2004

Lees voor

No Pathogenic Mutations In The Uroplakin Iii Gene Of 25 Patients With Primary Vesicoureteral Reflux .
Jacques C. Giltay, Judith Van De Meerakker, Hans- Kristian Ploos Van Amstel en Tom P. V. M. De Jong .
The Journal Of Urology 0022-5347/04/1712-0931/0 Vol. 171, 931–932, February. 2004.
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
Dineke S Verbeek, Sytse J Piersma, Eric FAM Hennekam, Elly F Ippel, Peter L Pearson and Richard J Sinke.
European Journal of Human Genetics (2004), 1-6
Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility.
J.C. Giltay, M. Deege, M.A. Blankenstein, P.M.M. Kastrop, C. Wijmenga, and M.T.W.T. Lock
Fertility and Sterility, vol 81/3 pp 693-696
Familial intracranial aneurysms.
Ruigrok YM, Rinkel GJ, Wijmenga C.
Stroke. 2004 Mar;35(3):e59-60
Age at natural menopause is not linked with the follicle-stimulating hormone receptor region; a sibpair study.
Kok HS, van Asselt KM, Peeters PHM, van der Schouw YT, Grobbee DE, Pearson PL, Wijmenga C.
Fertil Steril (2004) 81: 611-616
De erfelijke aspecten van coeliakie.
Wapenaar MC, Monsuur AJ, Wijmenga C.
Tijdschr Kindergeneeskd (2004) 72: 11-16
Van gen naar ziekte; autosomaal dominante cerebellaire ataxieen.
Kremer HPH, Warrenburg BPC van de, Sinke RJ.
Nederlands Tijdschrift Voor Geneeskunde (2004) 148:614-616
The genetic puzzle of celiac disease.
Van Belzen MJ, Houwen RH, Wijmenga C, Mulder CJ.
Gastroenterology. 2004 Apr;126(4):1217.
A genomewide screen in a four-generation Dutch family with celiac disease: evidence for linkage to chromosomes 6 and 9.
van Belzen MJ, Vrolijk MM, Meijer JW, Crusius JB, Pearson PL, Sandkuijl LA, Houwen RH, Wijmenga C.
Am J Gastroenterol. 2004 Mar;99(3):466-71.
Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients.
Van Belzen MJ, Koeleman BP, Crusius JB, Meijer JW, Bardoel AF, Pearson PL, Sandkuijl LA, Houwen RH, Wijmenga C.
Genes Immun. 2004 Mar 11
Molecular regulation of copper excretion in the liver.
C Wijmenga and L Klomp.
Proceedings of the Nutrition Society 2004, 63: 31-39.
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.
Schram A, Kroes HY, Sollie K, Timmer B, Barth P, Van Essen AJ.
Am J Med Genet 2004; 127: 172-182.
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener, JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M.
J Med Genet 2004;41: E52
Distinct Functions for WRN and TP53 in cellular responses to 1- beta-D-arabinofuranosylcytosine and bleomycin.
M. Poot, X. Jin*, J.P. Hill*, K.A. Gollahon, P.S. Rabinovitch (2004).
Experimental Cell Research 296, 327-336.
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
R.Sjarif, D., C.Hellerud, J.K.Ploos van Amstel, W.J.Kleijer, W.Sperl, D.Lacombe, J.O.Sass, F.A.Beemer, M.Duran, B.T.Poll- The.
Er.J.Hum.Genet.2004;12:424-432.
Accurate determination of microsatellite allele frequencies in pooled DNA samples.
Hugo G Schnack, Steven C Bakker, Ruben van ’t Slot, Bart M Groot, Richard J. Sinke, Rene S Kahn and Peter L. Pearson
Er.J.Hum.Genet. (2004), 1-10
Gestation-induced changes in lamotrigine pharmacokinetics: A monotherapy study.
G-J. de Haan, P. Edelhoek, J.Segers, M.Engelsman, D.Lindhout, M.Dévilé-Notschaele and P.Augustijn.
Neurology 2004;63:571-573
The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility.
Wapenaar MC, Van Belzen MJ, Fransen JH, Farina Sarasqueta A, Houwen RH, Meijer JW, Mulder CJ, Wijmenga C.
J Autoimmun. 2004 Sep;23(2):183-90.
Association of Polymorphisms and Haplotypes in the Elastin Gene in Dutch Patients With Sporadic Aneurysmal Subarachnoid Hemorrhage.
Ruigrok YM, Seitz U, Wolterink S, Rinkel GJ, Wijmenga C, Urban Z.
Stroke. 2004 Aug 5 [Epub ahead of print]
CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.
