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http://dx.doi.org/10.1186/s13023-015-0369-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668669PMC
December 2015

[Genetic screening for mutations enables early diagnosis of pituitary adenomas].

Ugeskr Laeger 2014 01;176(1):54-7

Medicinsk Endokrinologisk Afdeling, Aarhus Universitetshospital, Nørrebrogade 44, 8000 Aarhus C.

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January 2014

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Mol Genet Metab 2010 Jan;99(1):1-3

Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2009.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795104PMC
January 2010

Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.

Mol Cell Proteomics 2008 Jul 18;7(7):1214-24. Epub 2008 Mar 18.

Molecular Diagnostic Laboratory, Department of Clinical Biochemistry, Aarhus University Hospital, Skejby, DK-8200 Aarhus N, Denmark.

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http://dx.doi.org/10.1074/mcp.M700590-MCP200DOI Listing
July 2008

Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs.

Hum Mutat 2006 Feb;27(2):187-94

Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1002/humu.20248DOI Listing
February 2006

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Hum Mutat 2002 Aug;20(2):117-26

Cardiovascular Genetics Laboratory, Prince of Wales Hospital, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.10104DOI Listing
August 2002