Videnskabelig årsrapport 2005 - Rigshospitalet

Juliane Marie Centret
study. Int J Epidemiol
2005;34(4):931-5.
Stoevring B, Jaliashvili I, Thougaard AV,
Ensinger C, Hogdall CK, Rasmussen
LS, et al. Tetranectin in cerebrospinal
fluid: biochemical characterisation
and evidence of intrathecal synthesis
or selective uptake into CSF. Clin
Chim Acta 2005;359(1-2):65-71.
Utzon J, Hansen CC, Andreasen J,
Ottesen BS. [The Danish
Hysterectomy Database seen from a
public health-economic perspective].
Ugeskr Laeger 2005;167(34):3170-4.
Wagner L, Carlslund AM, Sorensen M,
Ottesen B. Women's experiences with
short admission in abdominal
hysterectomy and their patterns of
behaviour. Scand J Caring Sci
2005;19(4):330-6.
West-Nielsen M, Hogdall EV, Marchiori
E, Hogdall CK, Schou C, Heegaard
NH. Sample handling for mass
spectrometric proteomic
investigations of human sera. Anal
Chem 2005;77(16):5114-23.
Klinisk Genetisk
Afdeling
Videnskabeligt personale
Seniorforskere
Afdelingslæge Mette Klarskov Andersen
Overlæge, dr.med. Thue Bryndorf
Laboratorieleder, civilingeniør Ernst
Christensen
Cand.scient. Mette Christensen
Cand.scient. Debes Christiansen
Cand.scient., ph.d. Morten Dunø
Civilingeniør Tommy Gerdes
Afdelingslæge, dr.med. Hanne Hove
Cand.scient., dr.med. Maria Kirchhoff
Professor, dr.odont. Sven Kreiborg
Overlæge, dr.med. Allan Meldgaard Lund
Afdelingslæge, dr.med. Peter Steen
Pedersen
Overlæge, dr.med. Jens Pedersen-
Bjergaard
Professor, laboratorieleder, lic.scient.
Marianne Schwartz
Professor, overlæge, dr.med. Flemming
Skovby
Cand.scient., ph.d. Flemming Wibrand
Læge, ph.d. Elsebet Østergaard
Ph.d.-studerende
Læge Susanne G. Lindquist
Læge Anne-Marie Bisgaard Pedersen
Cand.scient. Kirstine Ravn
Øvrigt forskningspersonale
Bioanalytiker Mustafa Batbayli
Bioanalytiker Claire Beier-Holten
Bioanalytiker Lene Lykke-Hansen
Bioanalytiker Lis Vendelbjerg
Vigtigste satsningsområder
inden for forskningen
Molekylærgenetisk diagnostik og
patofysiologi.
Diagnostik, patofysiologi og behandling
af medfødte stofskiftesygdomme.
Mitokondriesygdomme.
Prænatal diagnostik.
Onkogenetik.
Molekylær cytogenetik.
Hæmatologisk-onkologisk cytogenetik
ved akutte leukæmier.
Iontransport i luftvejenes overfladeepithel
og kirtler.
Kraniofaciale misdannelser.
Publikationer
Disputatser og ph.d.-afhandlinger
forsvaret i året
Ravn, K. Molecular genetic investigations
of Rett syndrome (ph.d.-afhandling).
København: Eget forlag; 2005:1-62.
Forsvaret den 8/12 2005 ved
Københavns Universitet, Det
Sundhedsvidenskabelige Fakultet.
Videnskabelige artikler
A. Førsteforfatter fra
forskningsenheden
Andersen MK, Christiansen DH,
Pedersen-Bjergaard J. Amplification
or duplication of chromosome band
21q22 with multiple copies of the
AML1 gene and mutation of the
TP53 gene in therapy-related MDS
and AML. Leukemia 2005;19(2):197-
200.
Andersen MK, Christiansen DH,
Pedersen-Bjergaard J. Centromeric
breakage and highly rearranged
chromosome derivatives associated
with mutations of TP53 are common
in therapy-related MDS and AML
after therapy with alkylating agents:
an M-FISH study. Genes
Chromosomes Cancer
2005;42(4):358-71.
