Videnskabelig Ã¥rsrapport 2005 - Rigshospitalet

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Juliane Marie Centret Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres. Hum Reprod 2005;20(4):1072-7. Arce JC, Nyboe AA, Collins J. Resolving methodological and clinical issues in the design of efficacy trials in assisted reproductive technologies: a mini-review. Hum Reprod 2005;20(7):1757-71. Bonduelle M, Wennerholm UB, Loft A, Tarlatzis BC, Peters C, Henriet S, et al. A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception. Hum Reprod 2005;20(2):413-9. Hjollund NH, Bonde JP, Ernst E, Lindenberg S, Andersen AN, Olsen J. Spontaneous abortion in IVF couples- -a role of male welding exposure. Hum Reprod 2005;20(7):1793-7. Hviid TV, Christiansen OB. Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease. Hum Immunol 2005;66(6):688-99. Ingerslev HJ, Poilsen P, Kesmodel U, Højgaard A, Pinborg A, Henriksen TB, et al. Should one or two embryos be transferred in IVF? - a health technology asessment. Danish Health Technology Assessment 2005;7(2). Lidegaard O, Pinborg A, Andersen AN. Imprinting diseases and IVF: Danish National IVF cohort study. Hum Reprod 2005;20(4):950-4. Ponjaert-Kristoffersen I, Bonduelle M, Barnes J, Nekkebroeck J, Loft A, Wennerholm UB, et al. International collaborative study of intracytoplasmic sperm injectionconceived, in vitro fertilizationconceived, and naturally conceived 5- year-old child outcomes: cognitive and motor assessments. Pediatrics 2005;115(3):e283-9. Strandell A, Lindhard A, Eckerlund I. Cost--effectiveness analysis of salpingectomy prior to IVF, based on a randomized controlled trial. Hum Reprod 2005;20(12):3284-92. Sutcliffe AG, Barnes J, Wennerholm UB, Loft A, Tarlatzis BC, Ponjaert- Kristoferson I, et al. Laterality in five-year-olds conceived by intracytoplasmic sperm injection, standard in vitro fertilisation and natural conception: a European study. BJOG 2005;112(10):1397-401. Thurin A, Hardarson T, Hausken J, Jablonowska B, Lundin K, Pinborg A, et al. Predictors of ongoing implantation in IVF in a good prognosis group of patients. Hum Reprod 2005;20(7):1876-80. Gynækologisk Klinik Videnskabeligt personale Seniorforskere Afdelingslæge, ph.d. Ivan Abel Afdelingslæge Dorthe Hartwell Klinisk forskningslektor, overlæge, dr.med. Claus Høgdall Professor, overlæge, dr. med. Susanne Krüger Kjær Overlæge Jens Knudsen Klinikchef, overlæge Lene Lundvall Overlæge, ph.d. Lars Mikael Alling Møller Centerdirektør, professor, dr. med. Bent Ottesen Overlæge Christian Ottosen Overlæge, ph.d., post.doc. stipendiat Anette Tønnes Pedersen Overlæge Katrine Sidenius Afdelingslæge Lian Ulrich Ph.d.-studerende Cand.pharm. Farah D. Begum Cand.med. Astrid Bøgh Cand.med. Charlotte Marx Cand.med. Sisse Njor Cand.med. Anette Lykke Petri Cand.psych. Annalise Rust Cand.med. Signe Risum Cand.scient. Mikkel West-Nielsen Andre forskere Cand.med. Bo Grønlund Cand.scient.san.publ. Kirstine Magtengaard Vigtigste satsningsområder inden for forskningen Gynækologisk onkologi. Ovariecancer. Cervix- og collumcancer. Endometriecancer. Tumormarkører. Medicinske, psykologiske og sociale aspekter af seksuelle overgreb. Ovariel dysfunktion, premature ovarian failure. Menopause, hormonbehandling og risiko for hjerte-kar sygdomme samt brystkræft. Endometriose. HPV. Publikationer Disputatser og ph.d.-afhandlinger forsvaret i året Stahlberg C. Breast cancer and hormone replacement therapy - a Scandinavian approach (ph.d.