Publications 1997


Department of Human Genetics


1997

Publicaties in ref tijdschriften
Ausems MGEM, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JLM, de Valk HW, Kneppers ALJ, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JAM. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, Biochemical and DNA analyses in a four-generation family. Am J Med Genet, 68, 236-239, 1997.

Baysal BE, van der Schothorst E, Farr JE, James MR, Devilee P, Richard 3rd CW. A high resolution STS, EST, and gene-based physical map of the hereditary paraganglioma region on chromosome 11q23. Genomics, 44, 214-221, 1997.

Beverstock GC, Helderman-Van den Enden ATJM, Dobbe-Van Meerendonk WGE, van Roosmalen J, Kolkman PH, Kanhai HHH. Yet another variation on the theme of chromosome 18 heteromorphisms? Prenat Diagn, 17, 585-586, 1997.

Beverstock GC, Wessels JW, Mollevanger P, den Ottolander GJ, Gottlieb DJ. A second case of hexasomy 8 in myelodysplastic syndrome. Cancer Genet Cytogenet, 99, 68-72, 1997.

Bom JG van der, de Knijff P, Haverkate F, Bots M, Meijer P, de Jong PTVM, Hofman A, Kluft C, Grobbee DE. Tissue plasminogen activator and risk for myocardial infarction. The Rotterdam Study. Circulation, 95, 2623-2627, 1997.

Bornebroek M, Haan J, van Duinen SG, Maat-Schieman MLC, van Buchem MA, Bakker E, van Broeckhoven C, Roos RAC. Dutch hereditary cerebral amyloid angiopathy: structural lesions and apolipoprotein E genotype. Ann Neurol, 41, 685-698, 1997.

Bornebroek M, Haan J, Deutz-Terlouw PP, van Buchem MA, van den Broeck M, Bakker E, Roos RAC, van Broeckhoven C. Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type. Ann Neurol, 42, 108-110, 1997.

Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FBL, Hageman S, Arts PJW, Ligtenberg MJL, Meijers-Heijboer EJ, Klijn JGM, Vasen HFA, Cornelisse CJ, van ‘t Veer LJ, Bakker E, van Ommen GJB, Devilee P. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genet, 17, 341-341, 1997.

Bouhassira EE, Kielman MF, Gilman J, Fabry MF, Suzuka,S, Leone O, Gikas E, Bernini LF, Nagel RL. Properties of the mouse alpha globin hs 26: relationship to hs 40, the major enhancer of human alpha globin gene expression. Am J Hematol, 54, 30-39, 1997.

Cnossen MH, van der Est MN, Breuning MH, van Asperen CJ, Breslau-Siderius EJ, van der Ploeg AT, de Goede-Bolder A, van den OuwenlandAMW, Halley DJJ, Niermeijer MF. Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat, 9, 458-464, 1997.

Cornelis RS, van Vliet M, van de Vijver MJ, Vasen HFA, Voute PA, Top B, Meera Khan P, Devilee P, Cornelisse CJ. Three germline mutations in the Tp53 gene. Hum Mutat, 9, 157-163, 1997.

Cornelisse CJ, Devilee P. Facts in cancer genetics. Patient Educ and Couns, 32, 9-17, 1997.

Devilee P, Hermans J, Eyfjörd J, Boressen A-L, Lidereau R, Sobol H, Borg A, Cleton-Jansen AM, Olah E, Cohen BB, Scherneck S, Hamann U, Peterlin B, Caligo M, Bignon Y-J, Maugard C. Loss of heterozygosity at 7q31 in breast cancer: results from an international collaborative study group. Genes Chromosomes Cancer, 18, 193-199, 1997.

Dudok de Wit AC, Tibben A, Duivenvoorden, H J, Frets PG, Zoeteweij MW, Losekoot M, van Haeringen A, Niermeijer MF, Passchier J. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. J Med Genet, 34, 382-390, 1997.