Van Belzen MJ, Mulder CJ, Zhernakova A, Pearson PL, Houwen RH, Wijmenga C
Eur J Hum Genet. 2004 Sep;12(9):782-5.
Univerricht-Luundborg Disease: Underdiagnosed in the Netherlands.
Gerrit-Jan de Haan, Dicky J.J. Halley, Jan C. Doelman, Huibert H. Geesink, Paul B. Augustijn, Anke D. Jager-Jongkind, Marianne Majoie, Adri J. Bader, Lian A.W.M. Leliefeld-ten Doeschate, Wout H. Deelen, Ed Bertram, Anna E. Lehesjoki and Dick Lindhout.
Epilepsia, 45(9): 1061-1063, 2004
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
Kroes HY, Olney RS, Rosano A, Liu Y, Castilla EE, Cocchi G, De Vigan C, Martinez-Frias ML, Mastroiacovo P, Merlob P, Mutchinick O, Ritvanen A, Stoll C, van Essen AJ, Cobben JM, Cornel MC.
Am J Med Genet. 2004 Aug 30;129A(2):149-55
Efficacy of MitoTracker GreenTM and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues.
W. Pendergrass, N. Wolf, M. Poot.
Cytometry (2004) 61, 162-169.
Congenital abnormalities in maternal epilepsy treated with lamotrigine-valproate combination: clinical assessment of a phenotype.
ten Berg K, Veenstra-Knol HE, van Pinxteren-Nagler E, Engström LJ, Lindhout D.
Reprod Toxicol 2004;18(5):721-2.
Anticipation and phenotype in familial intracranial aneurysms.
Y M Ruigrok, G J E Rinke, C Wijmenga and J van Gijn.
Journal of Neurology Neurosurgery and Psychiatry 2004;75:1436-1442
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
L.de Boer, S.G.Kant, M.Karperien, L.van Beers, J.Tjon, G.R.Vink,D.van Tol,H.Dauwers, S.le Cessie, F.A.Beemer, I.van der Burgt, B.C.J.Hamel, U.Kuhnle, I.B.Mathijssen, H.E.Veenstra-Knol, C.T.Schrander-Stumpel, M.H.Breuning, J-M.Wit.
Horm Res 2004;62:197-207
Anti-epileptica en aangeboren afwijkingen: Betere voorlichting aan vrouwen met epilepsie noodzakelijk.
ten Berg K, Van Donselaar CA, Van Oppen ACC, Lindhout D.
Medisch Contact 2004;43:1697-1699.
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
Kirsi Alakurtti, Ekkehard Weber, Riitta Rinne, Gerit Theil, Gerrit-Jan de Haan, Dick Lindhout, Paula Salmikangas, Pekka Sukko, Ulla Lahtinen and Anna-Elina Lehesjoki.
European Journal of Human Genetics (2004) 1-8
Ernstige gedragsproblemen bij kinderen met een verstandelijke handicap: het Smith-Magenis syndroom.
IDC van Balkom, FA Beemer, RCM Hennekam.
Tijdschrift voor Psychiatrie 2004/11, jrgang 46, 747-55
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganisation and identify restrictive dermopathy as a lethal neonatal laminopathy.
C.L.Navarro, A.DeSandre-Giovannoli, R.Bernard, I.Boccaccio, A.Boyer, D.Genevieve, S.Hadj-Rabia, C.Gaudy-Marqueste, H.Sillevis Smitt, P.Vabres, L.Faivre, A.Verloes, T.van Essen, E.Flori, R.Hennekam, F.A.Beemer, N.Laurent, M.Le Merrer, P.Cau, N.Levy.
Hum Mol Genet 2004;13:2493-2503
Photoparoxysmal Responses in Children: Their Characteristics and Clinical Correlates. (letter to Editor).
Dorotheé G.A. Kasteleijn-Nolst Trenité, Henk Spekreijse.
Pediatric Neurology (2004) vol.31.no.3
Efficacy and Tolerability of the New Antiepileptic Drugs: Commentary on the Recently Published Practice Parameters (Comment Letters).
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.
Epilepsia 45(12): 1646-1952, 2004
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.
T.J.de Koning, L.W.Klop, A.C.van Oppen, F.A.Beemer, L.Dorland, I.van den Berg, R.Berger.
Lancet 2004; 364 (9452):2221-2222
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
L.de Boer, S.G.Kant, M.Karperien, L.van Beers, J.Tjon, G.R.Vink, D.van Tol, H.Dauwerse, S.le Cessie, F.A.Beemer, I.van der Burgt, B.C.J.Hamel, R.C.Hennekam, U.Kuhnle, I.B.Mathijssen, H.E.Veenstra-Knol, C.T.Schrander-Stumpel, M.H.Breuning, J.M.Wit.
Horm Res 2004;62:192-207

(NB deze lijst is nog niet compleet)

Onderzoek

2004