Publications 2004


Department of Human Genetics


2004

Publicaties in ref. tijdschriften
Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, van Ommen GJ, den Dunnen JT, van Deutekom JC. Antisense-induced multi-exon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet, 74: 83-92, 2004.

Aartsma-Rus A, Kaman WE, Bremmer-Bout M, Janson AA, Den Dunnen JT, Van Ommen GJ, Van Deutekom JC. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther, 11: 1391-1398, 2004.

Agema WR, Monraats PS, Zwinderman AH, De Winter RJ, Tio RA, Doevendans PA, Waltenberger J, De Maat MP, Frants RR, Atsma DE, Van Der Laarse A, Van Der Wall EE, Jukema JW. Current PTCA practice and clinical outcomes in The Netherlands: the real world in the pre-drug-eluting stent era. Eur Heart J, 25: 1163-1170, 2004.

Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S, Del Senno L. Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. FASEB J, 18: 884-846, 2004.

Ariyurek Y, Leeuwen IL, Spruit L, Ravine D, Breuning MH, Peters DJ. Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum Mutat, 23: 99, 2004.

Asperen CJ van, Jonker MA, Jacobi CE, van Diemen-Homan JE, Bakker E, Breuning MH, van Houwelingen JC, de Bock GH. Risk estimation for healthy women from breast cancer families: new insights and new strategies. Cancer Epidemiol Biomarkers Prev, 13: 87-93, 2004.

Barana D, van der Klift H, Wijnen J, Longa ED, Radice P, Cetto GL, Fodde R, Oliani C. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. Am J Med Genet, 125A: 318-319, 2004.

Bayley JP, Ottenhoff TH, Verweij CL. Is there a future for TNF promotor polymorphisms? Genes Immun, 5: 315-329, 2004.

Beekman M, Posthuma D, Heijmans BT, Lakenberg N, Suchiman HE, Snieder H, de Knijff P, Frants RR, van Ommen GJ, Kluft C, Vogler GP, Slagboom PE, Boomsma DI. Combined association and linkage analysis applied to the APOE locus. Genet Epidemiol, 26: 328-337, 2004.

Bock GH de, Schutte M, Krol-Warmerdam EM, Seynave C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG. Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet, 41: 731-735, 2004.

Boer J de, Siddappa R, Gaspar C, van Apeldoorn A, Fodde R, van Blitterswijk C. Wnt signaling inhibits osteogenic differentiation of human mesenchymal stem cells. Bone, 34: 818-826, 2004.

Boer L de, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM. Genotype-phenotype correlation in patients suspected of having sotos syndrome. Horm Res, 62: 197-207, 2004.

Bovenschen N, van Dijk KW, Havekes LM, Mertens K, van Vlijmen BJ. Clearance of coagulation factor VIII in very low-density lipoprotein receptor knockout mice. Br J Haematol, 126: 722-725, 2004.

Bremmer-Bout M, Aartsma-Rus A, De Meijer EJ, Kaman WE, Janson AA, Vossen RH, Van Ommen GJ, Den Dunnen JT, Van Deutekom JC. Targeted exon skipping in transgenic hDMD mice: a model for direct preclinical screening of human-specific antisense oligonucleotides. Mol Ther, 10: 232-240, 2004.

Bruyn RP, Frants RR. Van gen naar ziekte; spastin en erfelijke spastische paraparesis. Ned Tijdschr Geneeskd, 148: 179-181, 2004.

Cardoso J, Molenaar L, de Menezes RX, Rosenberg C, Morreau H, Moslein G, Fodde R, Boer JM. Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH. Nucleic Acids Res, 32: e146, 2004.

Dahan A, Taschner PE, Jansen JC, van der Mey A, Teppema LJ, Cornelisse CJ. Carotid body tumors in humans caused by a mutation in the gene for succinate dehydrogenase D (SDHD). Adv Exp Med Biol, 551: 71-76, 2004.

