Publicaties 2001Alfen, N van, Sinke, RJ, Zwarts, MJ, Gabreels-Festen, A, Praamstra, P, Kremer, HPH & Horstink, MWIM (2001) Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Annals of Neurology, 49, 805-808.
Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W. (2001) Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology 57, 1108-1111.
Ausems, MGEM, Berg, K ten, Sandkuijl, LA, Kroos, MA, Bardoel, AFJ, Roumelioti, KN, Reuser, AJJ, Sinke, RJ & Wijmenga, C (2001) Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. Journal of Medical Genetics, 38, 527-529.
Ausems, MGEM, Wokke, JHJ, Reuser, AJJ & Diggelen, OP van (2001) Juvenile and adult-onset acid maltase deficiency in France: genotoype-phenotype correlation. Neurology, 57, 1938.
Belzen, MJ van, Mulder, CJJ, Pearson, PL, Houwen, RHJ & Wijmenga, C (2001) The tissue transglutaminase (tTG) gene is not a primary factor predisposing to celiac disease. American Journal of Gastroenterology, 96(12), 3337-3341.
Berkum, NL van & Holstege, FCP (2001) DNA microarrays: raising the profile. Current Opinions in Biotechnology, 12(1), 48-52.
Bokhoven, H van, Hamel, BCJ, ... Beemer, FA, et al. (2001) p63 gene mutations in EEC syndrome, limb mammary syndrome, and isolated split-hand split-foot malformation suggest a genotype-phenotype correlation. The American Journal of Human Genetics, 69, 481-492.
Brazma, A, ... Holstege, FCP, et al. (2001) Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nature Genetics 29, 365-371.
Bruin, JP de, Bovenhuis, H, Noord, PAH van, Pearson, PL, Arendonk, JAM van, Velde, ER. te, Kuurman, WW & Dorland, M. (2001) The role of genetic factors in age at natural menopause. Human Reproduction, 16(9), 2014-2018.
Buijs, A, Poddighe, PJ, Wijk, R van, Solinge, WW van, Borst, E, Verdonck, LF, Hagenbeek, A, Pearson, PL & Lokhorst, HM. (2001) A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood, 98(9), 2856-2858.
Catassi, C, ... Belzen, MJ van, Wijmenga, C, et al. (2001) When is a coeliac a coeliac? Report of international working group. European Journal of Gastroenterology and Hepatology, 13, 1123-1128.
Geisberg, JV, Holstege, FCP, Young, RA & Struhl, K (2001) Yeast nc2 associates with the RNA polymerase ii preinitiation complex and selectively affects transcription in vivo. Molecular Cell Biology, 21, 2736-2742.
Giltay, JC, Ausems, MGEM, Seumeren, I van, Zewald, RA Sinke, RJ, Faas, BHW & Vroede, M. de (2001) Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. European Journal of Pediatrics, 160, 154-158.
Goedbloed MA, Nellist M, Verhaaf B, Reuser AJJ, Lindhout D, Sunde L, Verhoef S, Halley DJJ van den Ouweland AMW. (2001) Analysis of TSC2 stop codon variants found in tuberous sclerosis patients. Eur J Hum Genet 9, 823-828.
Gong, Y, Slee, RB, ... Letteboer, T, Boogaard, MJH van den, et al. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell, 107, 513-523.
Haelst MM van, Van Opstal D, Lindhout D, Los FJ. (2001) Management of prenatally detected trisomy 8 mosaicism. Prenat Diagnosis 21,1075-1078.
Hes, FJ, Luijt, RB van der & Lips, CJM (2001) Clinical management of Von Hippel-Lindau (VHL) disease. The Netherlands Journal of Medicine, 59(5), 225-234.
Hes, FJ, Lips, CJM & Luijt, RB van der (2001) Molecular genetic aspects of Von Hippel-Lindau (VHL) disease and criteria for DNA analysis in subjects at risk. The Netherlands Journal of Medicine, 59(5), 235-243.
Lips, CJM, Hoppener, JW & Luijt, RB van der (2001) Introduction to multiple endocrine neoplasia syndromes. Topical Endocrinology, 18(July), 1-6.
Luijt, RB van der, Zon, PHA van, Jansen, RPM, Bos, CJM, Warlam-Rodenhuis, CC & Ausems, MGEM (2001) De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. Journal of Medical Genetics, 38(2), 102-105.