Christiansen DH, Andersen MK, Desta F,
Pedersen-Bjergaard J. Mutations of
genes in the receptor tyrosine kinase
(RTK)/RAS-BRAF signal
transduction pathway in therapyrelated
myelodysplasia and acute
myeloid leukemia. Leukemia
2005;19(12):2232-40.
Duno M, Colding-Jørgensen E. Myotonia
Congenita. 2005.
www.genetests.org/profiles/myotonia
-c
Gerdes T, Kirchhoff M, Lind AM, Larsen
GV, Schwartz M, Lundsteen C.
Computer-assisted prenatal
aneuploidy screening for
chromosome 13, 18, 21, X and Y
based on multiplex ligationdependent
probe amplification
(MLPA). Eur J Hum Genet
2005;13(2):171-5.
Gerdes T, Kirchhoff M, Bryndorf T.
Automatic analysis of multiplex
ligation-dependent probe
amplification products (exemplified
by a commercial kit for prenatal
aneuploidy detection).
Electrophoresis 2005;26(22):4327-
32.
Kirchhoff M, Gerdes T, Brunebjerg S,
Bryndorf T. Investigation of patients
with mental retardation and
dysmorphic features using
comparative genomic hybridization
and subtelomeric multiplex ligation
dependent probe amplification. Am J
Med Genet A 2005;139(3):231-3.
Kreiborg S, Hermann NV, Darvann T.
Characteristics of facial growth and
development in children with clefts.
In: Samuel Berkowitz, ed. Cleft Lip
and Palate with an Introduction to
other Craniofacial Anomalies.
Perspectives in Management. Berlin:
Springer Verlag; 2005:224-35.
Melchior L, Schwartz M, Duno M.
dHPLC screening of the NSD1 gene
identifies nine novel mutations--
summary of the first 100 Sotos
syndrome mutations. Ann Hum
Genet 2005;69(Pt 2):222-6.
Pedersen-Bjergaard J. Insights into
leukemogenesis from therapy-related
leukemia. N Engl J Med
2005;352(15):1591-4.
Pedersen PS, Procida K, Larsen PL,
Holstein-Rathlou NH, Frederiksen O.
Water permeability in human airway
epithelium. Pflugers Arch
2005;451(3):464-73.
Ravn K, Nielsen JB, Skjeldal OH, Kerr A,
Hulten M, Schwartz M. Large
genomic rearrangements in MECP2.
Hum Mutat 2005;25(3):324.
Ravn K, Nielsen JB, Schwartz M.
Mutations found within exon 1 of
MECP2 in Danish patients with Rett
syndrome. Clin Genet
2005;67(6):532-3.
Ripa RS, Katballe N, Wikman FP, Jager
AC, Bernstein I, Orntoft T, et al.
Presymptomatic diagnosis using a
deletion of a single codon in families
with hereditary non-polyposis
colorectal cancer. Mutat Res
2005;570(1):89-96.
Schwartz M, Duno M. Multiplex ligationdependent
probe amplification is
superior for detecting
deletions/duplications in Duchenne
muscular dystrophy. Clin Genet
2005;67(2):189-91.
Schwartz M, Hertz JM, Sveen ML,
Vissing J. LGMD2I presenting with a
characteristic Duchenne or Becker
muscular dystrophy phenotype.
Neurology 2005;64(9):1635-7.
Schwartz M. [The molecular-genetic
background of spinal muscular
atrophy. Diagnosis, prognosis and
future treatment]. Ugeskr Laeger
2005;167(7):745-8.
B. Medforfatter fra forskningsenheden
Bakke M, Moller E, Werdelin LM,
Dalager T, Kitai N, Kreiborg S.
Treatment of severe
temporomandibular joint clicking
with botulinum toxin in the lateral
pterygoid muscle in two cases of
anterior disc displacement. Oral Surg
Oral Med Oral Pathol Oral Radiol
Endod 2005;100(6):693-700.
Barber JC, Thomas NS, Collinson MN,
Dennis NR, Liehr T, Weise A, et al.
Segmental haplosufficiency:
transmitted deletions of 2p12 include
a pancreatic regeneration gene cluster
and have no apparent phenotypic
consequences. Eur J Hum Genet
2005;13(3):283-91.
Charman T, Neilson TC, Mash V, Archer
H, Gardiner MT, Knudsen GP, et al.
Videnskabelig årsrapport 51