Dekkers LC, van der Plas MC, van Loenen PB, den Dunnen JT, van Ommen GJ, Fradkin LG, Noordermeer JN. Embryonic expression patterns of the Drosophila dystrophin-associated glycoprotein complex orthologs. Gene Expr Patterns, 4: 153-159, 2004.

Devilee P. The search for new breast cancer susceptibility genes. Eur J Cancer suppl. 9: 29-30, 2004.

Devilee P. New breast cancer gene suggests a role for BRCA2 in sporadic cases. Eur J Hum Genet, 12: 257-258, 2004.

Drenth JP, Tahvanainen E, te Morsche RH, Tahvanainen P, Kaariainen H, Hockerstedt K, van de Kamp JM, Breuning MH, Jansen JB. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology, 39: 924-931, 2004.

Dijk S van, Otten W, van Asperen CJ, Timmermans DR, Tibben A, Zoeteweij MW, Silberg S, Breuning MH, Kievit J. Feeling at risk: how women interpret their familial breast cancer risk. Am J Med Genet, 131A: 42-49, 2004.

Easton D, McGuffog L, Thompson D, Dunning A, Tee L, Baynes C, Healey C, Pharoah P, Ponder B, Seal S, Barfoot R, Sodha N, Eeles R, Stratton M, Rahman N, Peto J, Spurdle AB, Chen XQ, Chenevix-Trench G, Hopper JL, Giles GG, Mccredie MRE, Syrjakoski K, Holli K, Kallioniemi O, Eerola H, Vahteristo P, Blomqvist C, Nevanlinna H, Kataja V, Mannermaa A, Dork T, Bremer M, Devilee P, de Bock GH, Krol-Warmerdam EMM, Kroeze-Jansema K, Wijers-Koster P, Cornelisse CJ, Tollenaar RAEM, Meijers-Heijboer H, Berns E, Nagel J, Foekens J, Klijn JGM, Schutte M, and Breast Canc Case-Control Cons. CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74, 6: 1175-1182, 2004.

Eekhoff EW, Karperien M, Houtsma D, Zwinderman AH, Dragoiescu C, Kneppers AL, Papapoulos SE. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. Arthritis Rheum, 50: 1650-1654, 2004.

Espirito Santo SM, Pires NM, Boesten LS, Gerritsen G, Bovenschen N, van Dijk KW, Jukema JW, Princen HM, Bensadoun A, Li WP, Herz J, Havekes LM, van Vlijmen BJ. Hepatic low-density lipoprotein receptor-related protein deficiency in mice increases atherosclerosis independent of plasma cholesterol. Blood, 103: 3777-3782, 2004.

Fredman D, White SJ, Potter S, Eichler EE, Den Dunnen JT, Brookes AJ.Complex SNP-related sequence variation in segmental genome duplications. Nat Genet, 36: 861-866, 2004.

Giordano PC, Bouva MJ, Harteveld CL.A confidential inquiry estimating the number of patients affected with sickle cell disease and thalassemia major confirms the need for a prevention strategy in the Netherlands. Hemoglobin, 28: 287-296, 2004.

Godau J, Heller T, Hawlisch H, Trappe M, Howells E, Best J, Zwirner J, Verbeek JS, Hogarth PM, Gerard C, Van Rooijen N, Klos A, Gessner JE, Kohl J. C5a initiates the inflammatory cascade in immune complex peritonitis. J Immunol, 173: 3437-3445, 2004.

Goudriaan JR, Santo SM, Voshol PJ, Teusink B, Van Dijk KW, Van Vlijmen BJ, Romijn JA, Havekes LM, Rensen PC. The VLDL receptor plays a major role in chylomicron metabolism by enhancing LPL-mediated triglyceride hydrolysis. J Lipid Res, 45: 1475-1481, 2004.

