Publications 2000


Department of Human Genetics


2000

Publicaties in ref tijdschriften
Baumann U, Kohl J, Tschernig T, Schwerter-Strumpf K, Verbeek JS, Schmidt RE, Gessner JE. A codominant role of Fc gamma RI/III and C5aR in the reverse Arthus reaction. J Immunol, 164, 1065-1070, 2000.

Baysal BE Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey AGL, Taschner PEM, Rubinstein WS, Myers EN, Richard 3rd CW, Cornelisse CJ, Devilee P, Devlin B. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science, 287, 848-851, 2000.

Beer F de, Willems van Dijk JAP, Jong MC, van Vark LC, van der ZeeA, Hofker MH, Fallaux FJ, Hoeben RC, Smelt AH, Havekes LM. Apolipoprotein E2 (Lys146-->Gln) causes hypertriglyceridemia due to an apolipoprotein E variant-specific inhibition of lipolysis of very low density lipoproteins-triglycerides. Arterioscler ThrombVasc Biol, 20, 1800-1806, 2000.

Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning MH, Dauwerse JG, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nature Genet, 25, 228-231, 2000.

Berns EM, Foekens JA, Vossen RHAM, Look MP, Devilee P, Henzen-Logmans SC, van Staveren IL, van Putten WL, Inganas M, Meijer-van Gelder ME, Cornelisse CJ, Claassen CJ, Portengen H, Bakker B, Klijn JG. Complete sequencing of TP53 predicts poor response to systemic therapy of advanced breast cancer. Cancer Res, 60, 2155-2162, 2000.

Bezrookove V, Hansson KBM, van den Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant JCAG, Beverstock GC, Raap AK, Tanke HJ, Breuning MH, Rosenberg C. Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet, 106, 392-398, 2000.

Bonsing BA, Corver WE, Fleuren GJ, Cleton-Jansen AM, Devilee P, Cornelisse CJ. Allelotype analysis of flow-sorted breast cancer cells demonstrates genetically related diploid and aneuploid subpopulations in primary tumors and lymph node metastases. Genes Chromosomes Cancer, 28, 173-183, 2000.

Boomsma DI, de Knijff P, Kaptein A, Labeur C, Martin NG, Havekes LM, Princen HM. The effect of apolipoprotein(a)-, apolipoprotein E-, and apolipoprotein A4- polymorphisms on quantitative lipoprotein(a) concentrations. Twin Res, 3, 152-158, 2000.

Bouffler SD, Hofland N, Cox R, Fodde R. Evidence for msh2 haploinsufficiency in mice revealed by MNU-induced sister-chromatid exchange analysis. Br J Cancer, 83, 1291-1294, 2000.

Breuning MH, Oranje AP, Langemeijer RA, Hovius SE, Diepstraten AFM, den Hollander JC, Baumgartner N, Dwek JR, Sommer A, Toriello H. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations. Am J Med Genet, 94, 91-101, 2000.

Breuning MH, Romijn JA. Van gen naar ziekte: introductie. Ned Tijdschr Geneeskd, 144, 1724-1725, 2000.

Breuning MH, Bakker E. Van gen naar ziekte; basisbegrippen. Ned Tijdschr Geneeskd,144, 1725-1728, 2000.

Breuning MH, Bakker E. Van gen naar ziekte; marenostrine en familiale mediterrane koorts. Ned Tijdschr Geneeskd, 144, 1728-1730, 2000.

Broeks A, Urbanus JH, Floore AN, Dahler EC, Klijn JG, Rutgers EJ, Devilee P, Russell NS, Leeuwen FE, van t Veer LJ. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet, 66, 494-500, 2000.

Bronfman FC, Tesseur I, Hofker MH, Havekes LM, van Leuven F. No evidence for cholinergic problems in apolipoprotein E knockout and apolipoprotein E4 transgenic mice. Neuroscience, 97, 411-418, 2000.

Cortegano I, del Pozo V, Cardoba B, Arrieta I, Gallardo S, Rojo M, Aceituno E, Takai T, Verbeek JS, Palomino P, Liu FT, Lahoz C. Interaction between galactin-3 and FcgammaRII induces downregulation of IL-5 gene: implications of the promotor sequence IL-5REIII. Glycobiology 10, 237-242, 2000.

Couture J, Mitri A, Lagace R, Smits MJM, Berk T, Bouchard HL, Fodde R, Alman B, Bapat B. A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. Clin Genet, 57, 205-212, 2000.

