Publications 2001


Department of Human Genetics


2001

Publicaties in ref tijdschriften
Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PEM, Schofield PR. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer, 31, 255-263, 2001.

Baysal BE, Willett-Brozick JE, Taschner PEM, Dauwerse JG, Devilee P, Devlin B. A high-resolution integrated map spanning the SDHD gene at 11q23: a 11-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region. Eur J Hum Genet, 9, 121-129, 2001.

Baysal BE, Rubinstein WS, Taschner PEM. Phenotypic dichotomy in mitochondrial complex II genetic disorders. J Mol Med, 79, 495-503, 2001.

Beckers M, Gabriels J, van der Maarel SM, de Vriese A, Frants RR, Collen D, Belayew A. Active genes in junk DNA? Characterization of DUX genes embedded within 33 kb repeated elements. Gene, 264, 51-57, 2001.

Beekman M, Lakenberg N, Cherny SS, de Knijff P, Kluft C, van Ommen GJB, Vogler GP, Frants RR, Boomsma DI, Slagboom PE. A powerful and rapid approach to human genome scanning using small quantities of genomic DNA. Genet Res, 77, 129-134, 2001.

Bock GH de, Tollenaar RAEM, Papelard H, Cornelisse CJ, Devilee P, Vijver MJ. Clinical and pathological features of BRCA1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients. Br J Cancer, 85, 1347-1350, 2001.

Breuning MH. Verantwoord omgaan met bewaartermijn medische gegevens. Ned Tijdschr Geneeskd, 145, 1376, 2001.

Deutekom JCT van, Bremmer-Bout M, Janson JAM, Ginjaar HB, Baas F, den Dunnen JT, van Ommen GJB. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet, 10, 1547-1554, 2001.

Devilee P, Cleton-Jansen AM, Cornelisse CJ. Ever since Knudson. Trends Genet, 17, 569-573, 2001.

Diggelen OP van, Thobois S, Tilikete C, Zabot MT, Keulemans JLM, van Bunderen PA, Taschner PEM, Losekoot M, Voznyi YV. Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol, 50, 269-272, 2001.

Dunnen JT den, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet, 109, 121-124, 2001.

Eck-Smaling MM van, Willems van Dijk JAP, Herijgers N, Hofker MH, Groot PH, van Berkel TJC. Essential role for the (hepatic) LDL receptor in macrophage apolipoprotein E-induced reduction in serum cholesterol levels and atherosclerosis. Atherosclerosis, 154, 103-112, 2001.

Fodde R, Smits MJM. Disease model: familial adenomatous polyposis. Trends Mol Med, 7, 369-373, 2001.

Fodde R, Kuipers J, Rosenberg C, Smits MJM, Kielman MF, Gaspar C, van Es JH, Breukel C, Wiegant JCAG, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nature Cell Biol, 3, 433-438, 2001.

Gill P, Brenner C, Brinkmann B, Budowle B, Carrecado A, Jobling MA, de Knijff P, Kayser M, Krawczak M, Mayr WR, Morling N, Olaisen B, Pascali V, Prinz M, Roewer L, Schneider PM, Sajantila A, Tyler-Smith C. DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med, 114, 305-309, 2001.

Goudriaan JR, Tacken PJ, Dahlmans VEH, Gijbels MJJ, Willems van Dijk JAP, Havekes LM, Jong MCM. Protection from obesity in mice lacking the VLDL receptor. Arterioscler Thromb Vasc Biol, 21, 1488-1493, 2001.

Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman H, Williams M, Volsen S, Ophoff RA, Frants RR, Jodice C, Frontali M, Pietrobon D. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet, 68, 759-764, 2001.

Haan J, van Vliet J, Kors EE, Terwindt GM, Vermeulen FLMG, van den Maagdenberg AMJM, Frants RR, Ferrari MD. No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache. Cephalalgia, 21, 959-962, 2001.

Haan J, Bakker E, Bornebroek M, Roos RAC. Van gen naar ziekte; het gen voor amyloid-beta-precursor proteine betrokken bij erfelijke cerebral amyloidangiopathie. Ned Tijdschr Geneeskd, 145, 1639-1641, 2001.

Harteveld CL, Traeger-Synodinos J, Ragusa A, Fichera M, Kanavakis E, Kattamis CH, Giordano PC, Schiliro G, Bernini LF. Different geographic origins of Hb constant spring [alpha2 codon 142 TAACAA. Haematologica, 86, 36-38, 2001.

Harteveld CL, Plug RJ, van Delft P, van Helden WC, Giordano PC. Hb 't Lange Land [beta136(H14)GlyArg]: a new hemoglobin variant described in a Dutch patient of Chinese origin. Hemoglobin, 25, 331-336, 2001.