Marcelis, C, Schrander-Stumpel, C, Engelen, J, Schoonbrood-Lenssen, A, Willemse, A, Beemer, FA, Sigaudy, S, Missirian, C, Philip, N & Fryns, J.P. (2001) Wolf-Hirschhorn (4P-) syndrome in adults. Genetic Counseling, 12(1), 35-48.
McGrath, JA, Duijf, PHG, Doetsch, V, Irvine, AD, Waal, R de, Vanmolkot, KRJ, Ausems, MGEM, et al. (2001) Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Human Molecular Genetics, 10(3), 221-229.
Mulder, EJH, Beemer, FA & Stoutenbeek, Ph (2001) Restrictive dermopathy and fetal behaviour. Prenatal Diagnosis, 21, 581-585.
Okkerse, JME, Beemer, FA, Cordia-de Haan, M, Heineman-de Boer, JA, Mellenbergh, GJ & Wolters, WHG (2001) Facial attractiveness and facial impairment ratings in children with craniofacial malformations. The Cleft Palate-Craniofacial Journal, 38, 386-392.
Papadopoulos, GK, Wijmenga, C & Koning, F (2001) Celiac disease: interplay between genetics and the environment. Perspective for a healthy life. Journal of Clinical Investigation, 108, 1261-1266.
Pearson, PL, & Velde E te (2001)The social behavioural and genetic determinants of female infertility. Tijdschrift voor Fertiliteitsonderzoek, 15(1), 2-7.
Pena, AS & Wijmenga, C (2001) Genetic factors underlying gluten-sensitive enteropathy. Current Allergy Reports, 1, 526-533.
Rosenberg, C, Wouters, CH, Szuhai, K, Dorland, M, Pearson, PL, Poll-The, BT, Colombijn, RM, Breuning, MH & Lindhout, D (2001) A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease. European Journal of Human Genetics, 9(3), 171-177.
Rosenberg, C, Geelen, E, IJszenga, MJ, Pearson, PL, Tanke, HJ, Dinjens, WNM & Dekken, H van (in press) Spectrum of genetic changes in gastro-esophageal cancer cell lines determined by an integrated molecular cytogenetic approach. Cancer genetics and cytogenetics.
Schelhaas, HJ, Ippel, PF, Hageman, G, Sinke, RJ, Laan, EN van der & Beemer, FA (2001) Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. Journal of Neurology, 248, 113-120.
Sinke, RJ, Ippel, PF, Diepstraten, CM, Beemer, FA, Wokke, JHJ, Hilten, JJ van, Knoers, NV, Ploos van Amstel, JK & Kremer, HPH (2001) Clinical and molecular correlations in spinocerebellar ataxia type 6. A study of 24 Dutch families. Archives of neurology, 58, 1839-1844.
Sjarif, DR, Révész, T, Koning, TJ. de, Duran, M, Poll-The, BT & Beemer, FA (2001) Isolated glycerol kinase deficiency and Fanconi anemia. American Journal of Medical Genetics, 99(2), 159-160.
Sluis, B van de, Nanji, M, Breen, M, Pearson, PL, Oost, BA van & Wijmenga, C (2001) Characterization and chromosomal localization of five canine ATOX1 pseudogenes. Cytogenetics and Cell Genetics, 93, 105-108.
Sluis, B van de, Rothuizen, J, Pearson, PL, Oost, BA van, Wijmenga, C (in press) Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Human Molecular Genetics.
Tilburg, JHO van, Haeften, TW van, Pearson, PL & Wijmenga, C (2001) Defining the genetic contribution of type 2 diabetes mellitus. Journal of Medical Genetics, 38, 569-578.
Vaskivuo, TE, Anttonen, M, Herva, R, Billig, H, Dorland, M, Velde, ER te, Stenback, F, Heikinheimo, M & Tapanainen, JS (2001) Survival of human ovarian follicles from fetal to adult life: apoptosis, apoptosis-related proteins, and transcription factor GATA-4. Journal of Clinical Endocrinology and Metabolism, 86(7), 3421-3429.
Virbasius, CM, Holstege, FC, Young, RA & Green, MR (2001) Promoter-specific activation defects by a novel yeast TBP mutant compromised for TFIIB interaction. Current Biology 11, 1794-1798.
Vink, T, Hinney, A, Elburg, AA van, Goozen, SHM van, Sandkuijl, LA, Sinke, RJ, Herpertz-Dahlmann, BM, Hebebrand, J, Remschmidt, H, Engeland, H van & Adan, RAH (2001) Association between an agouti-related protein gene polymorphism and anorexia nervosa. Molecular Psychiatry, 6(3), 325-328.
Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R. (2001) Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genetics 38, 318-322.
Warrenburg, BPC van de, Frenken, CWGM, Ausems, MGEM, Kleefstra, T, Sinke, RJ, Knoers, N.V. & Kremer, HPH (2001) Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. Journal of Neurology, 248, 911-914.
Beemer, FA (2001) Metabolic disorders. In Gorlin, RJ, Cohen Jr, MM & Hennekam, RCM (Eds), Syndromes of the head and neck. 4th edition, 119-177, Oxford Univ Press.
Hansen, RS, Weemaes, CMR, & Wijmenga, C (in press) Immunodeficiency with centromere instability and facial anomalies. In Ochs, H (Ed), Primary Immunodeficiency Diseases, a Molecular and Genetic Approach.
Lindhout, D (in press) Genetic counseling in a woman with a family history of refractory myoclonic epilepsy. In Schmidt, D & Schachter SC (Eds),101 Puzzling cases of epilepsy. Martin Dunitz, London.
Nellist, M, Verhoef, S, Lindhout D, Halley DJJ, & van den Ouweland, AMW (2001) Tuberous Sclerosis complex. In Cowel, JK (Ed) Molecular Genetics of Cancer. 2nd edition, 277-280, Academic Press Inc.
Pearson, PL (2001) Chromosome mapping. In Brenner, S & Miller, JH (Eds), Encyclopedia of Genetics. 1, 353-367, Academic Press Inc.
Pearson, PL (2001) Jerome LeJeune. In Brenner, S & Miller, JH (Eds), Encyclopedia of Genetics. 2, 1085-1087, Academic Press Inc.
Pearson, PL (2001) Triploidy. In Brenner, S & Miller, JH (Eds), Encyclopedia of Genetics. 4, 2055-2056, Academic Press Inc.
Pearson, PL (2001) Trisomy. In Brenner, S & Miller, JH (Eds), Encyclopedia of Genetics. 4, 2056-2058, Academic Press Inc.
Wapenaar, M & Dunnen, JT den (2001) Exon trapping: application of a large-insert multiple-exon-trapping system. In Starkey, MP & Elaswarapu, R (Eds), Genomics Protocols. (Methods in Molecular Biology, 175, Humana Press Inc.
Wijmenga, C (in press) Non-Indian childhood cirrhosis. Using a founder population to identify the underlying genetic defect. In Massaro, EJ (Ed), Handbook of Copper Pharmacology and Toxicology. Humana Press Inc.
Beemer, FA (2001) Kinderen op bestelling: hoe ver willen we gaan met de mogelijkheden van de genetica. In Bakker, W, Damen, MLW, Merkz, JAM & Prinsen, B (Ed.), Alle kinderen in beeld. Ouder- en kindzorg tussen wetenschap en praktijk. (pp. 263-269). Assen: Koninklijke van Gorcum.
Deinum, PB, Spijker, HG van, Skrabanja, TLM & Beemer, FA (2001) Genetische counseling en ziekteverzuim. Tijdschrift voor Bedrijfs- en Verzekerings-Geneeskunde, 9(10), 301-307.
Hofstra, RMW, Luijt, RB van der & Lips, CJM (2001) Van gen naar ziekte; van het RET-gen naar multipele endocriene neoplasie type 2A en 2B, sporadisch en familiar medullair schildkliercarcinoom, de ziekte van Hirschsprung en papillair schildkliercarcinoom. Nederlands Tijdschrift Geneeskunde, 145, 46 (17 Nov), 2217-2221.
Tuerlings, J & Giltay, JC (2001) Ontwikkelingen binnen mannelijke infertiliteit. Medisch Contact, 56, 868-871.
Verhoef S, Lindhout D, Halley DJJ, & van den Ouweland AMW (2001) Van gen naar ziekte; de TSC1- en TSC2-genen en tubereuze-sclerosis complex. Nederlands Tijdschrift voor Geneeskunde, 145, 1928-1930.
Warrenburg, BPC van de, Sinke, RJ, Lindhout, D, Ippel, PF, Wokke, JHJ, Notermans, NC, Dooijes, D, Maat-Kievit, JA, Verschuuren-Bemelmans, CC, Scheffer, H, Brunt, ERP, Knoers, NV & Kremer, HPH (2001) Autosomaal dominante cerebellaire ataxieen in Nederland: een nationale inventarisatie. Nederlands Tijdschrift voor Geneeskunde, 145, 962-967.