Devilee P. The Breast Cancer Information Core: database design, structure and scope. Hum Mutat, 16, 123-131, 2000.

Devilee P, van Eijk R. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet, 67, 207-212, 2000.

Devilee P, Tollenaar RAEM , Cornelisse CJ. Van gen naar ziekte: van BRCA1 of BRCA2 naar borst kanker. Ned Tijdschr Geneeskd, 144, 2549-2551, 2000.

Dunnen JT den, Antonorakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut, 15, 7-12, 2000.

Dijk MA van, Breuning MH, Peters DJM, Chang PC. The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease. Nephrol Dialysis Transplant, 15, 836-839, 2000.

Dijk MA van, Hogewind BL, Breuning MH, Rinkel GJ. Intracraniale aneurysmen en autosomale dominante polycysteuze nierziekte. Ned Tijdschr Geneeskd, 144, 1280-1283, 2000.

Eck-Smaling MM van, de Winther MPJ, Herijgers N, Havekes LM, Hofker MH, Groot PH, van Berkel TJC. Effect of human scavenger receptor class A overexpression in bone marrow-derived cells on cholesterol levels and atherosclerosis in ApoE-deficient mice. Arterioscler Thromb Vasc Biol, 20, 2600-2606, 2000.

Eck-Smaling MM van, Herijgers N, Willems van Dijk JAP, Havekes LM, Hofker MH, Groot PH, van Berkel TJC. Effect of macrophage-derived mouse ApoE, human ApoE3-Leiden, and human ApoE2 (Arg158Cys) on cholesterol levels and atherosclerosis in ApoE-deficient mice. Arterioscler Thromb Vasc Biol, 20, 119-127, 2000.

Fidalgo P, Almeida MR, West S, Cardoso Gaspar C S, Maia L, Wijnen JT, Albuquerque C, Curtis A, Cravo M, Fodde R, Leitao CN, Burn J. Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. Eur J Hum Genet, 8, 49-53, 2000.

Fossati-Jimack L, Ioan Facsinay A, Reiniger L, Chicheportiche Y, Watanabe N, Saito T, Hofhuis FM, Gessner JE, Schiller C, Schmidt RE, Honjo T, Verbeek JS, Izui S. Markedly different pathogenicity of four immunoglobulin G isotype-switch variants of an antierythrocyte autoantibody is based on their capacity to interact in vivo with the low-affinity Fcgamma receptor III. J Exp Med, 191, 1293-1302, 2000.

Geel M van, van Deutekom JCT, van Staalduinen AA, Lemmers RJLF, Dickson MC, Hofker MH, Padberg GW, Hewitt JE, de Jong PJ, Frants RR. Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet Cell Genet, 88, 316-321, 2000.

Ginjaar HB, Kneppers ALJ, van der Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JCT, Weegenaar J, den Dunnen JT, Bakker E. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet, 8, 793-796, 2000.

Ginjaar HB, van der Kooi AJ, Ceelie H, Kneppers ALJ, van Meegen M, Barth PG, Busch HF, Wokke JHJ, Anderson LV, Bonneman CG, Jeanpierre M, Bolhuis PA, Moorman AFM, de Visser M, Bakker E, van Ommen GJB. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol, 247, 524-529, 2000.

Giordano PC, Harteveld CL. Chromatographic measurements of memoglobin A2 in blood samples containing sickle hemoglobin. Ann Clin Lab Sci, 30, 430-431, 2000.

Giordano PC, Breuning MH. Van gen naar ziekte; van hemoglobinegenen naar thalassemie en sikkelcelanemie. Ned Tijdschr Geneeskd, 51, 2481-2481, 2000.

Graaf J de, Hoffer M, Stuyt PM, Frants RR, Stalenhoef AF. Familial chylomicronemia caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCII gene and the first APOCIV gene mutation: APOCII-CIV(Nijmegen). Biochem Biophys Res Commun, 273, 1084-1087, 2000.

Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC. Alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene. Br J Haematol, 110, 694-698, 2000.

Hateboer N, Veldhuisen B, Peters DJM, Breuning MH, San-Millan JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D. Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int, 57, 1444-1451, 2000.