Jaari S, Willems van Dijk JAP, Olkkonen VM, van der Zee A, Metso J, Havekes LM, Jauhiainen M, Ehnholm C. Dynamic changes in mouse lipoproteins induced by transiently expressed human phospholipid transfer protein (PLTP): importance of PLTP in prebeta-HDL generation. Comp Biochem Physiol Biochem Mol Biol, 128, 781-792, 2001.

Kalaydjieva L, Calafell F, Jobling MA, Angelicheva D, de Knijff P, Rosser ZH, Hurles ME, Underhill P, Tournev I, Marushiakova E, Popov V. Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur J Hum Genet, 9, 97-104, 2001.

Kayser M, Krawczak M, Excoffier L, Dieltjes JLW, Corach D, Pascali V, Gehrig C, Bernini LF, Jespersen J, Bakker E, Roewer L, de Knijff P. An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet, 68, 990-1018, 2001.

Klein MA, Kaeser PS, Schwarz P, Weyd H, Xenarios I, Zinkernagel RM, Carroll MC, Verbeek JS, Botto M, Walport MJ, Molina H, Kalinke U, Acha-Orbea H, Aguzzi A. Complement facilitates early prion pathogenesis. Nature Med, 7, 488-492, 2001.

Kleijer WJ, van Diggelen OP, Keulemans JLM, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer DF, Franken PF, Eurlings MCM, Taschner PEM, Los F, Galjaard RJ. First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis. Prenat Diagn, 21, 99-101, 2001.

Knijff P de, Denkers F, van Swelm ND, Kuiper M. Genetic Affinities Within the Herring Gull Larus argentatus Assemblage Revealed by AFLP. J Mol Evol, 52, 85-93, 2001.

Kors EE, Terwindt GM, Vermeulen FLMG, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AMJM, Haan J, Frants RR, Ferrari MD. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol, 49, 753-760, 2001.

Kors EE, Haan J, Frants RR, Ferrari MD. Van gen naar ziekte; van CACNA1A naar migraine. Ned Tijdschr Geneeskd, 145, 266-267, 2001.

Kreeft AJ, Moen CJA, Hofker MH, Frants RR, Vreugdenhil E, Gijbels MJJ, Havekes LM , Datson NA. Identification of differentially regulated genes in mildly hyperlipidemic ApoE3-Leiden mice by use of serial analysis of gene expression. Arterioscler Thromb Vasc Biol, 21, 1984-1990, 2001.

Kypreos KE, Teusink B, Willems van Dijk JAP, Havekes LM, Zannis VI. Analysis of the structure and function relationship of the human apolipoprotein E in vivo, using adenovirus-mediated gene transfer. Faseb J, 15, 1598-1600, 2001

Kypreos KE, Willems van Dijk, JAP, van der Zee A, Havekes LM, Zannis VI. Domains of apolipoprotein E contributing to triglyceride and cholesterol homeostasis in vivo Carboxyl-terminal region 203-299 promotes hepatic very low density lipoprotein-triglyceride secretion. J Biol Chem, 276, 19778-19786, 2001.

Kypreos KE, Morani P, Willems van Dijk JAP, Havekes LM, Zannis VI. The amino-terminal 1-185 domain of apoE promotes the clearance of lipoprotein remnants in vivo The carboxy-terminal domain is required for induction of hyperlipidemia in normal and apoE-deficient mice. Biochemistry, 40, 6027-6035, 2001.

Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Konst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RBH, Pronk JC , van der Knaap MS. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet, 68, 831-838, 2001.

Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJLF, Frants RR, Oudejans CB, Schutgens RBH, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nature Genet, 29, 383-388, 2001.

Liebers D, Helbig AJ, de Knijff P. Genetic differentiation and phylogeography of gulls in the Larus cachinnans-fuscus group (Aves: Charadriiformes). Mol Ecol, 10, 2447-2462, 2001.

Lemmers RJLF, de Kievit P, van Geel M, van der Wielen MJR, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol, 50, 816-819, 2001.

Lesnik Oberstein SAJ, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, Ferrari MD, Breuning MH, Haan J. Cerebral microbleeds in CADASIL. Neurology, 57, 1066-1070, 2001.

Lesnik Oberstein SAJ, Bakker E, Ferrari MD, Haan J. Van gen naar ziekte; van Notch3 naar cerebrale autosomaal dominante arteriopathie met subcorticale infarcten en leuko-encefalopathie. Ned Tijdschr Geneeskd, 145, 359-360, 2001.

Maassen van den Brink A, Lemkes HHPJ, Losekoot M. Van gen naar ziekte; 'maturity-onset diabetes of the young' (MODY), monogenetische erfelijke vormen van diabetes mellitus. Ned Tijdschr Geneeskd, 145, 1352-1353, 2001.

