Videnskabelig årsrapport 2005 - Rigshospitalet

Juliane Marie Centret
Dimensional phenotypic analysis and
functional categorisation of mutations
reveal novel genotype-phenotype
associations in Rett syndrome. Eur J
Hum Genet 2005;13(10):1121-30.
Dufva IH, Karle H, Brondum-Nielsen K,
Andersen MK, Madsen HO, Johnsen
HE. Chronic myeloid leukaemia with
BCR-ABL fusion genes located to
both chromosomes 9, cyclic
leukocytosis and nodal T-
lymphoblastic transformation--
durable complete remission following
imatinib therapy. Leukemia
2005;19(4):671-3.
Evans JC, Archer HL, Colley JP, Ravn K,
Nielsen JB, Kerr A, et al. Early onset
seizures and Rett-like features
associated with mutations in CDKL5.
Eur J Hum Genet 2005;13(10):1113-
20.
Fornari D, Steven K, Hansen AB, Vibits
H, Jepsen JV, Poulsen AL, et al.
Under-representation of bladder
transitional cell tumour 9q, 11p and
14q LOH in urine and impact on
molecular diagnosis. Anticancer Res
2005;25(6B):4049-52.
Jensen ML, Kirchhoff M. Polydactyly in a
boy with Smith-Magenis syndrome.
Clin Dysmorphol 2005;14(4):189-90.
Kleta R, Kaskel F, Dohil R, Goodyer P,
Guay-Woodford LM, Harms E, et al.
First NIH/Office of Rare Diseases
Conference on Cystinosis: past,
present, and future. Pediatr Nephrol
2005;20(4):452-4.
Krarup S, Darvann TA, Larsen P, Marsh
JL, Kreiborg S. Three-dimensional
analysis of mandibular growth and
tooth eruption. J Anat
2005;207(5):669-82.
Lindquist SG, Kirchhoff M, Lundsteen C,
Pedersen W, Erichsen G, Kristensen
K, et al. Further delineation of the
22q13 deletion syndrome. Clin
Dysmorphol 2005;14(2):55-60.
Morel CF, Scott P, Christensen E,
Rosenblatt DS, Rozen R. Prenatal
diagnosis for severe
methylenetetrahydrofolate reductase
deficiency by linkage analysis and
enzymatic assay. Mol Genet Metab
2005;85(2):115-20.
Olsen RK, Andresen BS, Christensen E,
Mandel H, Skovby F, Nielsen JP, et
al. DNA-based prenatal diagnosis for
severe and variant forms of multiple
acyl-CoA dehydrogenation
deficiency. Prenat Diagn
2005;25(1):60-4.
Orngreen MC, Duno M, Ejstrup R,
Christensen E, Schwartz M, Sacchetti
M, et al. Fuel utilization in subjects
with carnitine palmitoyltransferase 2
gene mutations. Ann Neurol
2005;57(1):60-6.
Ostergaard E, Bradinova I, Ravn SH,
Hansen FJ, Simeonov E, Christensen
E, et al. Hypertrichosis in patients
with SURF1 mutations. Am J Med
Genet A 2005;138(4):384-8.
Rendtorff ND, Bjerregaard B, Frodin M,
Kjaergaard S, Hove H, Skovby F, et
al. Analysis of 65 tuberous sclerosis
complex (TSC) patients by TSC2
DGGE, TSC1/TSC2 MLPA, and
TSC1 long-range PCR sequencing,
and report of 28 novel mutations.
Hum Mutat 2005;26(4):374-83.
Sogaard M, Tumer Z, Hjalgrim H,
Hahnemann J, Friis B, Ledaal P, et al.
Subtelomeric study of 132 patients
with mental retardation reveals 9
chromosomal anomalies and
contributes to the delineation of
submicroscopic deletions of 1pter,
2qter, 4pter, 5qter and 9qter. BMC
Med Genet 2005;6:21.
Neonatalklinikken
Videnskabeligt personale
Seniorforskere
Professor, dr.med. Gorm Greisen.