Herijgers N, de Winther MPJ, van Eck-Smaling MM, Havekes LM, Hofker MH, Hoogerbrugge PM, van Berkel TJC. Effect of human scavenger receptor class A overexpression in bone marrow-derived cells on lipoprotein metabolism and atherosclerosis in low density lipoprotein receptor knockout mice. J Lipid Res, 41, 1402-1409, 2000.

Hoffer M, Snieder H, Bredie SJH, Demacker PNM, Kastelein JJP, Frants RR, Stalenhoef AF. The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. Atherosclerosis, 151, 443-450, 2000.

Hoogerwaard EM, Ginjaar HB, Wilde AA, Leschot NJ, de Voogt WG, de Visser M. Het hartzeer van een spierdystrofie. Ned Tijdschr Geneeskd, 144, 2181-2184, 2000.

Horner AA, Nguyen MD, Ronaghy A, Cinman N, Verbeek JS, Raz E. DNA-based vaccination reduces the risk of lethal anaphylactic hypersensitivity in mice. J Allergy Clin Immunol, 106, 49-356, 2000.

Ittersum FJ van, de Man AM, Thijssen S, de Knijff P, Slagboom PE, Smulders Y, Tarnow L, Donker AJ, Bilo HJ, Stehouwer CD. Genetic polymorphisms of the renin-angiotensin system and complications of insulin-dependent diabetes mellitus. Nephrol Dialysis Transplant, 15, 1000-1007, 2000.

Kayser M, Roewer L, Hedman M, Henke J, Brauer S, Kruger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff, P, Stoneking M, Sajantila A. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet, 66, 1580-1588, 2000.

Kerkhoffs JL, Harteveld CL, Wijermans PW, van Delft P, Haak HL, Bernini LF, Giordano PC. Very mild pathology in a case of Hb S/beta0-thalassemia in combination with a homozygosity for the alpha-thalassemia 37 kb deletion. Hemoglobin, 24, 259-263, 2000.

Knijff P de. Messages through bottlenecks: On the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. Am J Hum Genet, 67, 1055-1061, 2000.

Kooi AJ van der, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JHJ, Bakker E, de Visser M. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry, 69, 114-116, 2000.

Leeuw WJF de, Dierssen JWL, Vasen HFA, Wijnen JT, Kenter GG, Meijers-Heijboer H, Brocker-Vriends A, Stormorken A, Moller P, Menko F, Cornelisse CJ, Morreau H. Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients. J Pathol, 192, 328-335, 2000.

Looij M van der, Cleton-Jansen AM, van Eijk R, Morreau H, van Vliet M, Kuipers-Dijkshoorn NJ, Olah E, Cornelisse CJ, Devilee P. A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1. Genes Chromosomes Cancer, 27, 295-302, 2000.

Looij M van der, Szabo C, Besznyak I, Liszka G, Csokay B, Pulay T, Toth J, Devilee P, King MC, Olah E. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer, 86, 737-740, 2000.

Luijt RB van der, Tops CJM, Vasen HF. Van gen naar ziekte; het APC-gen en familiaire adenomateuze polyposis. Ned Tijdschr Geneeskd, 144, 2007-2009, 2000.

Maarel SM van der, Deidda G, Lemmers RJLF, van Overveld PGM, van der Wielen MJR, Hewitt JE, Sandkuijl LA, Bakker E, van Ommen GJB, Padberg GW, Frants RR. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet, 66, 26-35, 2000.

Maat-Kievit A, Vlis MV, Zoeteweij M, Losekoot M, van Haeringen A, Roos RAC. Paradox of a better test for Huntington's disease. J Neurol Neurosurg Psychiatry, 69, 579-583, 2000.

Mensenkamp AR, Luyn MJ, van Goor H, Bloks V, Apostel F, Greeve J, Hofker MH, Jong MC, van Vlijmen BJM, Havekes LM , Kuipers F. Hepatic lipid accumulation, altered very low density lipoprotein formation and apolipoprotein E deposition in apolipoprotein E3-Leiden transgenic mice. J Hepatol, 33, 189-198, 2000.

Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, Seynaeve C, Tilanus-Linthorst MM, Wagner A, Dukel L, Devilee P, van den Ouweland AM, van Geel AN, Klijn JG. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet, 355, 2015-2020, 2000.

Neale MC, de Knijff P, Havekes LM, Boomsma DI. ApoE polymorphism accounts for only part of the genetic variation in quantitative ApoE levels. Genet Epidemiol, 18, 331-340, 2000.