Maassen van den Brink A, van den Ouweland JMW, Losekoot M, Lemkes HHPJ. Van gen naar ziekte; mutatie in mitochondrieel DNA en maternaal overervende diabetes mellitus met doofheid. Ned Tijdschr Geneeskd, 145, 1153-1154, 2001.

Maat-Kievit A, Losekoot M, van den Boer-van den Berg JMA, van Ommen GJB, Niermeijer MF, Breuning MH, Tibben A. New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles. J Med Genet, 38, E12, 2001.

Maat-Kievit JA, Helderman-van den Enden ATJM, Losekoot M, de Knijff P, Belfroid RDM, Vegter-van der Vlis M, Roos RAC, Breuning MH. Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease. Am J Med Genet, 105, 737-744, 2001.

Maat-Kievit JA, Losekoot M, Roos RAC. Van gen naar ziekte; HD gen en de ziekte van Huntington. Ned Tijdschr Geneeskd, 145, 2120-2123, 2001.

Mensenkamp AR, Teusink B, Baller JF, Wolters H, Havinga R, Willems van Dijk JAP, Havekes LM , Kuipers E. Mice expressing only the mutant APOE3Leiden gene show impaired VLDL secretion. Arterioscler Thromb Vasc Biol, 21, 1366-1372, 2001.

Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Jarvela I, Taschner PEM. New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Pediatr, 5, 7-10, 2001.

Naf D, Wilson LA, Bergstrom RA, Smith RS, Goodwin NC, Verkerk JMH, van Ommen GJB, Ackerman SL, Frankel WN, Schimenti JC. Mouse models for the Wolf-Hirschhorn deletion syndrome. Hum Mol Genet, 10, 91-98, 2001.

Njajou OT, Vaessen N, Joosse MN, Berghuis B, van Dongen JW, Breuning MH, Snijders P, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nature Genet, 28, 213-214, 2001.

Ommen GJB van. Medical genomics. Eur J Hum Genet, 9, 729, 2001.

Ophoff RA, deYoung J, Service SK, Joosse MN, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AMJM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p211-p213. Am J Hum Genet, 69, 447-453, 2001.

Ophoff RA, van den Maagdenberg AMJM, Roon KI, Ferrari MD, Frants RR. The impact of pharmacogenetics for migraine. Eur J Pharmacol, 413, 1-10, 2001.

Peters DJM, Breuning MH. Autosomal dominant polycystic kidney disease: modification of disease progression. Lancet, 358, 1439-1444, 2001.

Peters DJM, Ariyurek Y, van Dijk M, Breuning MH. Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE. Eur J Hum Genet, 9, 957-960, 2001.

Peters DJM , Paul LC. Van gen naar ziekte; van polycystinen naar polycysteuze nierziekte. Ned Tijdschr Geneeskd, 145, 173-175, 2001.

Poon R, Smits MJM, Li C, Jagmohan-Changur SC, Kong M, Cheon S, Yu C, Fodde R, Alman B. Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). Oncogene, 20, 451-460, 2001.

Ravenswaaij-Arts CM van, Losekoot M. Van gen naar ziekte; achondroplasie en andere skeletdysplasieen door een activerende mutatie in een receptor voor fibroblastgroeifactor. Ned Tijdschr Geneeskd, 145, 1156-1159, 2001.

Ridanpaa M, Fodde R, Kielman MF. Dynamic expression and nuclear accumulation of beta-catenin during the development of hair follicle-derived structures. Mech Dev, 109, 173-181, 2001.

Roewer L, Krawczak M, Willuweit S, Nagy M, Alves C, Amorim A, Anslinger K, Augustin C, Betz A, Bosch E, Caglia A, Carracedo A, Corach D, Dekairelle AF, Dobosz T, Dupuy BM, Furedi S, Gehrig C, Gusmao L, Henke J, Henke L, Hidding M, Hohoff C, Hoste B, Jobling MA, Kargel HJ, de Knijff P, Lessig R, Liebeherr E, Lorente M, Martinez-Jarreta B, Nievas P, Nowak M, Parson W, Pascali V, Penacino G, Ploski R, Rolf B, Sala A, Schmidt U, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Kayser M. Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int, 118, 106-113, 2001.

Rosenberg C, Wouters CH, Szuhai K, Dorland R, Pearson PL, Poll-The BT, Colombijn RM, Breuning MH, Lindhout D. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease. Eur J Hum Genet, 9, 171-177, 2001.

Stec I, van Ommen GJB, den Dunnen JT. Whsc1l1, on human chromosome 8p112, closely resembles whsc1 and maps to a duplicated region shared with 4p163. Genomics, 76, 5-8, 2001.

Stec I, van Vliet M, van Eijk R, Meijers H, Kroeze-Jansema KHG, Dauwerse JG, van Ommen GJB, Cornelisse CJ, den Dunnen JT, Devilee P. A partial BRCA1 sequence homology mapping to 4q28. Cytogenet Cell Genet, 94, 26-29, 2001.