Bakker, SC, Sandkuijl, LA, Schelleman, H, Meulen, EM van der, Wijmenga, C, Pearson, PL & Sinke, RJ (2001) DNA pooling as an efficient screening tool for ADHD candidate gene studies: correction of PCR-induced artifacts. American Journal of Medical Genetics, 105(7), 566.
Belzen, MJ van, Mulder, CJ, Oren, A, Strengman, E, Pearson, PL, Sandkuijl, LA, Houwen, RHJ & Wijmenga, C (2001) Linkage and association analysis of the tissue transglutaminase gene: the tTG gene is not involved in celiac disease. Gastroenterology, 120, supp 1, 699.
Giltay, JC, Wittebol-Post, D, Bokhoven, H van, Kastrop, PMM & Lock, MTWT (2001) Split hand/split foot, iris coloboma, hypospadias and subfertility: a new developmental malformation complex? European Journal of Human Genetics, 9, supp 1, 195.
Haan G-J de, Augustijn PB, Geesink HH, Doelman JC, Halley DJJ, Deelen WH, Bader A, Lindhout D. (2001) DNA diagnostiek bij het syndroom van Unverricht Lundborg. (2001) Nederlandse Vereniging voor Kinderneurologie, Tilburg, 6 April 2001.
Haven, CJ, Dam, E van, Luijt, RB van der, Lips, CJM, Menko, FH, Morreau, H & The International Consortium, on HPT-JT (2001) Search for the HRPT2 gene mutated in hyperpara-thyroidism-jaw tumor syndrome. The Netherlands Journal of Medicine, 58, A87.
Hochstenbach, PFR., Letteboer, T & Giltay, JC (2001) Extremely distal rearrangements identified by subtelomeric DNA probes: new opportunities for studying the phenotypic effects of partial trisomies. Annales de Genetique, Elsevier, 44, supp 1, S52.
Ippel, PF, Engelen, JJM & Pater, JM de (2001) Trisomy 9p22p24 due to a maternal insertion translocation. European Journal of Human Genetics, 9, supp 1, 156.
Luijt, RB van der, Zon, P.HA van, Jansen, RPM, Bos, C.J.M., Warlam-Rodenhuis, C.C. & Ausems, MGEM (2001) De novo recurrent germline mutation of the BRCA2 gene in a patient with early-onset breast cancer. The Netherlands Journal of Medicine, 58, A83-A91.
Man, SA de, Rayen, I, Bos, C.J.M., Pater, JM de, Christiaens, GCML, Hoogeboom, AJM & Govaerts, LCP (2001) Trisomy 5p: a comparison with other cases. Genetic Counseling.
Menko, FH, Luijt, RB van der, Valk, I de, Sepers, JM, Diest, PJ van & Lips, CJM (2001) Clinical and genetic variability of multiple endocrine neoplasia type 2B. The Netherlands Journal of Medicine, 58, A87.
Menko, FH, Luijt, RB van der, Valk, IAJ de, Toorians, AM, Sepers, JM, Diest, PJ van, Lips, CJM (in press) Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. The Journal of Clinical Endocrinology and Metabolism 87(1).
Meulen, EM van der, Bakker, SC, Pauls, DL, Sinke, RJ & Buitelaar, JK (2001) The genetics of social skills and the association with candidate genes in a sample of 140 Dutch sibpairs with ADHD. American Journal of Medical Genetics, 105(7), 633.
Pater, JM de, Ippel, PF & Engelen, JJM (2001) Characterization of partial trisomy 9p due to insertion translocation by chromosomal microdissection and FISH. Annales de Genetique, Elsevier, 44, supp 1, S46.
Sluis, B van de, Rothuizen, J, Pearson, PL, Oost, BA van & Wijmenga, C (2001) Towards cloning the copper toxicosis gene in Bedlington terriers. American Journal of Human Genetics, 69, supp 4, 479.
Tilburg, JHO van, Strengman, E, Pearson, PL, Sandkuijl, LA, Haeften, TW van & Wijmenga, C (2001) First results of a genome-wide scan in Dutch Caucasian sibpairs with type 2 diabetes mellitus. American Journal of Human Genetics, 69 supp 4, 534.