Ommen GJB van. 2000: promises and plans. Eur J Hum Genet, 8, 1, 2000.

Ommen GJB van. Human genetics in health care. Eur J Pediatr, 159, 170-172, 2000.

Overveld PGM van, Lemmers RJLF, Deidda G, Sandkuijl LA, Padberg GW, Frants RR, van der Maarel SM. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet, 9, 2879-2884, 2000.

Papelard H, de Bock GH, van Eijk R, van Vliet M, Vlieland TPM, Cornelisse CJ, Devilee P, Tollenaar RAEM. Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. Br J Cancer, 83, 719-724, 2000.

Peelen T, de Leeuw WJF, van Lent K, Morreau H, van Eijk R, van Vliet M, Wijnen JT, Ligtenberg M, Ginjaar HB, Zweemer R, Menko F, Fodde R, van Ommen GJB, Vasen HFA, Cornelisse CJ, Devilee P. Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis. Int J Cancer, 88, 778-782, 2000.

Peelen T, van Vliet M, Bosch A, Bignell G, Vasen HFA, Klijn JG, Meijers-Heijboer H, Stratton M, van Ommen GJB, Cornelisse CJ, Devilee P. Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. Br J Cancer, 82, 151-156, 2000.

Petrij F, Dauwerse JG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM, Breuning MH. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet, 37, 168-176, 2000.

Petrij F, Dorsman JC, Dauwerse JG, Giles RH, Peeters T, Hennekam RCM, Breuning MH, Peters DJM. Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q363;p133). Am J Med Genet, 92, 47-52, 2000.

Pirc-Danoewinata H, Dauwerse JG, Konig M, Chudoba I, Mitterbauer M, Jager U, Breuning MH, Haas OA. CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16. Genes Chromosomes Cancer, 29, 186-191, 2000.

Plomp JJ, Vergouwe MN, van den Maagdenberg AMJM, Ferrari MD, Frants RR, Molenaar PC. Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca2+ channel mutation. Brain, 123, 463-471, 2000.

Rahman N, Teare MD, Seal S, Renard H, Mangion J, Cour C, Thompson D, Shugart YY, Eccles D, Devilee P, Meijers H, Nathanson KL, Neuhausen S, Weber B, Chang-Claude J, Easton D, Goldgar D, Stratton MR. Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22. Oncogene, 19, 4170-4173, 2000.

Roewer L, Kayser M, de Knijff P, Anslinger K, Betz A, Caglia A, Corach D, Furedi S, Henke L, Hidding M, Kargel HJ, Lessig R, Nagy M, Pascali VL, Parson W, Rolf B, Schmitt C, Szibor R, Teifel-Greding J, Krawczak M. A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in european males. Forensic Sci Int, 114, 31-43, 2000.

Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Corte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Golge M, Hill EW. Y-Chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet, 67, 1526-1543, 2000.

Rijke FM van de, Florijn RJ, Tanke HJ, Raap AK. DNA Fiber-FISH staining mechanism. J Histochem Cytochem, 48, 743-745, 2000.

Santos FR, Pandya A, Kayser M, Mitchell RJ, Liu A, Singh L, Destro-Bisol G, Novelletto A, Qamar R, Mehdi SQ, Adhikari R, de Knijff P, Tyler-Smith C. A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome. Hum Mol Genet, 9, 421-430, 2000.

Scheffers MS, van der Bent P, Prins F, Spruit EJM, Breuning MH, Litvinow S, de Heer E, Peters DJM. Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells. Hum Mol Genet, 9, 2743-2750, 2000.

Siesling S, Vegter-van de Vlis M, Losekoot M, Belfroid RDM, Maat-Kievit JA, Kremer HPH, Roos RAC. Family history and DNA analysis in patients with suspected Huntington's disease. J Neurol Neurosurg Psychiatry, 69, 54-59, 2000.

Smagt JJ van der, Beverstock GC, Breuning MH, Kanhai HHH, Vandenbussche FP. Assessment of prenatal karyotypes. Hum Reprod, 15, 228-230, 2000.

Tacken PJ, Teusink B, Jong MCM, Harats D, Havekes LM, Willems van Dijk JAP, Hofker MH. LDL receptor deficiency unmasks altered VLDL triglyceride metabolism in LDL receptor transgenic and knockout mice. J Lipid Res, 41, 2055-2062, 2000.