Haan J, Kors EE, van den Maagdenberg AM, Vanmolkot KR, Terwindt GM, Frants RR, Ferrari MD. Toward a molecular genetic classification of familial hemiplegic migraine. Curr Pain Headache Rep, 8: 238-243, 2004.

Hage JA van der, van den Broek LJ, Legrand C, Clahsen PC, Bosch CJ, Robanus-Maandag EC, van de Velde CJ, van de Vijver MJ. Overexpression of P70 S6 kinase protein is associated with increased risk of locoregional recurrence in node-negative premenopausal early breast cancer patients. Br J Cancer, 90: 1543-1550, 2004.

Harteveld CL, Van Delft P, Akkermans N, Arkesteijn S, Van Rooijen-Nijdam IH, Kok PJ, Versteegh FG, Giordano PC. Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity. Hemoglobin, 28: 223-227, 2004.

Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC. An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. Hemoglobin, 28: 255-259, 2004.

Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC. A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases. Hemoglobin, 28: 1-5, 2004.

Hendriks YM, Wagner A, Morreau H, Menko F, Stormorken A, Quehenberger F, Sandkuijl L, Moller P, Genuardi M, Van Houwelingen H, Tops C, Van Puijenbroek M, Verkuijlen P, Kenter G, Van Mil A, Meijers-Heijboer H, Tan GB, Breuning MH, Fodde R, Wijnen JT, Brocker-Vriends AH, Vasen H. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology, 127: 17-25, 2004.

Hensen EF, Jordanova ES, van Minderhout IJ, Hogendoorn PC, Taschner PE, van der Mey AG, Devilee P, Cornelisse CJ. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 23: 4076-4083, 2004.

Hoen PA 't, Turk R, Boer JM, Sterrenburg E, de Menezes RX, van Ommen GJ, den Dunnen JT. Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designs. Nucleic Acids Res, 32: 41, 2004.

Hofstra RM, Mulder IM, Vossen R, de Koning Gans PAM, Kraak M, Ginjaar HB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mut, 23: 57-66, 2004.

Hohenstein P, Fodde R. Of mice and (wo)men: genotype-phenotype correlations in BRCA1. Hum Mol Genet, 13, 473, 2004.

Jong AE de, Morreau H, Van Puijenbroek M, Eilers PH, Wijnen J, Nagengast FM, Griffioen G, Cats A, Menko FH, Kleibeuker JH, Vasen HF. The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC. Gastroenterology, 126: 42-48, 2004.

Jong AE de, van Puijenbroek M, Hendriks Y, Tops C, Wijnen J, Ausems MG, Meijers-Heijboer H, Wagner A, van Os TA, Brocker-Vriends AH, Vasen HF, Morreau H. Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res, 10: 972-980, 2004.

Jurczyk A, Gromley A, Redick S, San Agustin J, Witman G, Pazour GJ, Peters DJ, Doxsey S. Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly. J Cell Biol, 166: 637-643, 2004.

Karimi M, Yavarian M, Delbini P, Harteveld CL, Farjadian S, Fiorelli G, Giordano PC. Spectrum and haplotypes of the HFE hemochromatosis gene in Iran: H63D in beta-thalassemia major and the first E277K homozygous. Hematol J, 5: 524-527, 2004.

Kaunisto MA, Harno H, Vanmolkot KR, Gargus JJ, Sun G, Hamalainen E, Liukkonen E, Kallela M, van den Maagdenberg AM, Frants RR, Farkkila M, Palotie A, Wessman M. A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics, 5: 141-146, 2004.

Kneppers AL, Ginjaar IB, Bakker E. Duchenne and Becker muscular dystrophy. Methods Mol Med, 92: 311-341, 2004.

Kong Y, Poon R, Nadesan P, Di Muccio T, Fodde R, Khokha R, Alman BA. Matrix metalloproteinase activity modulates tumor size, cell motility, and cell invasiveness in murine aggressive fibromatosis. Cancer Res, 64: 5795-5803, 2004.