Tilburg JHO van, Strengman E, van Someren H, Rigters-Aris CAE, Freriks JP, Pearson PL, Sandkuijl LA, van Haeften TW, Wijmenga C (2001) Are genes on chromosome 20 involved in type 2 diabetes mellitus in the Netherlands? Netherlands Journal of Medicine, 59, A1-A7.
Tomson, T, Battino, D, Beaussart, M, Bonizzoni, E, Craig, J, Lindhout, D, Perucca, E, & Vajda, F, on behalf of the EURAP collaborative study group. (2001) EURAP: An International Pregnancy Registry for the Evaluation of the Comparative Teratogenic Effects of Antiepileptic Drugs, International Epilepsy Congress, Buenos Aires, 13-19 May 2001, abstract published in Epilepsia.
Ausems, MGEM. Bijdrage van gentechnologie aan bestrijding van erfelijke ziekten. 365-jaar bestaan Utrecht Universiteit, 27 March 2001.
Ausems, MGEM. Borstkanker: wanneer erfelijkheidsonderzoek? Waardenburg, Werkgroep deskundigheidsbevordering huisartsen (WDH) Gelders Rivierenland, 1 Nov 2001.
Bakel, HHMJ van. Analysis of the yeast copper pathways using DNA microarrays and sequence data. Rolduc, Kerkrade, NWO Genetics Seminar, 8 Nov 2001.
Bakker, SC, Sandkuijl, LA, Schelleman, H, Meulen, EM van der, Wijmenga, C, Pearson, PL & Sinke, RJ. DNA pooling as an efficient screening tool for ADHD candidate gene studies: correction of PCR-induced artifacts. IXth World Congress for Psychiatric Genetics, St. Louis, 6-10 Oct. 2001.
Beemer, FA. Het begin van de klinische genetica: Van brede neuzen tot dubbele tenen. Veldhoven, Afscheidssymposium voor Ed Lommen, 26 Jan 2001.
Beemer, FA. Pierre Robin sequentie: relatief frequente oorzaken. Utrecht, Divisie KNO symposium, UMC, 23 March 2001.
Beemer, FA. Medische aspecten en medische zorg bij VCFS door de jaren heen. De Sterrenberg, Huis ter Heide, Jaardag Ouderennetwerk VCFS, 7 April 2001.
Beemer, FA. Het velo-cardio-faciaal syndroom. Utrecht, Divisie Psychiatrie, UMC, 6 June 2001.
Beemer, FA. Een temperatuursgevoelige oorzaak van een syndroom bij een tweejarig meisje. Utrecht, Werkgroep ter bestudering van somatische oorzaken van zwakzinnigheid, 14 June 2001.
Beemer, FA, Kramer, PPG, Giedion, A & Mortier, GR. Premature epimetaphyseal fusion in hands and hips as the key radiographic manifestation in a 'new' metaphyseal chondrodysplasia. Straatsburg, 12th European meeting on Dysmorphology, 6 Sept 2001.
Beemer, FA & Beltman, I. Kinderen op bestelling: hoe ver willen we gaan met de mogelijkheden van de genetica? Amsterdam, Congres 100 jaar ouder- en kindzorg in Nederland, 9 Nov 2001.
Beemer, FA & Vliet-Lachotzki, E van. Kinderen op bestelling? Utrecht, Vakgroep Jeugdgezondheidszorg, NIZW, 10 Dec 2001.
Belzen, MJ van. MICB is a new celiac disease locus within the MHC strongly contributing to disease risk. Edinburgh, Human Genome Mapping meeting, 19-22 April 2001.
Belzen, MJ van, Mulder, CJ, Oren, A, Strengman, E, Pearson, PL, Sandkuijl, LA & Wijmenga, C. Linkage and association analysis of the tissue transglutaminase gene: the tTG gene is not involved in celiac disease. Atlanta, Digestive Disease Week meeting, 20-23 May 2001.
Boogaard, M-JH van den. Oligodontie en MSX1. Refereeravond Schisisteam AMC en VU, Amsterdam, 22 Feb. 2001.
Boogaard, M-JH van den. Human MSX1 mutations, dental agenesis and labial and palate clefts. Paris, Congres les journees de l’orthodontie: Genetic approach of dental and craniofacial dysmorphism, 11 Nov. 2001.
Buijs, A. Association of single-nucleotide mutation within CBFA2 in familial storage pool deficiency with propensity to develop myeloid malignancies. AMC, Amsterdam, NAV Voorjaarssymposium, 20 April 2001.
Giltay, JC. Erfelijkheidsvoorlichting bij EPP. Utrecht, EPP Patientenvereniging, 10 Nov 2001.