Dudok de Wit AC, Tibben A, Frets PG, Meijers-Heijboer EJ, Devilee P, Klijn JGM, Oosterwijk JC, Niermeijer MF. BRCA1 in the family: A case description of the psychological implications. Am J Med Genet, 71, 63-71, 1997.

Dudok de Wit AC, Tibben A, Duivenvoorden HJ, Frets PG, Zoeteweij MW, Losekoot M, van Haeringen A, Niermeijer MF, Passchier J, Lindhout D, Meijers-Heijboer EJ, Lodder LN, Trijsburg RW, Klijn JGM, Brocker-Vriends A, Helderman-Van den Enden ATJM, Hilhorst-Hofstee Y, Kant SG, Maat-Kievit A, Oosterwijk JC, Vegter-van der Vlis M, van der Smagt JJ, Vries-van der Weerd MACS, Bakker E, Cornelisse CJ, Devilee P, Tops CJM, Vasen HFA. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. J Med Genet, 34, 382-390, 1997.

Egberts J, van Kamp JL, Kanhai HHH, Meerman RH, Giordano PC, Bennebroek Gravenhorst J. The disappearance of fetal and donor red blood cells in alloimmunised pregnancies: a reappraisal. Br J Obstet Gynaecol, 104, 818-824, 1997.

Essen AJ van, Kneppers ALJ, van der Hout AH, Scheffer H, Ginjaar HB, ten Kate LP, van Ommen GJB, Buys CHCM, Bakker E. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy; an updated protocol. J Med Genet, 34, 805-812, 1997.

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl LA, Surrey S, Fortina P. Linkage of DFNB1 to non-syndromic neurosy autosomal-recessive deafness in Mediterrean families. Eur J Hum Genet, 5, 83-88, 1997.

Gerdes C, Fisher R, Nicaud V, Boer J, Humphries SE, Talmud PJ, Faergeman O. Lipoprotein lipase variants D9N and N219S are associated with increased plasma triglyceride and lower high-density lipopotein cholesterol concentrations. Studies in the fasting and postprandial states: The European Atherosclerosis Research Studies. Arterioscler Thromb Vasc Biol, 17, 1918-1923, 1997.

Giles RH, Dauwerse JG, Higgins C, Petrij F, Wessels JW, Beverstock GC, Döhner H, Jotterand-Bellomo M, Falkenburg JHF, Slater RM, van Ommen GJB, Hagemeijer A, van der Reijden BA, Breuning MH. Detection of CPB rearrangements in acute myelogenous leukemia with t(8;16). Leukemia, 11, 2087-2096, 1997.

Giles RH, Petrij F, Dauwerse JG, den Hollander AI, Lushnikova T, van Ommen GJB, Goodman RH, Deaven LL, Doggett NA, Peters DJM , Breuning MH. Construction of a 12-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p133. Genomics, 42, 96-114, 1997.

Giordano PC, Harteveld CL, Michels JJ, Terpstra W, Batelaan DN, van Delft P, Plug RJ, van der Wielen MJR, Losekoot M, Bernini LF. Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and - alpha 37 deletions with HbC heterozygosity. Br J Haematol, 96, 801-805, 1997.

Grewal PK, van Deutekom JCT, Mills KA, Lemmers RJLF, Methews KD, Frants RR , Hewitt JE. The mouse homologe of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on Chromosome 8. Mamm Genome, 8, 394-398, 1997.

Harland M, Meloni R, Gruis NA, Pinney E, Brookes S, Spurr NK, Frischlauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, Bishop JN. Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Genet, 6, 2061-2067, 1997.

Harteveld CL, Losekoot M, Heister JGAM, van der Wielen MJR, Giordano PC, Bernini LF. Alpha-thalassemia in The Netherlands: a heterogenous spectrum of both deletions and point mutations. Hum Genet, 100, 465-471, 1997.

Harteveld CL, Losekoot M, Fodde R, Giordano PC, Bernini LF. The involvement of alu repeats in recombination events at the aplha globin gene cluster:characterization of two alpha(o) thalassaemia deletion breakpoints. Hum Genet, 99, 528-534, 1997.

