Publications 2002


Department of Human Genetics


2002

Publicaties in ref. tijdschriften
Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJB, van Deutekom JCT. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord, 12, 71-77, 2002.

Aken MO van, de Craen AJ, Gussekloo J, Moghaddam PH, Vandenbroucke JP, Heijmans BT, Slagboom PE, Westendorp RG. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study. Eur J Clin Invest, 32, 750-754, 2002.

Albuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ, Leitao CN, Fodde R, Smits R. The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade. Hum Mol Genet, 11, 1549-1560, 2002.

Asperen CJ van, van Dijk S, Zoeteweij MW, Timmermans DR, de Bock GH, Meijers-Heijboer EJ, Niermeijer MF, Breuning MH, Kievit J, Otten W. What do women really want to know? Motives for attending familial breast cancer clinics. J Med Genet, 39, 410-414, 2002.

Azeredo da Silveira S, Kikuchi S, Fossati- Jimack L, Moll T, Saito T, Verbeek JS, Botto M, Walport MJ, Carroll M, Izui S. Complement activation selectively potentiates the pathogenicity of the IgG2b and IgG3 isotypes of a high affinity anti-erythrocyte autoantibody. J Exp Med, 195, 665-672, 2002.

Boer JM, de Meijer E, Mank EM, van Ommen GJB, den Dunnen JT. Expression profiling in stably regenerating skeletal muscle of dystrophin-deficient mdx mice. Neuromuscul Disord, 12, 118-124, 2002.

Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, de Knijff P, Jobling MA. High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int, 125, 42-51, 2002.

Breuning MH. Fenotypische variabiliteit: genetica en toeval - deletie 22q11 en schizofrenie. Ned Tijdschr Geneeskd, 146, 2016-2019, 2002.

Callenbach PM, de Coo RE, Vein AA, Arts WF, Oosterwijk J, Hageman G, ten Houten R, Terwindt GM, Lindhout D, Frants RR, Brouwer OF. Benign familial infantile convulsions: a clinical study of seven Dutch families. Eur J Paediatr Neurol, 6, 269-283, 2002.

Dauwerse JG, Bouman K, van Essen AJ, van der Hout AH, Kolsters G. Breuning MH, Peters DJ. Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. J Med Genet, 39, 136-141, 2002.

Dauwerse JG, de Die-Smulders CE, Bakker E, Breuning MH, Peters DJ. Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect. J Med Genet 39, 686-688, 2002.

Diaz de Stahl T, Andren M, Martinsson P, Verbeek JS, Kleinau S. Expression of FcgammaRIII is required for development of collagen-induced arthritis. Eur J Immunol, 32, 2915-2922, 2002.

Dirks A, Groenink, L, Bouwknecht JA, Hijzen TH, van der Gugten J, Ronken E, Verbeek JS, Veening JG, Dederen PJ, Korosi A, Schollderman LF, Roubos EW, Olivier B. Overexpression of corticotropin-releasing hormone in transgenic mice and chronic stress-like autonomic and physiological alterations. Eur J Neurosci, 16, 1751-1760, 2002.

Dorsman JC, Bremmer-Bout M, Pepers B, van Ommen GJB, den Dunnen JT. Interruption of perfect CAG repeats by CAA triplets improves the stability of glutamine-encoding repeat sequences. Biotechniques, 33, 976-978, 2002.

Dorsman JC, Pepers B, Langenberg D, Kerkdijk H. IJszenga M. den Dunnen JT, Roos RA, van Ommen GJB. Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells. Hum Mol Genet, 15, 1487-1496, 2002.

Dunnen JT den, de Visser M, Bakker E. Van gen naar ziekte; het dystrofine gen betrokken bij Duchenne en Bekcer spierdystrofie. Ned Tijdschr Geneeskd, 146, 364-367, 2002.

Elion-Gerritzen WE, Giordano PC, Haak HL. De standaard 'Anemie in de eerstelijns verloskundige praktijk' van de Koninklijke Nederlandse Organisatie van Verloskundigen (KNOV): risico voor het niet onderkennen van ijzergebrek en hemoglobinopathie. Ned Tijdschr Geneeskd, 146, 457-459, 2002

Fodde R. The APC gene in colorectal cancer. Eur J Cancer 38, 867-871, 2002.

Fodde R, Smits R. Cancer biology. A matter of dosage. Science, 298, 761-763, 2002.

Geel M van, Dickson MC, Beck AF. Boilland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics, 79, 210-217, 2002.

