• Menko FH, van der Luijt RB, de Valk IA, Toorians AW, M Sepers J, van Diest PJ, Lips CJ (2002) Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918. J Clin Endocrinol Metab 87(1):393-397.
  • Dineke S. Verbeek, Jurgen H.Schelhaas, Elly F.Ippel, Frits A.Beemer, Peter L.Pearson, Richard J.Sinke. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
  • Human Genetics (2002) 111:388-393.M. Poot, J.R. Silber, P.S. Rabinovitch (2002) A novel flow cytometeric technique for drug sensitivity studies gives results similar to colony forming assays. Cytometry 48, 1-5.
  • M. Poot, K.A. Gollahon, M.J. Emond, J.R. Silber, P.S. Rabinovitch (2002) Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8- methoxypsoralen: implications for the disease phenotype. FASEB Journal 16, 757-758.
  • H.-M. Wilson, R.S. Birnbaum, M. Poot, L.S.Quinn, K. Swisshelm (2002) Insulin-like growth factorbinding protein-related protein 1 inhibits proliferation of MCF-7 breast cancer cells via a senescence-like mechanism. Cell Growth Differentiation 13, 205-213.
  • M. Poot, S. Hosier, K. Swisshelm (2002) Distinctpatterns of mitochondrial changes precede induction of apoptosis by all-trans-retinoic acid and N-(4-hydroxyphenyl) retinamide in MCF7 breast cancer cells.Experimental Cell Research 279, 128-140.
  • Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? Giltay JC, Wittebol-Post D, van Bokhoven H, Kastrop PM, Lock MT. Clin Dysmorphol 2002 Oct;11(4):231-5
  • Diploid/triploid mosaicism in dysmorphic patients. Van De Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J.Clin Genet. 2002 Nov;62(5):376-82
  • Two cases of the caudal duplication anomaly including a discordant monozygotic twin. Kroes HY, Takahashi M, Zijlstra RJ, Baert JA, Kooi KA, Hofstra, RM, Van Essen AJ. Am J Med Genet. 2002 Nov 1;112(4):390-3.
  • Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child? Kroes HY, Reefhuis J, Cornel MC. Epilepsia. 2002 Aug;43(8):929-31. B.P.C. van de Warrenburg, MD; R.J. Sinke, PhD; C.C Verschuuren-Bemelmans, MD; H. Scheffer, PhD; E.R.P. Brunt, MD; P.F. Ippel, MD; J.A. Maat-Kievit, MD, PhD; D. Dooijes, PhD; N.C. Notermans, MD, PhD; D. Lindhout, MD, PhD; N.V.A.M. Knoers, MD, PhD; H.P.H. Kremer, MD, PhD. Published in: Neurology 58 (2002): 702-708
  • Een uvula bifida bij een patiente met schizofrenie als teken van het 22q11 deletiesyndroom.Vorstman, J.A.S., A.G.S.de Ranitz, F.E.A.Udink ten Cate, F.A.Beemer en R.S.Kahn. Ned.Tijdschr.Geneeskd.2002;146(43):2033-2036.
  • Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. B.P.C. van de Warrenburg, MD; R.J. Sinke, PhD; C.C Verschuuren-Bemelmans, MD; H. Scheffer, PhD; E.R.P. Brunt, MD; P.F. Ippel, MD; J.A. Maat-Kievit, MD, PhD; D. Dooijes, PhD; N.C. Notermans, MD, PhD; D. Lindhout, MD, PhD; N.V.A.M. Knoers, MD, PhD; H.P.H. Kremer, MD, PhD. Published in: Neurology 58 (2002): 702-708
  • Two cases with partial trisomy 9p: Molecular cytogenetic characterization and clinical follow-up. Annemieke S. Littooij , Ron Hochstenbach, Richard J. Sinke, Peter van Tintelen, Jacques C. Giltay. American Journal of Medical Genetics, Volume 109, Issue 2, 2002. Pages: 125-132
  • A novel germline mutation of PTEN associated with brain tumours of multiple lineages. F J T Staal, R B van der Luijt, M R M Baert, J van Drunen, H van Bakel, E Peters, I de Valk, H K P van Amstel, M J B Taphoorn, G H Jansen, C W Mvan Veelen, B Burgering en G E J Staal. Br J Cancer 86(9):1518-23 (2002)
  • Concordance as well as discordance for congenital malformations in valproate-exposed halfsiblings with parental consanguinity may indicate a specific gene-teratogen interaction. K. ten Berg and D. Lindhout. Clin Dysmorphol 2002;11(3):227-228.