Koningsbruggen S van, Dirks RW, Mommaas AM, Onderwater JJ, Deidda G, Padberg GW, Frants RR, van der Maarel SM. FRG1P is localised in the nucleolus, Cajal bodies, and speckles. J Med Genet, 41: e46, 2004.

Konvalinka D, Bik EC, Tops CM, Bakker E, Singh AR, Vrtel R, Santavy J. Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis. Cas Lek Cesk, 143: 543-546, 2004.

Kooi EL van der, Vogels OJ, van Asseldonk RJ, Lindeman E, Hendriks JC, Wohlgemuth M, van der Maarel SM, Padberg GW. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology, 63: 702-708.

Kors EE, Melberg A, Vanmolkot KR, Kumlien E, Haan J, Raininko R, Flink R, Ginjaar HB, Frants RR, Ferrari MD, van den Maagdenberg AM. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology, 63: 1136-1137, 2004.

Kors EE, Vanmolkot KR, Haan J, Frants RR, van den Maagdenberg AM, Ferrari MD. Recent findings in headache genetics. Curr Opin Neurol, 17: 283-288, 2004.

Kors EE, Vanmolkot KR, Haan J, Kheradmand Kia S, Stroink H, Laan LA, Gill DS, Pascual J, van den Maagdenberg AM, Frants RR, Ferrari MD. Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. Neuropediatrics, 35: 293-296, 2004.

Kors EE, Vanmolkot KR, Haan J, van den Maagdenberg AM, Frants RR, Ferrari MD. Van gen naar ziekte: familiaire hemiplegische migraine als gevolg van mutaties in een sodium-potassium pomp gen. Ned Tijdschr Geneeskd, 148: 1919-1920, 2004.

Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Genomic imbalances in mental retardation. J Med Genet, 41: 249-255, 2004.

Lakhani SR, Manek S, Penault-Llorca F, Flanagan A, Arnout L, Merrett S, McGuffog L, Steele D, Devilee P, Klijn JG, Meijers-Heijboer H, Radice P, Pilotti S, Nevanlinna H, Butzow R, Sobol H, Jacquemier J, Lyonet DS, Neuhausen SL, Weber B, Wagner T, Winqvist R, Bignon YJ, Monti F, Schmitt F, Lenoir G, Seitz S, Hamman U, Pharoah P, Lane G, Ponder B, Bishop DT, Easton DF. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res, 10: 2473-2481, 2004.

Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, Deruiter MC, Breuning MH, de Heer E, Peters DJ. Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet, 13: 3069-3077, 2004.

Le NH, van der Bent P, Huls G, van de Wetering M, Loghman-Adham M, Ong AC, Calvet JP, Clevers H, Breuning MH, van Dam H, Peters DJ. Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected. J Biol Chem, 279: 27472-27481, 2004.

Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet, 75: 44-53, 2004.

Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Somatic mosaicism in FSHD often goes undetected. Ann Neurol, 55: 845-850, 2004.

Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet, 75: 1124-1130, 2004.

Liebers D, de Knijff P, Helbig AJ. The herring gull complex is not a ring species. Proc R Soc Lond B Biol Sci, 271: 893-901, 2004.

Links TP, Ginjaar HB, van der Hoeven JH. Van gen naar ziekte: hypokalemische periodische paralyse. Ned Tijdschr Geneeskd, 148: 1035-1038, 2004.

Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, de la Chapelle A. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA, 291: 718-724, 2004.

Maagdenberg AM van den, Pietrobon D, Pizzorusso T, Kaja S, Broos LA, Cesetti T, van de Ven RC, Tottene A, van der Kaa J, Plomp JJ, Frants RR, Ferrari MD. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron, 41: 701-710, 2004.

Masny PS, Bengtsson U, Chung SA, Martin JH, Van Engelen B, Van Der Maarel SM, Winokur ST. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Hum Mol Genet, 13: 1857-1871, 2004.