Geel M van, Eichler EE, Beck AF, Shan Z, Haaf T, van der Maarel SM, Frants RR, de Jong PJ. A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. Am J Hum Genet, 70, 269-278, 2002.

Gille JJ, Hogervorst FB, Pals G, Wijnen JT, van Schooten RJ, Dommering CJ, Meijer GA, Craanen ME, Nederlof PM, de Jong D, McElgunn CJ, Schouten JP, Menko FH. Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br J Cancer, 87, 892-897, 2002.

Giordano PC. Diagnosis of Hb-pathies. Eur J Hum Genet, 10, 672, 2002.

Golan I, Baumert U, Wagener H, Dauwerse J, Preising M, Lorenz B, Niederdellmann H, Mussig D. Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis. Orthod Craniofac Res, 5, 243-249, 2002.

Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgolff I, Stein J, Chan YM, Lidov HG, Bonnemann CG, Von Moers A, Morris GE, den Dunnen JT, Chamberlain JS, Kunkel LM, Weinberg K. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest, 110, 807-814, 2002.

Harteveld CL, van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC. Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin, 26, 255-260, 2002.

Harteveld CL, van Delft P, Plug RJ, Erjavec Z, Wajcman H, Giordano PC. Hb Delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient. Hemoglobin, 26, 181-184, 2002.

Harteveld CL, Muglia M, Passarino G, Kielman MF, Bernini LF. Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster. Br J Haematol, 119, 848-854, 2002.

Havenga MJ, Lemckert AA, Oophorst OJ, van Meijer M, Germeraad WT, Grimbergen J, van den Doel MA, Vogels R, van Deutekom J, Janson AA, de Bruijn JD, Uytdehaag F, Quax PH, Logtenberg T, Mehtali M, Bout A. Exploiting the natural diversity in adenovirus tropism for therapy and prevention of disease. J Virol, 76, 4612-4620, 2002.

He B, Giedraitis V, Ligers A, Binzer M, Andersen PM, Forsgren L, Sandkuijl LA, Hillert J. Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11. Eur J Hum Genet, 10, 271-275, 2002.

Hoya M de la, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodriguez R, Diaz-Rubio E, Benitez J, Devilee P, Caldes T. Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. Int J Cancer, 97, 466-471, 2002.

Hulsman CA, Willemse-Assink JJ, de Jong PT, Lettink M, Sandkuijl LA, Bergen AA. Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population. Clin Genet, 61, 160-162, 2002.

Ioan-Facsinay A, de Kimpe SJ, Hellwig SM, van Lent PL, Hofhuis FM, van Ojik HH, Sedlik C, da Silveira SA, Gerber J, de Jong YF, Roozendaal R, Aarden LA, van den Berg WB, Saito T, Mosser D, Amigorena S, Izui S, van Ommen GJB, van Vugt M, van de Winkel JG, Verbeek JS. FcgammaRI (CD64) contributes substantially to severity of arthritis, hypersensitivity responses, and protection from bacterial infection. Immunity, 16, 391-402, 2002.

Ji H, Ohmura K, Mahmood U, Lee DM, Hofhuis FM, Boackle SA, Takahashi K, Holers VM, Walport M, Gerard C, Ezekowitz A, Carroll MC, Brenner M, Weissleder R, Verbeek JS, Duchatelle V, Degott C, Benoist C, Mathis D. Arthritis critically dependent on innate immune system players. Immunity, 16, 157-168, 2002.

Karimi M, Yarmohammadi H, Farjadian S, Zeinali S, Moghaddam Z, Cappellini MD, Giordano PC. Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele. Hemoglobin, 26, 147-154, 2002.

Kielman MF, Ridanpaa M, Gaspar C, van Poppel N, Breukel C, van Leeuwen S, Taketo MM, Roberts S, Smits R, Fodde R. Apc modulates embryonic stem-cell differentiation by controlling the dosage of beta-catenin signaling. Nat Genet, 32, 594-605, 2002.

Kors EE, van den Maagdenberg AA, Plomp JJ, Frants RR, Ferrari MD. Calcium channel mutations and migraine. Curr Opin Neurol, 15, 311-316, 2002.

Lachmeijer AM, Nosti-Escanilla MP, Bastiaans EB, Pals G, Sandkuijl LA, Kostense PJ, Aarnoudse JG, Crusius JB, Pena AS, Dekker GA, Arngrimsson R, ten Kate LP. Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia. Hypertens Pregnancy, 21, 23-38, 2002.

Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJB, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet, 32, 235-236, 2002.

Maagdenberg AM van den, Kors E, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD. Episodic ataxia type 2 Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. J Neurol, 249, 1515-1519, 2002.