Havekes LM, van Vlijmen BJM, Jong MC, Willems van Dijk JAP, Hofker MH. Use of transgenic mice in lipoprotein metabolism and atherosclerosis research. Prostaglandins Leukot Essent Fatty Acids, 57, 463-466, 1997.

Hendriks WL, van der Sman-de Beer F, van Vlijmen BJM, van Vark LC, Hofker MH, Havekes L M. Uptake by J774 macrophages of very-low-density lipoproteins isolated from aoE-deficient mice is mediated by a distinct receptor and stimulated by lipoprotein lipase. Arterioscler Thromb Vasc Biol, 17, 498-504, 1997.

Heus J, de Winther MPJ, van de Vosse E, van Ommen GJB, den Dunnen JT. Centromeric and noncentromeric ADE2-selectable fragmentation vectors for yeast artificial chromosomes in AB1380. Genome Res, 7, 657-660, 1997.

Heutink P, Stevens M, Rizzu P, Bakker E, Kros J, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neurol, 41, 150-159, 1997.

Heyer E, Puymirat J, Dieltjes JLW, Bakker E, de Knijff P. Estimating Y-chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet, 6, 799-803, 1997.

Janssen B, Halley DJJ, Sandkuijl LA. Linkage analysis uner locus heterogenecity: behaviour of the A-test in complex analysis. Hum Hered, 47, 223-233, 1997.

Jodice C, Manuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2(EA2) and spinocerebellar ataxia type 6 (SCA 6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet, 6, 1973-1978, 1997.

Jong MC, Dahlmans VEH, Hofker MH, Havekes LM. Nascent very-low-density lipoprotein-triacylglycerol hydrolysis by lipoprotein lipase is inhibited by apolipoprotein e in a dose-dependent manner. Biochem J, 328, 745-750, 1997.

Jong MC, van Ree JH, Dahlmans VEH, Frants RR, Hofker MH. Reduced very-low-density lipoprotein fractional catabolic rate in apolipoprotein C1-deficient mice. Biochem J, 321, 445-450, 1997.

Kant SG, van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, van Ommen GJB. Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p163. J Med Genet, 34, 569-572, 1997.

Kayser M, de Knijff P, Dieltjes JLW, Krawczak M, Nagy M, Zerjal T, Pandya A, Tyler-Smith C, Roewer L. Applications of microsatellite-based Y chromosome haplotyping, Electrophoresis, 18, 1602-1607, 1997.

Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Piccinini A, Perez-Lezaun A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, de Knijff P, Roewer L. Evaluation of Y chromosomal STRs: a multicenter study. Int J Legal Med, 110, 125-133, 1997.

Knijff P de, Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Piccinini A, Perez-Lezaun A, Prinz M, Schmitt C, Schneider PM, Szibor R, Teifel-Greding J, Weichhold G, Roewer L. Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med, 119, 134-140, 1997.

Koeleman BP, Reitsma PH, Bakker E, Bertina RM. Location on the human genetic linkage map of 26 genes involved in blood coagulation. Thromb Haemostasis, 77, 873-878, 1997.

Kroef MJPL, Bolk MJW, Muus P, Wessels JW, Beverstock GC, Willemze R, Landegent JE. Mosaicism of the 5q deletion as assessed by interphase FISH is a common phenomenon in MDS and restricted myeloid cells. Leukemia, 11, 519-523, 1997.

Kuipers F, Jong MC, Lin YG, van Eck M, Havinga R, Bloks V, Verkade HJ, Hofker MH, Moshage H, van Berkel TJC. Impaired secretion of very low density lipoprotein-triglycerides by apolipoprotein e-deficient mouse hepatocytes. J Clin Invest, 100, 2915-2922, 1997.