Menezes RX de, Boer JM, van Houwelingen JC. Microarray data analysis: a hierarchical test to handle heteroscedasticity. Appl Bioinformatics, 3: 229-235, 2004.

Moorsel CH van, van Wijngaarden EE, Fokkema IF, den Dunnen JT, Roos D, van Zwieten R, Giordano PC, Harteveld CL. Beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays. Eur J Hum Genet, 12: 567-573, 2004.

Mullner C, Broos LA, van den Maagdenberg AM, Striessnig J. Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I Alter Cav2.1 Ca2+ Channel gating: evidence for beta-subunit isoform-specific effects. J Biol Chem, 297: 51844-51850, 2004.

Nagtegaal I, Gaspar C, Marijnen C, Van De Velde C, Fodde R, Van Krieken H. Morphological changes in tumour type after radiotherapy are accompanied by changes in gene expression profile but not in clinical behaviour. J Pathol, 204: 183-192, 2004.

Oldenburg RA, de Vos tot Nederveen Cappel WH, van Puijenbroek M, van den Ouweland A, Bakker E, Griffioen G, Devilee P, Cornelisse CJ, Meijers-Heijboer H, Vasen HF, Morreau H. Extending the p16-Leiden tumour spectrum by respiratory tract tumours. J Med Genet, 41: e31, 2004.

Persu A, Duyme M, Pirson Y, Lens XM, Messiaen T, Breuning MH, Chauveau D, Levy M, Grunfeld JP, Devuyst O. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int, 66: 2132-2136, 2004.

Regtuijt ME, Harteveld CL, Van Delft P, Akkermans N, Giordano PC. Hb Suan-Dok [alpha109(G16)Leu-->Arg; CTG-->CGG (alpha2)] described in a patient of African ancestry. Hemoglobin, 28: 173-176, 2004.

Robanus-Maandag E, Giovannini M, van der Valk M, Niwa-Kawakita M, Abramowski V, Antonescu C, Thomas G, Berns A. Synergy of Nf2 and p53 mutations in development of malignant tumours of neural crest origin. Oncogene, 23: 6541-6547, 2004.

Romani L, Montagnoli C, Bozza S, Perruccio K, Spreca A, Allavena P, Verbeek S, Calderone RA, Bistoni F, Puccetti P. The exploitation of distinct recognition receptors in dendritic cells determines the full range of host immune relationships with Candida albicans. Int Immunol, 16: 149-161, 2004.

Romberg R, Olofsen E, Sarton E, den Hartigh J, Taschner PE, Dahan A. Pharmacokinetic-pharmacodynamic modeling of morphine-6-glucuronide-induced analgesia in healthy volunteers: absence of sex differences. Anesthesiology, 100: 120-133, 2004.

Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet, 41: 826-836, 2004.

Schaap FG, Rensen PC, Voshol PJ, Vrins C, van der Vliet HN, Chamuleau RA, Havekes LM, Groen AK, van Dijk KW. ApoAV reduces plasma triglycerides by inhibiting very low density lipoprotein-triglyceride (VLDL-TG) production and stimulating lipoprotein lipase-mediated VLDL-TG hydrolysis. J. Biol Chem, 279: 27941-27947, 2004.

Scheffers MS, van der Bent P, van de Wal A, van Eendenburg J, Breuning MH, de Heer E, Peters DJ. Altered distribution and co-localization of polycystin-2 with polycystin-1 in MDCK cells after wounding stress. Exp Cell Res, 292: 219-230, 2004.

