2005

Lees voor

Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype.
Lichtenbeld KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA.
Am. J. Med Genet A 2005 Jan 1;132A(1):93-100
Efficacy and tolerability of the new antiepileptic drugs I: treatment of new onset epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American
C.P. Panayiotopoulos, Selim R. Benbadis, Athanasios Covanis, Olivier Dulac, John S. Duncan, Orvar Eeg-Olofsson, Colin D. Ferrie, Richard A. Grunewald, Dorothee G.A. Kasteleijn-Nolst Trenite, Michael Koutroumanidis, Zarko Martinovic, Richard W. Newton, Alasdair P. Parker
Academy of Neurology and the American Epilepsy Society.
Neurology. 2005 Jan 11;64(1):172-4; author reply 172-4
The electroencephalogram in aviation medical screening: introduction.
Zifkin BG, Kasteleijn-Nolst Trenite D, Roodenburg A
Epilepsy Behav. 2005 Feb;6(1):15-6.
Intermittent photic stimulation as an activation method for electroencephalographic screening of aircrew applicants.
Kasteleijn-Nolst Trenite DG
Epilepsy Behav. 2005 Feb;6(1):21-6
The impact of subclinical epileptiform discharges on complex tasks and cognition: relevance for aircrew and air traffic controllers.
Kasteleijn-Nolst Trenite DG, Vermeiren R
Epilepsy Behav. 2005 Feb;6(1):31-4.
Complex cardiac defect with hypoplastic right ventricle in a fetus with valproate exposure.
ten Berg K, Van Oppen ACC, Nikkels PGJ, Gittenberger-de Groot , AC, van der Voet GB, Brilstra EH, Lindhout D.
Prenat Diagn 2005;25:156-158.
Classification of BRCA1 missense variants of unknown clinical significance.
Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, Caldes T, de La Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN.
J Med Genet. 2005 Feb;42(2):138-46.
Rapid detection of VHL exon deletions using real-time quantitative PCR.
Hoebeeck J, van der Luijt R, Poppe B, De Smet E, Yigit N, Claes K, Zewald R, de Jong GJ, De Paepe A, Speleman F, Vandesompele.J.
Lab Invest. 2005 Jan;85(1):24-33.
Counselling in multiple endocrine neoplasia syndromes: from individual experience to general guidelines.
Lips CJ, Hoppener JW, Van Nesselrooij BP, Van der Luijt RB.
J Intern Med. 2005 Jan;257(1):69-77.
Genetic risk estimation by healthcare professionals.
Benno Bonke, Aad Tibben, Dick Lindhout, Angus J Clarke and Theo Stijnen.
The Medical Journal of Australia 2005; 182 (3):116-118
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences.
de Pater JM, Kroes HY, Verschuren M, van Oppen AC, Albrechts JC, Engelen JJ.
Prenat Diagn. 2005 Feb 11;25(2):151-155
Genetics of intracranial aneurysms.
Ruigrok YM, Rinkel GJ, Wijmenga C.
Lancet Neurol. 2005 Mar;4(3):179-89.
Genes and outcome after aneurysmal subarachnoid haemorrhage.
Ruigrok YM, Slooter AJ, Bardoel A, Frijns CJ, Rinkel GJ, Wijmenga C.
J Neurol. 2005 Feb 23
Levetiracetam use and pregnancy outcome.
ten Berg K, Samrén EB, Van Oppen ACC, Engelsman M, Lindhout D.
Reprod Toxicol 2005;20:175–178.
Early Recognition of Basal Cell Nevus Syndrome.
HE Veenstra-Knol, JH Scheewe, GJ van der Vlist, ME van Doorn, MGEM Ausems.
Eur J Pediatr 2005;164:126-130.
Schokkende bevindingen: de proefpersoon niet altijd informeren over onderzoeksuitslagen.
H.Y.Kroes
Tijdschrift Medisch Contact, 9 juni 2005
Mitochondrial dysfunction in a patient with joubert syndrome
Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA.
Neuropediatrics. 2005 Jun;36(3):214-7.
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation.
Baars MJH, Scherpbier AJJA, Schuwirth LW, Henneman L, Beemer FA, Cobben JM, Hennekam RCM, Verweij MMJJ, Cornel MC, Ten Kate LP.
Genetics in Medicine 2005;7:295-301
Genetics in coeliac disease. (review).
Van Heel DA, Hunt K, Greco L, Wijmenga C. (2005).
Best Pract Res Clin Gastroenterol. 19:323-339
Gene expression profiling and phenotype analysis of S.cerevisiae in response to changing copper.
Van Bakel H, Strengman E, , Wijmenga C,Holstege FCP (2005).
Physiol Genomics
No genetic association of the human prolyl endopeptidase gene found in the Dutch celiac disease population.
Diosdado B, Stepniak DT, Monsuur AJ, Franke L, Wapenaar MC, Mearin ML, Koning F, Wijmenga C.
Am J Physiol Gastrointest Liver Physiol,2005
A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients.
CC Wárlám-Rodenhuis, VCM Koot, RB van der Luijt, HFA Vasen, MGEM Ausems.
Eur J Cancer 2005; 41: 1409-1415
Selective chromosome analysis in couples with two or more miscarriages: case-control study.