Kuivenhoven JA, de Knijff P, Boer J, Smalheer HA, Botma G-J, Seidell JC, Kastelein JJP, Pritchard PH. Heterogeneity at the CETP gene locus influence on plasma CETP concentrations and HDL cholesterol levels. Arterioscler Thromb Vasc Biol, 17, 560-568, 1997.

Lakhani SR, Easton DF, Stratton MR, Storferisser A, Anderson TJ, Farid LM, Gusterson BA, Jaquemier J, Sloane JP, Venter D, Vandevijver MJ, Bishop DT, Barkardottir RB, Bignon Y-J, Cornelisse CJ, Changclaude J, Daly PA, Devilee P, Egilsson V, Ford D, Goldgar D, Haites N, Hamann U, Klijn JGM, Lasset C, Lenoir G, Mc Manus R, Neuhausen S, Ormiston W, Ponder BAJ, Peto J, Steel CM, Stoppalyonnet D, Smyth E, Sobol H, Spurr NK, Scott RJ, Scherneck S, Streuwing JP, Vasen HFA, Weber B. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet, 349, 1505-1510, 1997.

Liu L, Goldstein AM, Tucker MA, Brill H, Gruis NA, Hogg D, Lassam NJ. Affected members of melanoma-prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF. Genes Chromosomes Cancer, 19, 52-54, 1997.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CCAM, Oosterwijk JC, van den Ouweland JMW, Halley DJJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. J Med Genet, 34, 924-926, 1997.

Luijt RB van der, Meera Khan P, Vasen HFA, Breukel C, Tops CJM, Scott RJ, Fodde R. Germline mutations in the 3'part of APC exon 15 do not result in truncated proteins and are asociated with attenuated adenomatous polyposis coli. Hum Genet, 98, 727-734, 1997.

Luijt RB van der, Meera Khan P, Vasen HFA, Tops CJM, van Leeuwen-Cornelisse I, Wijnen JT, van der Klift H, Plug RJ, Griffioen G, Fodde R. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and Southern Analysis. Hum Mutat, 9, 7-16, 1997.

Maat MPM de, Green F, de Knijff P, Jespersen J, Kluft C. Factor VII polymorphisms in populations with different risks of cardiovascular disease. Arterioscler ThrombVasc Biol, 17, 1918-1923, 1997.

Mitchison HM, Munroe PB, O'Rawe AM, Taschner PEM, de Vos N, Kremmidiotis G, Lensink I, Munk AC, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Dogget NA, Gardiner RM, Mole SE. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics, 46, 346-350, 1997.

Moghaddam PH, Zwinderman AH, de Knijff P, Roep BO, Schipper RF, van der Auwera B, Naipal A, Gorus F, Schuit F, Giphart MJ. TNFa microsatellitepolymorphism modulates the risk if IDDM in Caucasians with the high-risk genotype HLA DQA1*0501-DQB1*0201/DQA1*0301-DQB1*0302. Diabetes, 46, 1514-1515, 1997.

Montini E, Rugarli EI, van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the "drosophila retinal degeneration C (rdgC)" gene is selectively expressed in sensory neurons of neural crest origin. Hum Mol Genet, 6, 1137-1145, 1997.

Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany R-M, Lerner TJ, Taschner PEM, deVos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 61, 310-316, 1997.

Odermatt A, Taschner PEM, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudry V, Yee W-C, Schrank B, Karpati G, Breuning MH, Knoers NVAM, MacLennan DH. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics, 45, 541-553, 1997.

Oosterwijk JC, Richard G, van der Wielen MJR, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJB. Molecular genetic analysis of two families with Keratosis follicularis Spimulosa Decalvans (KFSD): refinement of gene localization and demonstration of genetic heterogenecity. Hum Genet, 100, 520-524, 1997.

Ophoff RA, Terwindt GM, Vergouwe MN, Frants RR, Ferrari MD. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Headache, 37, 479-485, 1997.