Hennekam, F.A.M. DNA-onderzoek en privacy. Utrecht, Gastcollegevoor "Orientatie MBT studiepad" voor 1e jaars studenten Natuurwetenschappen & Innovatiemanagement, 12 June 2001.
Holstege, FCP. Unravelling whole new genome transcription circuitry using DNA microarrays. Noordwijkerhout, the Netherlands, International Symposium on New Technology, 2 March 2001.
Holstege, FCP. Genome analysis. Contribution to the FMWV medical science day, Genome Analysis: Browsing the Book of Life, VU Amsterdam, 23 Nov 2001.
Lindhout, D. Epilepsy and genetics: applications of DNA diagnostics. Leuven Neurological Society, Leuven, 13 March 2001.
Lindhout, D. Epilepsy: from channel to ocean. Postgraduate Course in Paediatrics, AMC, Amsterdam, 5 April 2001.
Lindhout, D. Review of teratogenicity of antiepileptic drugs. British League against Epilepsy annual national meeting, Liverpool, 20 April 2001.
Lindhout, D. Caffeine and pregnancy: new aspects of reproductive toxicology. Department of Celbiology & Genetics, University of Limburg, Maastricht, 19 June 2001.
Lindhout, D. Genetics and society. Vereniging Gereformeerde Studenten Utrecht, Utrecht, 11 October 2001.
Luijt, RB van der. De novo recurrent germline mutation of the BRCA2 gene in a patient with early-onset breast cancer. Utrecht, XIVth Symposium STOET: Clinical update of hereditary cancer, 2 Feb 2001.
Luijt, RB van der. Waarom duurt het allemaal zo lang? Over de mogelijkheden en onmogelijkheden van DNA-onderzoek. Utrecht, Bijeenkomst voor families waarin een erfelijke vorm van borst- en/of eierstokkanker voorkomt, 17 March 2001.
Luijt, RB van der. Van genetische code ... tot genexpressie. Utrecht, Cursorisch onderwijs arts-assistenten kindergeneeskunde, 29 March 2001.
Luijt, RB van der. Het humane genoom. Utrecht, Gastcollegevoor "Orientatie MBT studiepad" voor 1e jaars studenten Natuurwetenschappen & Innovatiemanagement, 11 June 2001.
Luijt, RB van der. Erfelijke borstkanker en DNA-diagnostiek. Utrecht, Gastcollegevoor "DNA-diagnostiek in de samenleving" voor 3e jaars studenten Natuurwetenschappen & Innovatiemanagement, 17 Sept 2001.
Man, SA de, Rayen, I, Bos, CJM, Pater, JM de, Christiaens, GCML, Hoogeboom, AJM & Govaerts, LCP. Trisomy 5p: a comparison with other cases. 12th European meeting of Dysmorphology: Straatsburg.
Mortier, GR, Kramer, P.P.G., Hellemans, J, Giedion, A & Beemer, FA. Premature epimetaphyseal fusion in hands and hips as the key radiographic manifestation in a 'new' metaphyseal chondrodysplasia. Oxford, UK, 5th International congress on skeletal dysplasias, 7 Sept 2001.
Sluis, B. van de. The gene causing defective biliary copper excretion in Bedlington terriers. Dublin, European Society of Veterinary Internal Medicine congress, 5 Sept 2001.
Sluis, B. van de. Towards cloning the copper toxicosis gene in Bedlington terriers. Coventry, UK, UK Kennel Club seminar, 17 June 2001.
Spijker, HG van. Psychosociale gevolgen van erfelijke kanker. Vicky Brownhuis, ’s Hertogenbosch: bijeenkomst voor kankerpatiënten en familieleden, 8 Jan 2001.
Spijker, HG van. Psychosociale aspecten bij prenatale diagnostiek. Vroedvrouwenschool Amsterdam, 3 April 2001.
Spijker, HG van. Communicatie met ouders. Bartiméus Zeist, Vroegbegeleiders, 7 Dec 2001.
Staal, GEJ. Bio-katalysator? Utrecht, Afscheidsrede, 7 June 2001.
Terhal, PA. Klinische genetica in de kinderfysiotherapie. Hogeschool van Utrecht, 16 Nov. 2001.
Terhal, PA. Hypermobiliteit bij kinderen. UMC Utrecht, Grand Round Kindergeneeskunde, 5 June 2001.