Maureen T.M. Franssen, Johanna C. Korevaar, Nico J Leschot, Patrick MM Bossuyt, Alida C. Knegt, Klasien BJ Gerssen-Schoorl, Cokkie H Wouters, Kerstin BM Hansson, Ron Hochstenbach, Kamlesh Madan, Fulco van der Veen, Mariette Goddijn.
BMJ 28 june 20005 pag 1 ev
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadinanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RCM, Lopez-Otin C, Badens C, Levy N.
Hum Mol Genet 2005;14:1503-1513
Risk factors for visual-motor integration and intelligence in children with craniofacial anomalies
Okkerse JME, Beemer FA, Mellenbergh GJ, Wolters WH, Heineman-de Boer JA
J Craniofacial Surg 2005;16:517-524
No genetic association of the human prolyl endopeptidase gene in the Dutch celiac disease population.
Begoña Diosdado, Dariusz T. Stepniak, Alienke J. Monsuur, Lude Franke, Martin C. Wapenaar, Maria Luisa Mearin, Frits Koning en Cisca Wijmenga.
Am J. Physiol Gastrointest Liver Physiol 289: G495-G500, 2005
Gluten: a two-edged sword. Immunopathogenesis of celiac disease.
Koning F, Gilissen L, Wijmenga C.
Springer Semin Immunopathol. 2005 Aug 10;
CTLA4 is differentially associated with autoimmune diseases in the Dutch population.
Zhernakova A, Eerligh P, Barrera P, Weseloy JZ, Huizinga TW, Roep BO, Wijmenga C, Koeleman BP.
Hum Genet. 2005 Jul 16;:1-9
Genetic studies to identify genes underlying menopausal age.
Kok HS, van Asselt KM, van der Schouw YT, Peeters PH, Wijmenga C.
Hum Reprod Update. 2005 Jul 15
Monozygous twin brothers discordant for photosensitive epilepsy: first report of visual priming in humans.
Gerrit-Jan de Haan, Dorothee Kasteleijn-Nolst Trenité, Hans Stroink, Jaime Parra, Rob Voskuyl, Marian van Kempen, Dick Lindhout en Ed Bertram.
Epilepsia 46(9):1545-1549,2005
Genotype - phenotype relationship in Hereditary Hemorrhagic Telangiectasia.
Tom G.W. Letteboer Hans-Jurgen J Mager, Repke J Snijder, Bobby P.C. Koeleman, Dick Lindhout, Hans-Kristian Ploos van Amstel, and Kees J.J. Westermann
J. Med. Genet., published online 9 Sep 2005/JMG.2005.035451
Molecular mechanisms of the adaptive, innate and regulatory immune responses in the intestinal mucosa of celiac disease patients.
Diosdado B, Wijmenga C.
Expert Rev Mol Diagn. 2005 Sep;5(5):681-700.
Expressing the differences between Crohn disease and ulcerative colitis.
Wijmenga C.
PLoS Med. 2005 Aug;2(8):e230; quiz e304. Epub 2005 Aug 30.
Initial cancer genetic counseling consultation: Change in counselees' cognitions and anxiety, and association with addressing their needs and preferences.
Pieterse AH, Ausems MGEM, Dulmen AM Van, Beemer FA, Bensing JM.
Am J Med Genet 2005;137A:27-35
"Coelionomics": towards understanding the molecular pathology of coeliac disease.
Diosdado B, van Oort E, Wijmenga C.
Clin Chem Lab Med. 2005;43(7):685-95.
The Many Faces of the Copper Metabolism Protein MURR1/COMMD1.
de Bie P, van de Sluis B, Klomp L, Wijmenga C.
J Hered. 2005 Nov 2
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
Monsuur AJ, Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, Slot RV, Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, Oort EV, Wapenaar MC, Koeleman BP, Wijmenga C.
Nat Genet. 2005 Nov 13
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.
Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L.
Mol Psychiatry. 2005 Oct 4; [Epub ahead of print]
Reliable high-throughput genotyping and loss-of heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays.
Lips EH, Dierssen JW, van Eijk R, Oosting J, Eilers PH, Tollenaar RA, de Graaf EJ, van't Slot R, Wijmenga C, Morreau H, van Wezel T.
Cancer Res. 2005 Nov 15;65(22):10188-91.
Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.
Forman OP, Boursnell ME, Dunmore BJ, Stendall N, Sluis B, Fretwell N, Jones C, Wijmenga C, Rothuizen J, Oost BA, Holmes NG, Binns MM, Jones P.
Anim Genet. 2005 Dec;36(6):497-501.
Lack of association between VEGF polymorphisms and ALS in a Dutch population.
Van Vught PW, Sutedja NA, Veldink JH, Koeleman BP, Groeneveld GJ, Wijmenga C, Uitdehaag BM, de Jong JM, Baas F, Wokke JH, Van den Berg LH.
Neurology. 2005 Nov 22;65(10):1643-5.
Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA).
Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM.
Prenat Diagn. 2005 Nov;25(11):1032-9
Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.
Knijnenburg J, van der Burg M, Nilsson P, Ploos van Amstel HK, Tanke H, Szuhai K.
Nucleic Acids Res. 2005 Oct 12;33(18):e159.

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2005