Peelen T, van Vliet M, Bosch A, Mieremet RHP, Szabo C, van den Ouweland JMW, Hogervorst FBL, Brohet R, Ligtenberg MJL, Teugels E, van der Luijt RB, van der Hout AH, Gille JJP, Pals G, Jedema I, Olmer R, van Leeuwen-Cornelisse I, Newman B, Plandsoen M, van der Est MN, Brink G, Hageman S, Arts PJW, Bakker MM, Willems HW, van der Looij E, Neyns B, Bonduelle M, Jansen R, Oosterwijk JC, Sijmons R, Meijers-Heijboer EJ, Smeets HJ, van Asperen CJ, Klijn JGM, de Greve J, King M-C, Menko F, Brunner H, Halley DJJ, van Ommen GJB, Vasen HFA, Cornelisse CJ, van ‘t Veer LJ, de Knijff P, Bakker E, Devilee P. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet, 60, 1041-1049, 1997.

Peltomaki P, Vasen HFA, Bisgaard ML, Buerstedde JM, Friedl W, Hutter AP, Kohonen-Corish M, Kolodner R, Kurzwaski G, Lindblom A, Lynch HT, Piepoli A, Deleon MP, Grandjouan S, Radice R, Thibodeau S, Weber W, Wijnen JT, West S. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. Gastroenterology, 113,1146-1158, 1997.

Rao R, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelman M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet, 16, 54-63, 1997.

Rodriquez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch HT, Perucho M, Smyrk T, Sobin L , Srivastava S. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Besthesda guidelines. J Natl Cancer Inst, 89, 1758-1762, 1997.

Roelfsema JH, Spruit EJM, Saris JJ, Chang PC, PirsonY,van Ommen GJB, Peters DJM, Breuning MH. Mutation detection in the repeated part of the PKD1 gene. Am J Hum Genet, 61, 1044-1052, 1997.

Roewer L, Kayser M, Dieltjes JLW, Nagy M, Bakker E, Krawczak M, de Knijff P. Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations Hum Mol Genet, 6, 828-828, 1997.

Smits R, van der Houven van Oordt CW, Williamson SL, Luz A, Khan PM, Fodde R, van der Eb AJ, Breuer ML. Intestinal and extra-intestinal tumor multiplicities in the Apc1628N mouse model after exposure to X-rays. Carcinogenesis, 18, 2197-2203, 1997.

Smits R, Kartheuser A, Jagmohan-Changur SC, Leblanc V, Breukel C, de Vries A, van Kranen H, van Krieken JHJM, Williamson SL, Edelmann W, Kucherlapati R, Meera Khan P, Fodde R. Loss of APC and the entire chromosome 18 but absence of mutations at the ras and tp53 genes in intestinal tumors from APC 1638n, a mouse model for APC driven carcinogenesis. Carcinogenesis, 18, 321-327, 1997.

Sorensen IK, Kristiansen E, Mortensen A, van Kranen H, van Kreijl C, Fodde R, Thorgeirsson SS. Short term carcinogenicity testing of a potent murine intestinal mutagen, 2 amino 1 methyl 6 phenylimidazo (4,5 b)pyridine (phip), in APC1638n transgenic mice. Carcinogenesis, 18, 777-781, 1997.

Stevens M, van Duijn CM, de Knijff P, van Broeckhoven C, Heutink P, Oostra BA, Niermeijer MF, van Swieten JC. Apoliprotein E gene and sporadic frontal lobe dementia. Neurology, 48, 1526-1529, 1997.

Taschner PEM, de Vos N, Breuning MH. Cross-species homlogy of the CLN3 gene. Neuropediatrics, 28, 18-20, 1997.

Taschner PEM, de Vos N, Breuning MH. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. J Med Genet, 34, 955-956, 1997.

Terwindt GM, Ophoff RA, Lindhout D, Haan J, Halley DJJ, Sandkuijl LA, Brouwer OF, Frants RR, Ferrari MD. Partial cosegregation of familial migraine and a benign familial epileptic syndrome. Epilepsia, 38, 915-921, 1997.