-afhandling). København: Eget forlag;2005:1-54. Forsvaret den 27/5 2005 ved Københavns Universitet, Det Sundhedsvidenskabelige Fakultet. Videnskabelige artikler A. Førsteforfatter fra forskningsenheden Hilden M, Schei B, Sidenius K. Genitoanal injury in adult female victims of sexal assault. Forensic Sci Int 2005;154(2-3):200-5. Pedersen AT, Skouby SO. Klimakteriet og menopausen. In: Ottesen B, Forman A, Mogensen O, eds. Gynækologi. København: Munksgaard Danmark; 2005:184- 195. Petri AL, Watt-Boolsen S, Damkier P. [Terbinafine-induced hyperamylasaemia]. Ugeskr Laeger 2005;167(11):1300-1. B. Medforfatter fra forskningsenheden Auranen A, Song H, Waterfall C, Dicioccio RA, Kuschel B, Kjaer SK, et al. Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int J Cancer 2005;117(4):611-8. Bojesen SE, Kjaer SK, Hogdall EV, Thomsen BL, Hogdall CK, Blaakaer J, et al. Increased risk of ovarian cancer in integrin beta3 Leu33Pro homozygotes. Endocr Relat Cancer 2005;12(4):945-52. Gimbel H, Zobbe V, Andersen BJ, Sorensen HC, Toftager-Larsen K, Sidenius K, et al. Lower urinary tract symptoms after total and subtotal hysterectomy: results of a randomized controlled trial. Int Urogynecol J Pelvic Floor Dysfunct 2005;16(4):257-62. Gimbel H, Zobbe V, Andersen BM, Gluud C, Ottesen BS, Tabor A. Total versus subtotal hysterectomy: an observational study with one-year follow-up. Aust N Z J Obstet Gynaecol 2005;45(1):64-7. Gronlund B, Dehn H, Hogdall CK, Engelholm SA, Jorgensen M, Norgaard-Pedersen B, et al. Cancerassociated serum antigen level: a novel prognostic indicator for survival in patients with recurrent ovarian carcinoma. Int J Gynecol Cancer 2005;15(5):836-43. Gronlund B, Christensen IJ, Bulow- Lehnsby AL, Engelholm SA, Hansen HH, Hogdall C. Recurrent epithelial ovarian cancer: validation and improvement of an established prognostic index. Eur J Obstet Gynecol Reprod Biol 2005;123(1):98-106. Gronlund B, Lundvall L, Christensen IJ, Knudsen JB, Hogdall C. Surgical cytoreduction in recurrent ovarian carcinoma in patients with complete response to paclitaxel-platinum. Eur J Surg Oncol 2005;31(1):67-73. Laigaard J, Sorensen T, Placing S, Holck P, Frohlich C, Wojdemann KR, et al. Reduction of the disintegrin and metalloprotease ADAM12 in preeclampsia. Obstet Gynecol 2005;106(1):144-9. Laigaard J, Christiansen M, Frohlich C, Pedersen BN, Ottesen B, Wewer UM. The level of ADAM12-S in maternal serum is an early first-trimester marker of fetal trisomy 18. Prenat Diagn 2005;25(1):45-6. Stahlberg C, Lynge E, Andersen ZJ, Keiding N, Ottesen B, Rank F, et al. Breast cancer incidence, case-fatality and breast cancer mortality in Danish women using hormone replacement therapy--a prospective observational 50 Videnskabelig årsrappport
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
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05 Videnskabelig årsrapport Køben
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Forord Rigshospitalet er Danmarks a
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hans forskerteam, som i 2005 talte
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- Vi arbejder meget sammen og lære
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London København Berlin Elisabeth
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Patienter med en sjælden kronisk m
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Boston Tromsø Edinburgh Århus Syd
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Børn fra hele Norden, der rammes a
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Figur 1 Eksterne forskningsmidler f
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Forskningskommunikationsprisen 2005
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