Smits MJM, Ruiz P, Diaz-Cano S, Luz A, Jagmohan-Changur SC, Breukel C, Birchmeier C, Birchmeier W, Fodde R. E-cadherin and adenomatous polyposis coli mutations are synergistic in intestinal tumor initiation in mice. Gastroenterology 119, 1045-1053, 2000.

Smits MJM, Hofland N, Edelmann W, Geugien M, Jagmohan-Changur SC, Albuquerque C, Breukel C, Kucherlapati R, Kielman MF, Fodde R. Somatic apc mutations are selected upon their capacity to inactivate the beta-catenin downregulating activity. Genes Chromosomes Cancer, 29, 229-239, 2000.

Spieker N, Beitsma M, van Sluis P, Roobeek I, den Dunnen JT, Speleman F, Caron H, Versteeg R. An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p361 region implicated in neuroblastoma pathogenesis. Genes Chromosomes Cancer, 27, 143-152, 2000.

Stec I, Nagl SB, van Ommen GJB, den Dunnen JT. The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? Febs Letts, 473, 1-5, 2000.

Sijbrands EJG, Westendorp RGJ, Lombardi P, Havekes LM, Frants RR, Kastelein JJP, Smelt AHM. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. Atherosclerosis, 149, 421-425, 2000.

Sijmons R, Hofstra R, Hollema H, Mensink R, van der Hout A, Hoekstra H, Kleibeuker J, Molenaar W, Wijnen JT, Fodde R, Vasen HFA, Buys CHCM. Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer. Genes Chromosomes Cancer, 29, 353-355, 2000.

Tacken PJ, Beer FD, Vark LC, Havekes LM, Hofker MH, Willems van Dijk JAP. Very-low-density lipoprotein binding to the apolipoprotein E receptor 2 is enhanced by lipoprotein lipase, and does not require apolipoprotein E. Biochem J, 347, 357-361, 2000.

Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Vloten WA, Breuning MH, van den Ouweland A, Halley DJJ, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Gorog JP, Seal S , Mangion J. Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Hum Genet, 106, 58-65, 2000.

Vasen HF, Gruis NA, Frants RR, van der Velden PAr, Hille ET, Bergman W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer, 87, 809-811, 2000.

Willems van Dijk JAP, Hofker MH, Havekes LM. Use of transgenic mice to study the role of apolipoprotein E in lipid metabolism and atherosclerosis. Int J Tissue React, 22, 49-58, 2000.

Winther MPJ de, Willems van Dijk JAP, Havekes LM, Hofker MH. Macrophage scavenger receptor class A: A multifunctional receptor in atherosclerosis. Arterioscler Thromb Vasc Biol, 20, 290-297, 2000.

Winther MPJ de, Hofker MH. Scavenging new insights into atherogenesis. J Clin Invest, 105, 1039-1041, 2000.

Winther MPJ de, Gijbels MJJ, Willems van Dijk JAP, Havekes LM, Hofker MH. Transgenic mouse models to study the role of the macrophage scavenger receptor class A in atherosclerosis. Int J Tissue React, 22, 85-91, 2000.

Andere academische publicaties
Knijff P de. Y chromosomes shared by descent or by state. In: Renfrew C, Boyle K (ed). Archaeogenetics: DNA and the population prehistory of Europe, pp. 301-304, 2000. ISBN 190-293-708-2

Gerefereerde conferenties
Roewer L, Kayser M, Anslinger K, Augustin C, Caglia A, Corach D, Furedi S, Geserik G, Henke L, Hidding M, Kargel HJ, de Knijff P, Lessig R, Pascali V, Parson W, Prinz M, Rolf B, Schmitt C, Schneider P, Szibor R, Teifel-Greding J , Krawczak M. Caucasian Y-STR haplotype reference database for forensic application. In: Sensabaugh GF, Lincoln PJ, Olaisen B (ed). Progress in forensic genetics 8, pp. 613-615, 2000. ISBN 0-444-50303

Proefschriften
M'charek A. Technologies of similarities and differences On the interdependence of nature and technology in the Human Genome Diversity project. Co-promotor: GJB van Ommen.

Petrij F. Molecular analysis of the Rubinstein-Taybi syndrome. Promotoren: MH Breuning, GJB van Ommen. 1997.

Veldhuisen B. The identification and molecular analysis of the PKD2 gene. Promotoren: GJB van Ommen, MH Breuning. 1997.