Publications 2003


Department of Human Genetics


2003

Publicaties in ref. tijdschriften
Aartsma-Rus A, Janson AA, Kaman WF, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet, 12, 907-914, 2003.

Asperen CJ van, Tollenaar RA, Krol-Warmerdam EM, Blom J, Hoogendoorn WE, Seynave CM, Brekelmans CT, Devilee P, Cornelisse CJ, Klijn JG, de Bock GH. Possible consequences of applying guidelines to healthy women with a family history of breast cancer. Eur J Hum Genet, 11, 633-636, 2003.

Ball LM, Lankester AC, Giordano PC, van Weel MH, Harteveld CL, Bredius RG, Smiers FJ, Egeler RM, Vossen JM. Paediatric allogeneic bone marrow transplantation for homozygous beta-thalassaemia, the Dutch experience. Bone Marrow Transplant 31, 1081-1087, 2003.

Beekman M, Heijmans BT, Martin NG, Whitfield JB, Pedersen NL, DeFaire U, Snieder H, Lakenberg N, de Knijff P, Frants RR, van Ommen GJ, Kluft V, Vogler GP, Slagboom PE, Boomsma DI. Two-locus linkage analysis applied to putative quantitative trait loci for lipoprotein (a) levels. Twin Res 6: 322-324, 2003.

Beekman M, Heijmans BT, Martin NG, Whitfield JB, Pedersen NL, DeFaire U, Snieder H, Lakenberg N, Suchiman HE, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Boomsma DI, Slagboom PE. Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population. Eur J Hum Genet, 11, 845-850, 2003.

Berns EM, Klijn JG, Look MP, Grebenchtchikov N, Vossen R, Peters H, Geurts-Moespot A, Portengen H, van Staveren IL, Meijer-Van Gelder ME, Bakker B, Sweep FC, Foekens JA. Combined vascular endothelial growth factor and TP53 status predicts poor response to tamoxifen therapy in estrogen receptor-positive advanced breast cancer. Clin Cancer Res, 9, 1253-1258, 2003.

Bezrookove V, Smits R, Moeslein G, Fodde R, Tanke HJ, Raap AK, Darroudi F. Premature chromosome condensation revisited: a novel chemical approach permits efficient cytogenetic analysis of cancers. Genes Chromosomes Cancer, 38, 177-186, 2003.

Bickmore WA, van der Maarel SM. Perturbations of chromatin structure in human genetic disease: recent advances. Hum Mol Genet, 12, R207-213, 2003.

Bock GH de, Tollenaar RA, Papelard H, Vliet Vlieland TP, Devilee P, Cornelisse CJ, Vandenbroucke JP. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst, 95, 1011-1012, 2003.

Boomsma DI, Princen HM, Frants RR, Gevers Leuven JA, Kempen HJ. Genetic analysis of indicators of cholesterol synthesis and absorption: lathosterol and phytosterols in Dutch twins and their parents. Twin Res, 6, 307-314, 2003.

Breuning MH, Hamdy NA. Van gen naar ziekte; SLC3A1, SLC7A9 en cystinurie. Ned Tijdschr Geneeskd, 147, 245-247, 2003.

Broeks A, Urbanus JH, de Knijff P, Devilee P, Nicke M, Klopper K, Dork T, Floore AN, van't Veer LJ. IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer. Hum Mutat, 21, 521-528, 2003.

Butz M, Koch MC, Muller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol, 250, 932-937, 2003.

Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, Lindhout D, Frants RR, Sandkuijl LA, Brouwer OF. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia, 44, 1298-1305, 2003.

Deutekom JC van, van Ommen GJ. Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet, 4, 774-783, 2003.

Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol, 201, 480-406, 2003.

Dunnen JT den, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat, 22, 181-182, 2003.

Dijk MA van, Breuning MH, Duiser R, van Es LA, Westendorp RG. No effect of enalapril on progression in autosomal dominant polycystic kidney disease. Nephrol Dial Transpl 18, 2314-2320, 2003.