Maassen JA, Biberoglu S, ít Hart LM, Bakker E, de Knijff P. A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness. Arch Physiol Biochem, 110, 186-188, 2002.

Maat-Kievit A, Losekoot M, Zwinderman K, Vegter-van der Vlis M, Belfroid R, Lopez F, van Ommen GJB, Breuning M, Roos R. Predictability of age at onset in Huntington disease in the Dutch population. Medicine, 81, 251-259, 2002.

Meijers-Heiboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet, 31, 55-59, 2002.

Njajou OT, de Jong G, Berghuis B, Vaessen N, Snijders PJ, Goossens JP, Wilson JH, Breuning MH, Oostra BA, Heutink P, Sandkuijl LA, van Duijn CM. Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. Blood Cells Mol Dis, 29, 439-443, 2002.

Ommen GJB van. New initiatives from EJHG, ESHG and Nature Publishing Group. Eur J Hum Genet, 10, 575, 2002.

Ommen GJB van. The Human Genome Project and the future of diagnostics, treatment and prevention. J Inherit Metab Dis, 25, 183-188, 2002.

Ophoff RA, Escamilla MA, Service SK, Spesny M, Meshi DB, Poon W, Molina J, Fournier E, Gallegos A, Mathews C, Neylan T, Batki SL, Roche E, Ramirez M, Silva S, De Mille MC, Dong P, Leon PE, Reus VI, Sandkuijl LA, Freimer NB. Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. Am J Hum Genet, 71, 565-574, 2002.

Park JG, Vasen HF, Park YJ, Park KJ, Peltomaki P, de Leon MP, Rodriquez-Bigas MA, Lubinski J, Beck NE, Bisgaard ML, Miyaki M, Wijnen JT, Baba S, Lindblom A, Madlensky L, Lynch HT. Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study. Int J Colorectal Dis, 17, 109-114, 2002.

Pauw ES de, Otto SA, Wijnen JT, Vossen JM, van Weel MH, Tanke HJ, Miedema F, Willemze R, Roelofs H, Fibbe WE. Long-term follow-up of recipients of allogeneic bone marrow grafts reveals no progressive telomere shortening and provides no evidence for haematopoietic stem cell exhaustion. Br J Haematol, 116, 491-496, 2002.

Rea R, Tijssen MA, Herd C, Frants RR, Kullmann DM. Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. Eur J Neurosci, 16, 186-196, 2002.

Redd AJ, Agellon AB, Kerneay VA, Contreras VA, Karafet T, Park H, de Knijff P, Buteler JM, Hammer MF. Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int, 130, 97-111, 2002.

Redegeld FA, van der Heijden MW, Kool M, Heijdra BM, Garssen J, Kraneveld AD, van Loveren H, Roholl P, Saito T, Verbeek JS, Claassens J, Koster AS, Nijkamp EP. Immunoglobulin-free light chains elicit immediate hypersensitivity-like responses. Nat Med, 8, 694-701, 2002.

Reiterova J, Stekrova J, Peters DJ, Kapras J, Kohoutova M, Merta M, Zidovska J. Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. Hum Mutat, 19, 573, 2002.

Reijden BA van der, Simons A, Luiten E, van der Poel SC, Hogenbirk PE, Tonnissen E, Valk PJ, Lowenberg B, de Greef GE, Breuning MH, Jansen JH. Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion. Br J Haematol, 118, 411-418, 2002.

Ruivenkamp CA, van Wezel T, Zanon C, Stassen AP, Vlcek C, Csikos T, Klous AM, Tripodis N, Perrakis A, Boerrigter L, Groot PC, Lindeman J, Mooi WJ, Meijer GA, Scholten G, Dauwerse H, Paces V, van Zandwijk N, van Ommen GJB, Demant P. Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers. Nat Genet, 31, 295-300, 2002.

Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E, Peters DJ. Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells. Hum Mol Genet, 11, 59-67, 2002.

Schuurhuis DH, Ioan-Facsinay A, Nagelkerken B, van Schip JJ, Sedlik C, Melief CJ, Verbeek JS, Ossendorp F. Antigen-antibody immune complexes empower dendritic cells to efficiently prime specific CD8+ CTL responses in vivo. J Immunol, 168, 2240-2246, 2002.

Sterrenburg E, Turk R, Boer JM, van Ommen GJB, den Dunnen JT. A common reference for cDNA microarray hybridizations. Nucleic Acids Res, 1, 116, 2002.