Schneider PM, Bender K, Mayr WR, Parson W, Hoste B, Decorte R, Cordonnier J, Vanek D, Morling N, Karjalainen M, Marie-Paule Carlotti C, Sabatier M, Hohoff C, Schmitter H, Pflug W, Wenzel R, Patzelt D, Lessig R, Dobrowolski P, O'Donnell G, Garafano L, Dobosz M, De Knijff P, Mevag B, Pawlowski R, Gusmao L, Conceicao Vide M, Alonso Alonso A, Garcia Fernandez O, Sanz Nicolas P, Kihlgreen A, Bar W, Meier V, Teyssier A, Coquoz R, Brandt C, Germann U, Gill P, Hallett J, Greenhalgh M. STR analysis of artificially degraded DNA-results of a collaborative European exercise. Forensic Sci Int, 139: 123-134, 2004.

Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl, 27: 240-249, 2004.

Sluijs BM van der, ter Laak HJ, Scheffer H, van der Maarel SM, van Engelen BG. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry, 75: 1449-1501, 2004.

Stamoulakatou A, Athanasiou-Metaxa M, Traeger-Synodinos J, Lazaropoulou C, Harteveld K, Premetis E, Tsantali H, Zorai A, Giordano P, Papassotiriou I, Kanavakis E. Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management. Blood Cells Mol Dis, 32: 118-123, 2004.

Sterrenburg P, Turk R, 't Hoen PA, van Deutekom JC, Boer JM, van Ommen GJB, den Dunnen JT. Large-scale gene expression analysis of human skeletal myoblast differentiation. Neuromuscul Disord, 14: 507-518, 2004.

Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van 't Veer LJ, Goldgar DE, Meijers-Heijboer H. Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles? Cancer Res, 64: 840-843, 2004.

Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. J Med Genet, 41: e17, 2004.

Trouw LA, Groeneveld TW, Seelen MA, Duijs JM, Bajema IM, Prins FA, Kishore U, Salant DJ, Verbeek JS, van Kooten C, Daha MR. Anti-C1q autoantibodies deposit in glomeruli but are only pathogenic in combination with glomerular C1q-containing immune complexes. J Clin Invest, 114: 679-688, 2004.

Turk R, 't Hoen PA, Sterrenburg P, de Menezes RX, de Meijer EJ, Boer JM, van Ommen GJB, den Dunnen JT. Gene expression variation between mouse inbred strains. BMC Genomics, 18: 57, 2004.

Valk PJ, Verhaak RG, Beijen MA, Erpelinck CA, Barjesteh van Waalwijk van Doorn-Khosrovani S, Boer JM, Beverloo HB, Moorhouse MJ, van der Spek PJ, Lowenberg B, Delwel R. Prognostically useful gene-expression profiles in acute myeloid leukemia. N Engl J Med, 350: 1617-1628, 2004.

Vasen HF, Hendriks Y, de Jong AE, van Puijenbroek M, Tops C, Brocker-Vriends AH, Wijnen JT, Morreau H. Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. Dis Markers 2004, 20: 207-13, 2004.

Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC. Novel mutations in three patients with LGMD2C with phenotypic differences. Pediatr Neurol, 30: 291-294, 2004.

Voorhoeve E, Kneppers AL, Patton S. Quality management in molecular genetics. Methods Mol Med, 92: 359-368, 2004.

Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Three new families with arterial tortuosity syndrome. Am J Med Genet, 131A: 134-143, 2004.

White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, Bakker B, Breuning MH, den Dunnen JT. Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat, 24: 86-92, 2004.

Willems van Dijk K, Rensen PC, Voshol PJ, Havekes LM. The role and mode of action of apolipoproteins CIII and AV: synergistic actors in triglyceride metabolism? Curr Opin Lipidol, 15: 239-246, 2004.

Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology, 63: 176-178, 2004.

Yan J, Feng J, Buzin CH, Scaringe W, Liu Q, Mendell JR, den Dunnen J, Sommer SS. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat, 23: 203-204, 2004.

Yavarian M, Karimi M, Bakker E, Harteveld CL, Giordano PC. Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica, 89: 1172-1178, 2004.