Dijk S van, Otten W, Zoeteweij MW, Timmermans DR, van Asperen CJ, Breuning MH, Tollenaar RA, Kievit J. Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment. Br J Cancer, 88, 1675-1681, 2003.

Engels H. Ehrbrecht A, Zahn S, Bosse K, Vrolijk H. White S, Kalscheuer V, Hooevers JM, Schwanitz G, Propping P, Tanke HJ, Wiegant J, Raap AK. Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. Eur J Hum Genet 11, 643-651, 2003.

Essen AJ van, Mulder IM, van der Vlies P, van der Hout AH, Buys CH, Hofstra RM, den Dunnen JT. Detection of point mutation in dystrophin gene reveals somat and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet, 118, 296-298, 2003.

Fodde R. The multiple functions of tumour suppressors: it's all in APC. Nat Cell Biol, 5, 190-192, 2003.

Fujii T, Hamano Y, Ueda S, Akikusa B, Yamasaki S, Ogawa M, Saisho H, Verbeek JS, Taki S, Saito T. Predominant role of FcgammaRIII in the induction of accelerated nephrotoxic glomerulonephritis. Kidney Int, 64, 1406-1416, 2003.

Giordano PC. The effect of iron deficiency anemia on the levels of hemoglobin subtypes: possible consequences for clinical diagnosis. Clin Lab Haematol, 25, 203, 2003.

Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, Giordano PC. A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin. Br J Haematol, 120, 364-366, 2003.

Harteveld CL, van Lom K, Gomez Garcia EB, van Delft P, Giordano PC. The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect. Hemoglobin, 27, 49-51, 2003.

Harteveld CL, Osborne CS, Peters M, van der Werf S, Plug R, Fraser P, Giordano PC. Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion in a Dutch family. Br J Haematology, 122, 855-858, 2003.

Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol, 74, 99-103, 2003.

Helderman-van den Enden AT, Ginjaar HB, Kneppers AL, Bakker E, Breuning MH, de Visser M. Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. Neuromuscul Disord, 13, 317-321, 2003.

Hendriks Y, Franken P, Dierssen JW, de Leeuw W, Wijnen J, Dreef E, Tops C, Breuning M, Brocker-Vriends A, Vasen H, Fodde R, Morreau H. Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol, 162, 469-477, 2003.

Heijmans BT, Boer JM, Suchiman HE, Cornelisse CJ, Westendorp RG, Kromhout D, Feskens EJ, Slagboom PE. A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer. Cancer Res, 63, 1249-1253, 2003.

Hoen PA 't, de Kort F, van Ommen GJ, den Dunnen JT. Fluorescent labelling of cRNA for microarray applications. Nucleic Acids Res, 31, 20, 2003.

Hohenstein P, Fodde R. Of mice and (wo)men: genotpye-phenotype correlations in BRCA1. Hum Mol Genet, 12, R271-277, 2003.

Hohenstein P, Molenaar L, Elsinga J, Morreau H, van der Klift H, Struijk A, Jagmohan-Changur S, Smits R, van Kranen H, van Ommen GJ, Cornelisse C, Devilee P, Fodde R. Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene. Genes Chromosomes Cancer, 36, 273-282, 2003.

Hulsmann AR, Hofstra WB, Brinkman JG, van der Wielen MJ, Bakker E, Oudesluys-Murphy AM. Turkse kinderen met recidiverende buikpijn en koorts: familiale mediterrane koorts. Ned Tijdschr Geneeskd, 7, 147, 1097-1100, 2003.

Jagmohan-Changur S, Poikonen T, Vilkki S, Launonen V, Wikman F, Orntoft TF, Moller P, Vasen H, Tops C, Kolodner RD, Mecklin JP, Jarvinen H, Bevan S, Houlston RS, Aaltonen LA, Fodde R, Wijnen J, Karhu A. EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer. Cancer Res, 63, 154-158, 2003.

Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet, 12, 441-450, 2003.

