Sundhedsvidenskabelig Forskning ved Aarhus - Institutleder til ...

KLINISK GENETISK AFDELING, ÅRHUS UNIVERSITETSHOSPITAL, ÅRHUS SYGEHUS
• Afd. deltager i internationale multicenterundersøgelser
af modyfier-gener i forhold til HNPCC
(MOMA-studiet) og HBOC (CIMBA).
• Afd. deltager i et nationalt studie af effekten af
MR-mammografi hos kvinder disponerede for c.
mammae på grund af mutation i BRCA1 eller -2.
• Herudover bidrager afdelingen til diverse mere
langsigtede projekter ved at indberette data
angående familier med arvelig disposition diverse
former for kræft til de respektive nationale
registre, hvorfra der siden kan trækkes data til
forskellige projekter.
• Tilsvarende danner KGA’s indberetning til Cytogenetisk
Centralregister baggrund for diverse
forskningsprojekter angående cytogenetik
• Medarbejdere ved KGA deltager i Roots of
Europe - Language, Culture, and Migrations, der
er et tværfagligt forskningscenter, der involverer
forskere i indoeuropæisk sprogvidenskab, arkæologi,
genetik og religionsvidenskab. Centret
finansieres gennem Københavns Universitets
stjernebevillinger og hører under Institut for
Nordiske Studier og Sprogvidenskab.
Publikationer
Forskning
Artikel, peer-reviewed
Berg, RS, Aggerholm, A, Bertelsen, LS, Østergaard, L
& Paludan, SR 2009, ‘Role of mitogen-activated
protein kinases, nuclear factor-kappaB, and
interferon regulatory factor 3 in Toll-like receptor
4-mediated activation of HIV long terminal repeat’,
Acta Pathologica Microbiologica et Immunologica
Scandinavica, vol. 117, nr. 2, s. 124-32.
Bjørn, AB, Bojesen, A, Gravholt, CH & Laurberg, P
2009, ‘Hypothyroidism secondary to hypothalamic-pituitary
dysfunction may be part of the
phenotype in Klinefelter syndrome: A case control
study’, Journal of Clinical Endocrinology and Metabolism,
vol. 94, nr. 7, s. 2478-2481.
Christensen, LL, Kariola, R, K Korhonen, M, Wikman,
F, Sunde, LEM, Gerdes, A, Okkels, H, A Brandt, C,
Bernstein, I, v O Hansen, T, Hagemann-Madsen,
R, Andersen, CL, Nystrøm, M & Ørntoft, TF 2009,
‘Functional chracterization of rare missense
mutations in MLH1 and MSH2 identified in Danish
colorectal cancer patients’, Familial Cancer, vol. 8,
nr. 4, s. 489-500.
Hertz, JM 2009, ‘Alport syndrome. Molecular genetic
aspects’, Danish Medical Bulletin, vol. 56, nr. 3, s.
105-52.
Jakobsen, MR, Aggerholm, A, Jørgensen, LB, Laursen,
A & Østergaard, LJ 2009, ‘Pre-screening HIV-1
reverse transcriptase resistance mutations in
subtype B patients using a novel multiplex primer
extension assay’, Current HIV Research, vol. 7, nr. 4,
s. 398-409.
Lautrup, CK, Kjærgaard, S, Brøndum-Nielsen, K, Fagerberg,
C, Hertz, JM, Petersen, OB, Jørgensen, MW
& Vogel, I 2008, ‘Testing for 22q11 microdeletion
in 146 fetuses with nuchal translucency above the
99th percentile and a normal karyotype.’, Acta
Obstetricia et Gynecologica Scandinavica, vol. 87,
nr. 11, s. 1252-1255.
Nilbert, M, Wikman, FP, Hansen, TVO, Krarup, HB, Örntoft,
TF, Nielsen, FC, Sunde, L, Gerdes, A, Cruger,
D, Timshel, S, Bisgaard, M, Bernstein, I & Okkels, H
2009, ‘Major contribution from recurrent alterations
and MSH6 mutations in the Danish Lynch
syndrome population’, Familial Cancer, vol. 8, nr. 1,
s. 75-83.
Sandager, P, Uldbjerg, N, Henriksen, TB, Goldsmith,
LT, Thorsen, P, Weiss, G & Vogel, I 2009, ‘Circulating
relaxin and cervical length in midpregnancy
are independently associated with spontaneous
preterm birth’, American Journal of Obstetrics and
Gynecology, vol. 201, nr. 2, s. 169.e1-6.
Vogel, I, Lyngbye, T, Nielsen, A, Pedersen, S & Hertz,
JM 2009, ‘Pallister-Killian syndrome in a girl with
mild developmental delay and mosaicism for hexasomy
12p’, American Journal of Medical Genetics.
Part A, vol. 149A, nr. 3, s. 510-4.
Vogel, I, Hollegaard, MV, Hougaard, DM, Thorsen, P
& Grove, J 2009, ‘Polymorphisms in the promoter
region of relaxin-2 and preterm birth: involvement
of relaxin in the etiology of preterm birth’, In Vivo,
vol. 23, nr. 6, s. 1005-9.
Zangenberg, M, Grubach, L, Aggerholm, A, Silkjaer,
T, Juhl-Christensen, C, Nyvold, CG, Kjeldsen, E,
Ommen, HB & Hokland, P 2009, ‘The combined
expression of HOXA4 and MEIS1 is an independent
prognostic factor in patients with AML’, European
Journal of Haematology, vol. 83, nr. 5, s. 439-48.
150 Sundhedsvidenskabelig Forskning ved Aarhus Universitet og Århus Universitetshospital 2009