Tilburg, JHO van. First results of a genome-wide scan in Dutch Caucasian sibpairs with type 2 diabetes mellitus. Rolduc, Kerkrade, NWO Genetics Seminar, 8 Nov 2001.
Tilburg, JHO van, Strengman, E, Pearson, PL, Sandkuijl, LA, Haeften, TW van & Wijmenga, C. Preliminary results from a total genome scan in 260 Dutch affected sibpairs with type 2 diabetes mellitus. Amersfoort, Nederlands Ver. Diabetes Onderzoek, 26 Jan 2001.
Tilburg, JHO van, Strengman, E, Pearson, PL, Sandkuijl, LA, Haeften, TW van & Wijmenga, C The Breda study: a total genome scan in 336 Dutch affected sibpairs with type 2 diabetes mellitus. Denmark, Anglo-Danish-Dutch Diabetes Group.
Tomson, T, Battino, D, Beaussart, M, Bonizzoni, E, Craig, J, Lindhout, D, Perucca, E, & Vajda, F, on behalf of the EURAP collaborative study group. EURAP: An International Pregnancy Registry for the Evaluation of the Comparative Teratogenic Effects of Antiepileptic Drugs. Buenos Aires, International League Against Epilepsy Congress, 13-17 May 2001.
Verbeek, DS. The identification of a novel SCA locus in a Dutch family with autosomal dominant cerebellar ataxia (ADCA) on chromosome 1q21. Rolduc, Kerkrade, NWO Genetics Seminar, 9 Nov 2001.
Vries, L, S, . de & Beemer, FA. Een vaak voorkomende, maar helaas nogal eens niet herkende aandoening. Utrecht, Werkgroep ter bestudering van somatische oorzaken van zwakzinnigheid, 14 June 2001.
,, , , , Wijmenga, C, Tilburg, JHO van, Strengman, E, Pearson, PL, Sandkuijl, LA, & Haeften, TW van. The Breda study: a total genome scan in 336 Dutch affected sibpairs with type 2 diabetes mellitus. Utrecht, NWO Werkgemeenschap Diabetes en Stofwisse, , l, , ing, 23 March 2001.
Wijmenga, C. Genetisch complexe ziektebeelden. Nieuwe perspectieven ten gevolge van het humane genoom project. Utrecht, Van genoom naar genezing (door krachtenbundeling van vijf faculteiten) ten inlossen van de Academisch Biomedisch Centrum, 11 April 2001.
Wijmenga, C. Towards identifying the ICT gene. Santa Fe, International Copper Association meeting, 23 April 2001.
Wijmenga, C. Het humane genoom project: wat weten we nu? wat kunnen we ermee? Utrecht, Visiting lecture to course on Molecular Biology for Pediatricians, 17 May 2001.
Wijmenga, C. An integrated approach towards understanding the molecular basis of copper toxicity. Bethesda, USA, Seminar at National Human Genome Research Institute, NIH, 23 Sept 2001.
Bakel, HHJM van. Analysis of the yeast copper pathways using DNA microarrays and sequence data. Metals and Cells meeting: Society of Experimental Biology: Canterbury, UK, 2-5 April 2001.
Belzen, MJ van. MICB is a new celiac disease locus within the MHC strongly contributing to disease risk. Human Genome Mapping meeting, Edinburgh, 19-22 April 2001.
Buijs, A, Poddighe, PJ, Wijk, R van, Solinge, WW van, Borst, E, Verdonck, LF, Hagenbeek, A, Pearson, PL & Lokhorst, HM. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. American Society of Hematology, Orlando, Florida, 10 Dec 2001.
Christiaens, GCML, Vissers, J, Poddighe, PJ & Pater, JM de. Whole genome screening for aneuploidy in stillborn babies. World Congress of Perinatal Medicine: Barcelona, 23-27 Sept 2001.
Grosfeld, FJM, Schlich-Bakker, KJ, Kroode, HFJ ten, Ausems, MGEM, Warlam-Rodenhuis, CC, Echtelt, J, Koot, VCM & Bout, J van den. Breaking the rule of non-directiveness: the psychological impact of early identification of breast cancer patients at risk for hereditary breast cancer. Psychosocial aspects of genetic testing for hereditary breast cancer, HBOC and HNPCC: Frankfurt, 27-28 Sept 2001.
Hochstenbach, PFR, Letteboer, T & Giltay, JC. Extremely distal rearrangements identified by subtelomeric DNA probes: new opportunities for studying the phenotypic effects of partial trisomies. 3rd European Cytogenetics Conference: Paris, 7-10 July 2001.