Koningsbruggen S van , de Haard H, de Kievit P, Dirks RW, van Remoortere A, Groot AJ, van Engelen BG, den Dunnen JT, Verrips CT, Frants RR, van der Maarel SM. Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. J Immunol Methods, 279, 149-161, 2003

Kors EE, Haan J, Giffin NJ, Pazdera L, Schnittger C, Lennox GG, Terwindt GM, Vermeulen FL, van den Maagdenberg AM, Frants RR, Ferrari MD. Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. Arch Neurol, 60, 684-688, 2003.

Lee SC, Chionh SB, Chong SM, Taschner PE. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? Laryngoscope, 113, 1055-1058, 2003.

Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size and detection. Neurology, 61, 178-183, 2003.

Lesnik Oberstein SA, van den Boom R, Middelkoop HA, Ferrari MD, Knaap YM, van Houwelingen HC, Breuning MH, van Buchem MA, Haan J. Incipient CADASIL. Arch Neurol, 60, 707-712, 2003.

Lesnik Oberstein SA, van Duinen SG, van den Boom R, Maat-Schieman ML, van Buchem MA, van Houwelingen HC, Hegeman-Kleinn IM, Ferrari MD, Breuning MH, Haan J. Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. Acta Neuropathol, 106, 107-111, 2003.

Lesnik Oberstein SA, Jukema JW, van Duinen SG, Macfarlane PW, van Houwelingen HC, Breuning MH, Ferrari MD, Haan J. Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine, 82, 251-256, 2003.

Lynch HT, Taylor RJ, Lynch JF, Knezetic JA, Barrows A, Fodde R, Wijnen J, Wagner A. Multiple primary cancer, including transitional cell carcinoma of the upper uroepithelial tract in a multigeneration HNPCC family: molecular genetic, diagnostic, and management implications. J Gastroenterol, 98, 664-670, 2003.

Maagdenberg AM van den, Plomp JJ. Neuromuscular synapse function in typical migraine. Cephalalgia, 23, 73-74, 2003.

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 14, 1164-1174, 2003.

Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Tjon A Fat G, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet, 72, 1308-1314, 2003.

Overveld PG van, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet, 35, 315-317, 2003.

Plomp JJ, van den Maagdenberg AM, Ferrari MD, Frants RR, Molenaar PC. Transmitter release deficits at the neuromuscular synapse of mice with mutations in the Cav2.1 (alpha1A) subunit of the P/Q-type Ca2+ channel. Ann NY Acad Sci, 998, 29-32, 2003.

Saeland E, Vidarsson G, Leusen JH, van Garderen E, Nahm MH, Vile-Weekhout H, Walraven V, Stemerding AM, Verbeek JS, Rijkers GT, Kuis W, Sanders EA, van de Winkel JG. Central role of complement in passive protection by human IgG1 and IgG2 anti-pneumococcal antibodies in mice. J Immunol, 170, 58-64, 2003.

Scheenstra R, Rijcken FE, Koornstra JJ, Hollema H, Fodde R, Menko FH, Sijmons RH, Bijleveld CM, Kleibeuker JH. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds. Gut, 52, 898-899, 2003.

Service SK, Sandkuijl LA, Freimer NB. Cost-effective designs for linkage disequilibrium mapping of complex traits. Am J Hum Genet, 72, 1213-1220, 2003.

Soravia C, van der Klift H, Brundler MA, Blouin JL, Wijnen J, Hutter P, Fodde R, Delozier-Blanchet C. Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. Am J Med Genet, 121, 159-162, 2003.

Sluijs BM van der, Hoefsloot LH, Padberg GW, Van Der Maarel SM, Van Engelen BG. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol, 250, 1307-1312, 2003.

Svensson BA, Kreeft AJ, van Ommen GJ, den Dunnen JT, Boer JM. GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbers. Genome Biol, 4, 35, 2003.

Tanck MW, Klerkx AH, Jukema JW, de Knijff P, Kastelein JJ, Zwinderman AH. Estimation of multilocus haplotype effects using weighted penalised log-likelihood: analysis of five sequence variations at the cholesteryl ester transfer protein gene locus. Ann Hum Genet, 67, 175-184, 2003.

