Klaus Brusgaard

Master of Science, PhD

19942019
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Personal profile

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  • 9 Similar Profiles
Congenital Hyperinsulinism Medicine & Life Sciences
Mutation Medicine & Life Sciences
Hypoglycemia Medicine & Life Sciences
Polycystic Ovary Syndrome Medicine & Life Sciences
Insulin Medicine & Life Sciences
Glucokinase Medicine & Life Sciences
Ketosis Medicine & Life Sciences
Cohort Studies Medicine & Life Sciences

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Research Output 1994 2019

7 Downloads (Pure)

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Samuelsson, S., Elfving, M., Jonson, T., Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., 1. Jan 2019, In : European Journal of Medical Genetics.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Congenital Hyperinsulinism
Uniparental Disomy
Focal Nodular Hyperplasia
Glandular and Epithelial Neoplasms
Liver
151 Downloads (Pure)

18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation

Christiansen, C. D., Petersen, H., Nielsen, A. L., Detlefsen, S., Brusgaard, K., Rasmussen, L., Melikyan, M., Ekström, K., Globa, E., Rasmussen, A. H., Hovendal, C. & Christesen, H. T., Feb 2018, In : European Journal of Nuclear Medicine and Molecular Imaging. 45, 2, p. 250-261

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Congenital Hyperinsulinism
Octreotide
Positron Emission Tomography Computed Tomography
1,4,7,10-tetraazacyclododecane- 1,4,7,10-tetraacetic acid
95 Downloads (Pure)
Open Access
File
Mutation
Bilateral Hearing Loss
Conductive Hearing Loss
DNA Sequence Analysis
X-Rays

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Steenhof, M., Kibæk, M., Larsen, M. J., Christensen, M., Lund, A. M., Brusgaard, K. & Hertz, J. M., Aug 2018, In : Neurogenetics. 19, 3, p. 145–149

Research output: Contribution to journalJournal articleResearchpeer-review

Hereditary Spastic Paraplegia
Amino Acids
Mutation
Ligases
Citrulline
85 Downloads (Pure)

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

Tørring, P. M., Kjeldsen, A. D., Ousager, L. B. & Brusgaard, K., Jan 2018, In : Molecular Genetics & Genomic Medicine. 6, 1, p. 121-125

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Mosaicism
Cheek
Mutation
DNA
Frameshift Mutation

Activities 2006 2016

NGS 2016 Nordic

Klaus Brusgaard (Organizer)
8. Nov 20169. Nov 2016

Activity: Attending an eventConference organisation or participation

NGS 2015 Nordic

Klaus Brusgaard (Organizer)
27. Oct 201528. Oct 2015

Activity: Attending an eventConference organisation or participation

Neonatal high none mass with heterozygous ”de novo” missense mutation i RELA/(RelA/p65)

Anja Lisbeth Frederiksen (Guest lecturer), Martin Jakob Larsen (Guest lecturer), Klaus Brusgaard (Guest lecturer), D. Novack (Guest lecturer), Peter Juel Thiis Knudsen (Guest lecturer), Henrik Daa Schrøder (Guest lecturer), Christina Eckhardt (Guest lecturer), William H McAlister (Guest lecturer), Moustapha Kassem (Guest lecturer), Morten Frost (Guest lecturer), Michael P Whyte (Guest lecturer)
26. Apr 2015

Activity: Talks and presentationsConference presentations

Histological features of the pancreas in a patient with congenital hyperinsulinism due to Beckwith-Wiedemann syndrome

Lene Christensen (Guest lecturer), Henrik Thybo Christesen (Guest lecturer), Klaus Brusgaard (Guest lecturer), Henrik Petersen (Guest lecturer), Lars Rasmussen (Guest lecturer), Claus Hovendal (Guest lecturer)
13. Mar 2015

Activity: Talks and presentationsConference presentations

SciTechnol (Journal)

Klaus Brusgaard (Peer reviewer)
26. Nov 2014

Activity: Editorial work and peer reviewPeer review of manuscriptsResearch

Press / Media

Ny lektor i human genetik

Klaus Brusgaard

12/07/2013

1 item of Media coverage

Press/Media: Press / Media

Ny lektor i human genetik

Klaus Brusgaard

06/07/2013

1 item of Media coverage

Press/Media: Press / Media

Ny lektor i human genetik

Klaus Brusgaard

06/07/2013

1 item of Media coverage

Press/Media: Press / Media

Ny lektor i human genetik

Klaus Brusgaard

06/07/2013

1 item of Media coverage

Press/Media: Press / Media