  • Maternal occupational methyl ethyl ketone exposure and multiple congenital anomalies. Ten Berg K, Hoogeboom AJM, Wesby- van Swaaij E and Lindhout D. Teratology 2002;65(6):326.
  • Quality and quantity of DNA isolated from frozen urine in population-based research. van der Hel OL, van der Luijt RB, Bas Bueno de Mesquita H, van Noord PA, Slothouber B, Roest M, van der Schouw YT, Grobbee DE, Pearson PL, Peeters PH. Analytical Biochemistry 304(2):206-11 (2002).
  • Association between D6S2223 and type 1 diabetes independent of HLA class II in Dutch Families. Koeleman BPC, de Groot KN, van de Slik AR, Roep BO, and Giphart MJ. Diabetologia 2002. 45: 598-599.
  • Seasonality of birth in patients with type 1 diabetes. Koeleman BPC, Valdigem G, Eerligh P, Giphart MJ, Roep BO. Lancet 2002. 6;359:1246-7.
  • A gene in the telomeric HLA complex distinct from HLA-A is involved in predisposition to Juvenile Idiopathic Arthritis (JIA). Smerdel A, Lie BA, Ploski R, Koeleman BPC, Førre Ø, Thorsby E, Undlien DE. Arthritis & Rheumatism, 2002, 46: 1614-1616.
  • Genetic determinants of rheumatoid arthritis: the inducible nitric oxide synthase (NOS2) gene promoter polymorphism. Pascual M, Lopez-Nevot MA, Caliz R, Koeleman BPC, Balsa A, Pascual-Salcedo D, Martin J. Genes Immun. 2002, 3: 299-301.
  • Radiological features of bilateral hereditary micro-epiphyseal dysplasia – a distinct entity in the skeletal dysplasias.A.K.Mostert, P.F.Dijkstra, J.R.van Horn, B.R.H.Jansen, P.Heutink, D.Lindhout. Fortschr Röntgenstr 2002; 174-887-892.
  • Antiepileptic drugs in pregnancy: options for prevention of congenital abnormalities. Ten Berg K and Lindhout D. Community Genet 2002;5:40-49.
  • Benign familial infantile convulsions: a clinical study of seven Dutch Families. Petra MC Callenbach, René FM de Coo, Alla a Vein, Willem Frans M Arts, Jan C Oosterwijk, Gerard Hageman, Robert ten Houten, Gisela M Terwindt, Dick Lindhout, Rune R Frants, Oebele F Brouwer. European Journal of Paediatric Neurologt 2002; 6-269-283
  • No Evidence for a Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 18q21.1
  • Thomas Sander, Christine Windemuth, Herbert Schulz, Kathrin Saar, Elena Gennaro, Amedeo Bianchi, Federico Zara, Christne Bulteau, Anna Kaminska, Dorothée Ville, Cécile Cieuta, Jean-François Prud’homme, Olivier Dulac, Louise Bate, R.Mark Gardiner, Gerrit-Jan de Haan, Guus A.M.A.J.Jansen, Jorine Witte, Dicky J.J.Halley, Dick Lindhout, Thomas F.Wienker and Dieter Janz. American Journal of Medical Genetics (Neuropsychiatric Genetics) 114:673-678 (2002).

    (NB Deze lijst is nog niet compleet)


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