Andere academische publicaties
Frants RR, van der Maarel SM. Subtelomeric exchange between 4q and 10q sequences. In: Facioscapulohumeral muscular dystrophy (FSHD): clinical medicine and molecular cell biology. Cooper DN, Upadhyaya M (eds). BIOS Scientific publishers 2004, pp. 97-106.

Frants RR, Sandkuijl LA, van der Maarel SM, Padberg GW (2004). Mapping of the FSHD gene and the discovery of the pathognomic deletion. In: Facioscapulohumeral muscular dystrophy (FSHD): clinical medicine and molecular cell biology. Cooper DN, Upadhyaya M (eds). BIOS Scientific publishers 2004, pp. 55-64.

Koningsbruggen S van, van der Maarel SM. Identification and characterization of genes in the FSHD candidate region. In: Facioscapulohumeral muscular dystrophy (FSHD): clinical medicine and molecular cell biology. Cooper DN, Upadhyaya M (eds). BIOS Scientific publishers 2004, pp. 65-84.

Lemmers RJLF, Bakker E, van der Maarel SM. Molecular diagnosis of FSHD. In: Facioscapulohumeral muscular dystrophy (FSHD): clinical medicine and molecular cell biology. Cooper DN, Upadhyaya M (eds). BIOS Scientific publishers 2004, pp. 211-234.

Maagdenberg AMJM van den, Haan J. Genidentificatie bij migraine. In: De genetische ontrafeling van veelvoorkomende aandoeningen. Leschot NJ, Willems DL (eds). Elsevier 2004, pp. 39-55.

Ommen GJB van. Genomicsonderzoek bij multifactoriële ziekte: de toekomst. In: De genetische ontrafeling van veelvoorkomende aandoeningen. Leschot NJ, Willems DL (eds). Elsevier 2004, pp. 141-151.

Overveld PGM van, Frants RR, van der Maarel SM. Mosaicism and FSHD. In: Facioscapulohumeral muscular dystrophy (FSHD): clinical medicine and molecular cell biology. Cooper DN, Upadhyaya M (eds). BIOS Scientific publishers 2004, pp. 169-184.

White SJ, Breuning MH, den Dunnen JT. Detecting copy number changes in genomic DNA: MAPH and MLPA. In: Methods in cell biology. …. (Eds). Elsevier 2004, pp. 751-768.

Proefschriften
Asperen CL van. Risk estimation in familial breast cancer.
Promotoren: MH Breuning, JC van Houwelingen
Co-promotor: GH de Bock

Beekman M. Towards mapping QTLs influencing parameters of lipid metabolism in human twins.
Promotoren: PE Slagboom, DI Boomsma
Co-promooren: P de Knijff, BT Heijmans

Daly M. Computational approaches to finding complex disease genes in mice and men.
Promotoren: GJB van Ommen, ES Lander

Hohenstein PGJ. Tumor suppressor genes in tumorigenesis studies using the BRCA11700T and Smad4sad mouse models.
Promotoren: R Fodde, CJ Cornelisse

Kors, EE. Familial hemiplegic migraine. Exploring the clinical and molecular spectrum of CACNA1A and ATP1A2 mutations.
Promotoren: MD Ferrari, RR Frants
Co-promotoren: J Haan, AMJM van den Maagdenberg

Kreeft AJ. Towards the identification of novel genes involved in lipid metabolism genome wide expression analysis.
Promotoren: RR Frants, MH Hofker
Co-promotor: CJA Moen

Scheffers MS. Cellular aspects of polycystin-1 en polycystin-2, proteins involved in autosomal dominant polycystic kidney disease.
Promotor: MH Breuning
Co-promotor: DJM Peters

Velden PA van der. Genetic and epigenetic mechanisms in melanoma development.
Promotoren: R Willemze, RR Frants
Co-promotor: NA Gruis

MA Zorai. Les alpha thalassemies en Tunisie: Abords moleculair et correlation phenotype-genotype.
Promotor: S Abbes
Co-promotor: PC Giordano