Stella A, Wagner A, Shito K, Lipkin SM, Watson P, Guanti G, Lynch HT, Fodde R, Liu B. A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. Cancer Res, 61, 7020-7024, 2001.

Tacken PJ, van der Zee A, Beumer TL, Florijn RJ, Gijbels MJJ, Havekes LM, Frants RR, Willems van Dijk JAP, Hofker MH. Effective generation of very low density lipoprotein receptor transgenic mice by overlapping genomic DNA fragments: high testis expression and disturbed spermatogenesis. Transgenic Res, 10, 211-221, 2001.

Tacken PJ, Hofker MH, Havekes LM, Willems van Dijk JAP. Living up to a name: the role of the VLDL receptor in lipid metabolism. Curr Opin Lipidol, 12, 275-279, 2001.

Taschner PEM, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends A, van der Mey AGL, van Ommen GJB, Cornelisse CJ, Devilee P. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer, 31, 274-281, 2001.

Terwindt GM, Ophoff RA, van Eijk R, Vergouwe MN, Haan J, Frants RR, Sandkuijl LA , Ferrari MD. Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. Neurology, 56, 1028-1032, 2001.

Teusink B, Mensenkamp AR, van der Boom H, Kuipers F, Willems van Dijk JAP, Havekes LM. Stimulation of the in vivo production of very low density lipoproteins by apolipoprotein E is independent of the presence of the low density lipoprotein receptor. J Biol Chem, 276, 40693-40697, 2001.

Velden PA van der, Sandkuijl LA, Bergman W, Pavel S, van Mourik LA, Frants RR, Gruis NA. Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet, 69, 774-779, 2001.

Velden PA van der, Metzelaar-Blok J, Bergman W, Hurks HMH, Frants RR, Gruis NA, Jager MJ. Promoter hypermethylation: a common cause of reduced p16(INK4a) expression in uveal melanoma. Cancer Res, 61, 5303-5306, 2001.

Verhoog LC, van den Ouweland AM, Berns E, van Veghel-Plandsoen MM, van Staveren IL, Wagner A, Bartels CC, Tilanus-Linthorst MM, Devilee P, Seynaeve C, Halley DJJ, Niermeijer MF, Klijn JG, Meijers-Heijboer H. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer, 37, 2082-2090, 2001.

Voer G de, Jansen G, van Ommen GJB, Peters DJM, Taschner PEM. Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol, 5, 115-120, 2001.

Wagner A, Hendriks YMC, Meijers-Heijboer EJ, de Leeuw WJF, Morreau H, Hofstra R, Tops CJM, Bik EC, Brocker-Vriends AHJT, van der Meer C, Lindhout D, Vasen HFA, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen JT, Fodde R. Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet, 38, 318-322, 2001.

Wapenaar MC, den Dunnen JT. Exon trapping Application of a large-insert multiple-exon-trapping system. Meth Mol Biol, 175, 201-215, 2001.

Yavarian M, Harteveld CL, Batelaan DN, Bernini LF, Giordano PC. Molecular spectrum of beta-thalassemia in the Iranian Province of Hormozgan. Hemoglobin, 25, 35-43, 2001.

Andere academische publicaties
Bakker E. DNA-based techniques for detection of carriers of Duchenne and Becker muscular dystrophy. In: Bushby KMD, Anderson LVB (ed). Muscular Dystrophy; methods and protocols, pp. 111-137, 2001. ISBN 08-960-36952

Dunnen JT den. Point mutation detection in the dystrophin gene. In: Bushby KMD, Anderson LVB (ed). Muscular Dystrophy; methods en protocols, pp. 85-111, 2001. ISBN 08-960-36952

Maarel SM van der, Bakker E, Frants RR. Molecular analysis of facioscapulohumeral muscular dystrophy (FSHD1). In: Bushby KMD, Anderson LVB (ed). Muscular Dystrophy; methods and protocols, pp. 305-319, 2001. ISBN 08-960-36952

Ommen GJB van. Genome research and future health care. In: Doevendans PA, Wilde AAM (ed). Cardiovascular genetics for clinicians, pp. 211-216, 2001. ISBN 1-402-00097-9

Proefschriften
Geel M van. Facioscapulohumeral muscular dystrophy, a complex human disease entangled in dynamic molecular evolution. Promotoren: RR Frants, P de Jong. 2001.

Peelen T. Genetics of hereditary breast and ovarian cancer in the Netherlands. Promotoren: GJB van Ommen, CJ Cornelisse. 2001.

Tacken PJ. Role of very low density lipoprotein receptor in lipid metabolism and atherosclerosis. Promotoren: LM Havekes, MH Hofker. 2001.