Ph.d.-studerende
Line Carøe Sørensen
Signe Vielwerth
Andre forskere
Susan Bodé
Marainne Dahl
Christian Heiring
Steen Hertel
Thorkild Jacobsen
Finn Jonsbo
Anja Klamer
Ane Lando
Rene Mathiasen
Jes Reinholdt
Jesper Steensberg
Studenterforskere
Anne Mette Plomgaard
Vigtigste satsningsområder
inden for forskningen
Perinatal hjerneskade.
Senfølger til for tidlig fødsel.
Intrauterin væksthæmning og
programmeringshypotesen.
Publikationer
Videnskabelige artikler
A Førsteforfatter fra
forskningsenheden
Greisen G. Cerebral near infrared
spectroscopy. A useful tool for
developmental care research? In:
Sizun J BJ, ed. Research on early
developmental care for preterm
neonates. Paris: John Lippey;
2005:109-14.
Greisen G. Is it necessary to prove that
developmental care is beneficial? In:
Sizun J, Browne JV, eds. Research on
early developmental care for preterm
neonates. Paris: John LIppey;
2005:115-8.
Greisen G. Autoregulation of cerebral
blood flow in newborn babies. Early
Hum Dev 2005;81(5):423-8.
Jacobsen T, Greisen G. Green amniotic
fluid--should suction be used? Ugeskr
Laeger 2005;167(9):1050-1.
Klamer A, Lando A, Pinborg A, Greisen
G. Ages and Stages Questionnaire
used to measure cognitive deficit in
children born extremely preterm.
Acta Paediatr 2005;94(9):1327-9.
Lando A, Klamer A, Jonsbo F, Weiss J,
Greisen G. Developmental delay at
12 months in children born extremely
preterm. Acta Paediatr
2005;94(11):1604-7.
Lando A, Klamer A, Jonsbo F, Weiss J,
Greisen G. Doxapram and
developmental delay at 12 months in
children born extremely preterm.
Acta Paediatr 2005;94(11):1680-1.
Mai D, Wagner L. Home early program,
experience of parents to premature
infants one year after discharge. Vård
i Norden 2005;25(75):60-3.
Pryds A, Tonnesen J, Pryds O, Knudsen
GM, Greisen G. Cerebral pressure
autoregulation and vasoreactivity in
the newborn rat. Pediatr Res
2005;57(2):294-8.
B. Medforfatter fra forskningsenheden
Ebbesen F, Andersson C, Verder H,
Grytter C, Pdersen-Bjergaard L,
Petersen JR, et al. Extreme
hyperbilirubinaemia in term and nearterm
infants in Denmark. Acta
Paediatr 2006;2005(1):59-64.
Nielsen PE, Poulsen S, Johansen HK,
Greisen G. Mycoplasma hominis
meningitis in a premature baby with
hydrocephalus. Ugeskr Laeger
2005;167(22):2416-7.
Pinborg A, Loft A, Schmidt L, Greisen G,
Rasmussen S, Andersen AN.
Neurological late sequelae in twins
born after in vitro fertilisation--
secondary publication. A national
cohort study. Ugeskr Laeger
2005;167(33):3051-4.
Obstetrisk Klinik
Videnskabeligt personale
Seniorforskere
Afdelingslæge, ph.d. Thomas Bergholt
Overlæge, dr.med. Peter Damm
Klinikchef, ph.d. Morten Hedegaard
Afdelingslæge Ellinor Hellmuth
Afdelingelæge, ph.d. Marianne Johansen
Overlæge, dr.med. Jens Langhoff-Roos
Afdelingslæge, stud. MHPE Jette Led
Sørensen
Afdelingslæge, ph.d. Tine Tetzschner
Ph.d.-studerende
Læge Bettina Breitowitz
Læge Tine Dalsgaard Clausen
Jordemoder Hanne Hegaard
Jordenmoder Hanne Kjærgaard
Læge Lone Krebs
Jordemoder Maja Laursen
Andre forskere
Læge Anne Lene Bülow-Lehnsby
Klinisk sygeplejespeicalist Edna Stage
Studenterforskere
Stud.med., scholarstipendiat Karen Green
Halse
52 Videnskabelig årsrappport