Tacken PJ, Delsing DJ, Gijbels MJ, Quax PH, Havekes LM, Hofker MH, Willems van Dijk K. VLDL receptor deficiency enhances intimal thickening after vascular injury but does not affect atherosclerotic lesion area. Atherosclerosis, 162, 103-110.

Taschner PEM, BrŲcker-Vriends AHJT, van der Mey AGL.Van gen naar ziekte; van SDHD, een defect in de ademhalingsketen, naar paragangliomen en feochromocytomen. Ned Tijdschr Geneeskd, 49, 2188-2190, 2002.

Terwindt G, Kors E, Haan J, Vermeulen F, van den Maagdenberg A, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Arch Neurol, 59, 1016-1018, 2002.

Thompson D, Szabo CI, Mangion J, Oldenburg R, Odefrey F, Seal S, Barfoot R, Kroeze-Jansema K, Teare D, Rahman N, Renard H, Mann G, Hopper JL, Buys SS, Andrulis IL, Senie R, Daly MB, West D, Ostrander EA, Offit K, Peretz T, Osorio A, Benitez J, Nathanson KL, Sinilnikova OM, Olah E, Bignon YJ, Ruiz P, Badzioch MD, Vasen HF, Futreal AP, Phelan CM, Narod SA, Lynch HT, Ponder BA, Eeles RA, Meijers-Hejboer H, Stoppa-Lyonnet D, Couch FJ, Eccles DM, Evans DG, Chang-Claude J, Lenoir G, Weber BL, Devilee P, Easton DF, Gldgar DE, Stratton MR. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium. Proc Natl Acad Sci, 99, 827-831, 2002.

Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P. Major and minor form of hereditary hyperekplexia. Mov Disord, 17, 826-830, 2002.

Vries BB de, Breedveld GJ, Deelen WH, Breuning MH, Niermeijer MF, Heutink P. Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. Am J Med Genet, 111, 443-445, 2002.

Wagner A, van der Klift H, Franken P, Wijnen J, Breukel C, Bezrookove V, Smits R, Kinarsky Y, Barrows A, Franklin B, Lynch J, Lynch H, Fodde R. A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. Genes Chromosomes Cancer, 35, 49-57, 2002.

Wagner A, Tops C, Wijnen JT, Zwinderman K, van der Meer C, Kets M, Niermeijer MF, Klijn JG, Tibben A, Vasen HF, Meijers-Heijboer H. Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. J Med Genet, 39, 833-837, 2002.

Wenning MR, Harteveld CL, Giordano PC, Kimura EM, Saad ST, Costa FF, Sonati ME. Hemoglobin H disease resulting from the association of the - alpha 3.7 rightward deletion and the (alpha alpha)MM deletion in a Brazilian patient. Eur J Haematol, 69, 179-181, 2002.

White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJB, Breuning MH, den Dunnen JT. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet, 71, 365-374, 2002.

Witjes-Ane MN, Zwinderman AH, Tibben A, van Ommen GJB, Roos RA. Behavioural complaints in participants who underwent predictive testing for Huntington's disease. J Med Genet, 39, 857-862, 2002.

Zorai A, Harteveld CL, Bakir A, van Delft P, Falfoel A, Dellagi K, Abbes S, Giordano PC. Molecular spectrum of alfa thalassemia in Tunesia: epidemiology and detection at birth. Hemoglobin, 26, 253-362, 2002.

Andere academische publicaties
Devilee P, van der Mey AGL, Cornelisse CJ. Hereditary paragangliomas of the head and neck. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Vogelstein B, Childs B, Kinzler KW (eds), The metabolic and molecular bases of inherited disease, part 4, scetion 5C40.1, 2002. ISBN 0079130356

Giordano PC. Hb-pathieŽn in immigranten populaties. De rol van verloskundige en huisarts bij primaire preventie. In: PAOG editie, Bloed en Zwangerschap, pp. 103-114, 2002. ISBN 90-373-648-9

Gerefereerde conferenties
Giordano PC. Preventie van cystische fibrose en Hb-pathie major in de huisarts praktijk. In: Springer MP (ed), Vorderingen en Praktijk, pp. 13-22, 2002. ISBN 90-6767-510-5

Ommen GJB van. Genome research: HUGO and future health care. Nutrition Today, 37, 211-214, 2002.

Proefschriften
Smits MJM. APC and cancer. It takes two to tango. (cum laude)
Promotoren: prof.dr. R. Fodde en G.J.B. van Ommen.

Wezel JT van. The genetic dissection of colon cancer susceptibility in the mouse.
Promotoren: prof.dr. G.J.B. van Ommen en P. Demant.