Tarzi RM, Davies KA, Claassens JW, Verbeek JS, Walport MJ, Cook HT. Both Fcgamma receptor I and Fcgamma receptor III mediate disease in accelerated nephrotoxic nephritis. Am J Pathol, 162, 1677-1683, 2003.

Thomassen HA, Wiersema AT, de Bakker MA, de Knijff P, Hetebrij E, Povel GD. A new phylogeny of swiftlets (Aves: Apodidae) based on cytochrome-b DNA. Mol Phylogenet Evol, 29, 86-93, 2003.

Timman R, Maat-Kievit A, Brouwer-Dudok deWit C, Zoeteweij M, Breuning MH, Tibben A. Testing the test-why pursue a better test for Huntington disease? Am J Med Genet, 117, 79-85, 2003.

Tolg C, Poon R, Fodde R, Turley EA, Alman BA. Genetic deletion of receptor for hyaluronan-mediated motility (Rhamm) attenuates the formation of aggressive fibromatosis (desmoid tumor). Oncogene, 22, 6873-6882, 2003.

Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM.Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol, 54, 360-366, 2003.

Vanmolkot KR, van den Maagdenberg AM, Haan J, Ferrari MD. New discoveries about the second gene for familial hemiplegic migraine, ATP1A2. Lancet Neurol, 2, 721, 2003.

Velden PA van der, Zuidervaart W, Hurks MH, Pavey S, Ksander BR, Krijgsman E, Frants RR, Tensen CP, Willemze R, Jager MJ, Gruis NA. Expression profiling reveals that methylation of TIMP3 is involved in uveal melanoma development. Int J Cancer, 106, 472-479, 2003.

Vrolijk H, Sloos W, Mesker W, Franken P, Fodde R, Morreau H, Tanke H. Automated acquisition of stained tissue microarrays for high-throughput evaluation of molecular targets. J Mol Diagn, 5, 160-167, 2003.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jagmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, De La Chapelle A, Lynch HT, Fodde R. Molecular analysis of hereditary nonpolyposis Colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet, 72, 1088-1100, 2003.

Watson P, Narod SA, Fodde R, Wagner A, Lynch JF, Tinley ST, Snyder CL, Coronel SA, Riley B, Kinarsky Y, Lynch HT. Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer. J Med Genet, 50, 591-596, 2003.

White SJ, Sterrenburg E, van Ommen GJ, den Dunnen JT, Breuning MH. An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J Med Genet, 40, e113, 2003.

Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet, 12, 2895-2907, 2003.

Witjes-Ane MN, Vegter-van der Vlis M, van Vught JP, Lanser JB, Hermans J, Zwinderman AH, van Ommen GJ, Roos RA. Cognitive and motor functioning in gene carriers for Huntington's disease baseline study. J Neuropsychiatry Clin Neurosci, 15, 7-16, 2003.

Wohlgemuth M, Lemmers RJ, van der Kooi EL, van der Wielen MJ, van Overveld PG, Dauwerse H, Bakker E, Frants RR, Padberg GW, van der Maarel SM. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology, 61, 909-913, 2003.

Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR. Gene diagnosis of facioscapulohumeral muscular dystrophy. Chinese J Med Genet, 20, 232-234, 2003.

Zorai A, Harteveld CL, Rachdi R, Dellagi K, Abbes S, Delbini P, Giordano PC. Frequency and spectrum of hemochromatosis mutations in Tunisia. Hematol J, 4, 433-435, 2003.

Zuidervaart W, van der Velden PA, Hurks MH, van Nieuwpoort FA, Out-Luiting CJ, Singh AD, Frants RR, Jager MJ, Gruis NA. Gene expression profiling identifies tumour markers potentially playing a role in uveal melanoma development. Br J Cancer, 89, 1914-1919, 2003.

Proefschriften
Ioan-Facsinay A. The biological function of the activiating IgG Fc receptors, FcgammaRI and FCgammaRIII.
Promotoren: GJB van Ommen, JGJ van de Winkel

Witjes-Ané MN. The evolution of cognitive, motor and behavioural characteristics in 'presymptomatic' carriers for Huntington's disease. - A prospective study - .
Promotoren: RAC Roos, GJB van Ommen