Ippel, PF, Engelen, JJM & Pater, JM de. Trisomy 9p22p24 due to maternal insertion translocation. 10th International Congress on Human Genetics: Vienna, 15-19 May 2001.
Kok, H, Asselt, K. van, Peeters, P, Schouw, Y van der, Grobbee, D. Determinants of ovarian ageing. WEON, Amsterdam, 6 June 2001.
Kok, H, Asselt, K. van, Peeters, P, Schouw, Y van der, Grobbee, D, Velde, E te, Sandkuijl, L, Wijmenga, C, Pearson, PL. Menopausal age as a complex trait. Gordon Research Conference on Human Molecular Genetics, Newport, Rhode Island, 9 August 2001.
Meulen, EM. van der, Bakker, SC, Pauls, DL, Buitelaar, JK & Sinke, RJ. Social deficits and language problems in children with ADHD: the association with DRD4 and DAT-1 risk alleles in a Dutch sample of 140 affected sibpairs. American Association of Child and Adolescent Psychiatry Conference: Honolulu, 23-28 Oct 2001.
Pater, JM de, Ippel, PF & Engelen, JJM. Characterization of partial trisomy 9p due to insertion translocation by chromosomal microdissection and FISH. 3rd European Cytogenetics Conference: Paris, 7-10 July 2001.
Sluis, B. van de, Rothuizen, J, Oost, BA van, Wijmenga, C & Pearson, PL. Towards cloning the copper toxicosis gene in Bedlington terriers. Metals and Cells meeting, Society of Experimental Biology: Canterbury, UK, 2-5 April 2001.
Sluis, B. van de, Rothuizen, J, Oost, BA van, Wijmenga, C & Pearson, PL. Towards cloning the copper toxicosis gene in Bedlington terriers. American Society of Human Genetics: San Diego, CA,12-16 Oct 2001.
Steffen, P, Dulmen, S van, Bensing, J, Beemer, FA & Ausems, MGEM. Communication styles during genetic counselling in case of hereditary cancer: a prospective observational study. 7th International Meeting on Psychosocial aspects of genetic testing for HBOC and HNPCC: Frankfurt, 27-28 Sept 2001.
Steffen, P, Dulmen, AM van, Bensing, JM, Beemer, FA & Ausems, MGEM. Outcomes of pre-test genetic counselling in case of hereditary breast cancer: a prospective observational and questionnaire study. Symposium on Community Genetics, Past and Future: Utrecht, 8 Nov 2001.
Terhal, PA, Nievelstein, RAJ, Sakkers, RJW & Beemer, FA. Multiple epiphyseal dysplasia and club foot due to homozygous mutation in the DTDST gene. 5th International Congress on Skeletal Dysplasias: Oxford, UK, 7-9 Sept 2001.
Tilburg, JHO van, Strengman, E, Pearson, PL, Sandkuijl, LA, Haeften, TW van & Wijmenga, C (2001) First results of a genome-wide scan in Dutch Caucasian sibpairs with type 2 diabetes mellitus. American Society of Human Genetics: San Diego, CA,12-16 Oct 2001.
Tilburg JHO van, Strengman E, van Someren H, Rigters-Aris CAE, Freriks JP, Pearson PL, Sandkuijl LA, van Haeften TW, Wijmenga C (2001) Are genes on chromosome 20 involved in type 2 diabetes mellitus in the Netherlands? Netherlands Journal of Medicine, 59, A1-A7.
Warlam-Rodenhuis, CC, Luijt, RB van der, Koot, VCM, Helvoirt, RP & Ausems, MGEM. Prevalence of risk factors for hereditary breast cancer in a thousand breast cancer patients receiving adjuvant radiotherapy, interest in genetic counselling and results of DNA analysis. American Society for Therapeutic Radiology and Oncology meeting: San Francisco, 4-7 Nov 2001.
Ausems, MGEM. Ben ter Haar prijs uitgereikt tijdens de VKGN vergadering, Utrecht, 21 June 2001.
Hennekam, FAM. Genealogical research in the Netherlands. Olive tree website, April 2001.
Tilburg, JHO van. Zitten, vet eten en de genen. U-blad, p. 7, 20 Dec 2001.
Wijmenga, C. TEMA interview over Diabetes. Nederlands radio programma TEMA, radio 5: Interview, 3 March 2001.