Terwindt GM, Haan J, Ophoff RA, Frants RR, Ferrari MD. The quest for migraine genes. Curr Opin Neurol, 10, 221-225, 1997.

Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Ellis R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Norby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJM. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet, 61, 547-555, 1997.

Vergouwe MN, Tijssen MAJ, Shiang R, van Dijk JG, Al Shahwan S, Ophoff RA, Frants RR. Hyperekplexia-like syndromes without mutations in the GLRA1 gene. Clin Neurol Neurosurg, 99, 172-178, 1997.

Vogler GP, Mc Clearn GE, Snieder H, Boomsma DI, Palmer R, de Knijff P, Slagboom PE. Genetics and behavioral medicine; risk factors for cardiovascular disease. Behav Med, 22, 141-149, 1997.

Vosse E van de, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJB, Ballabio A, den Dunnen JT, Bergen ABB. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis Hum Genet, 101, 235-237, 1997.

Vosse E van de, van der Bent P, Heus J, van Ommen GJB, den Dunnen JT. High-resolution mapping by YAC fragmentation of a 25Mb Xp22 region containing the human RS, KFSD and CLS disease genes. Mamm Genome, 8, 497-501, 1997.

Vries BB de, van den Ouweland AM, Mokhamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJJ, Sandkuijl LA, Oostra BA, Tibben A , Niermeijer MF. Screening and diagnosis for the fragile X syndrome among the mentally reatrded: an epidemiological and psychological survey. Am J Hum Genet, 61, 660-667, 1997.

Wijnen JT, Meera Khan P, Vasen HFA, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Moller P, Fodde R. Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch repair gene mutations. Am J Hum Genet, 61, 329-335, 1997.

Yang K, Edelmann W, Fan KH, Kolli V, Fodde R, Meera Khan P, Kucherlapati R, Lipkin M , Lau K. A mouse model of human familial adenomatous polyposis. J Exp Zool, 277, 245-254, 1997.

Zelderen-Bhola SL van, Breslau-Siderius EJ, Beverstock GC, Stolte-Dijkstra I, de Vries LS, Stoutenbeek PH, de Pater JM. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20)(p133;q133) detected by fluorescence in situ hybridization. Prenat Diagn, 17, 173-179, 1997.

Zoeren-Grobben D van, Houdkamp E, Moison RMW, Wijnen JT, Berger HM. Markers of oxidative stress and antioxydant activity in plasma and erythrocytes in neonatal respiratory stress syndrome. Acta Paediatr 86, 1356-1362, 1997.

Zwamborn-Hanssen AMN, Bijlsma JB, Hennekam EFAM, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CEM, Duran M, van Gennip AH, Mens J, Pearson PL, Mantel G, Verhage RE, Geraedts JPM. The Dutch uniform multicenter registration system for genetic disorder and malformation syndromes. Am J Med Genet, 70, 444-447, 1997.

Publicaties in andere tijdschriften
Pirson Y, Chauveau D, Breuning MH, Watson ML, Zeier M, Grunfeld JP. La polykystose autosomique dominante: progres cliniques et genetiques. Selections Medicine et Science, 5, 39-46, 1997.

Pirson Y, Chauveau D, Watson ML, Zeier M, Breuning MH. La polykystose autosomique dominante (PKAD): progres cliniques et genetiques. Selections Medicine et Science, 13, 37-44, 1997.

Andere academische publicaties
Bakker E, Jennekens FGI, Wintzen AR. Duchenne and Becker Muscular Dystrophies In: Emery AEH (ed). Diagnostic criteria for neuromuscular disorders, pp. 1-4, 1997. ISBN 1-85315-301-X

Bakker E. Wie is de vader? Wie is de dader? In: Kamp JJP van der, Cassiman JJ, Bennet DJ, van Ommen GJB (eds), Vragen over Erfelijkheid, pp. 117-125, 1997. ISBN 90-215-9288-6

Ommen GJB van. HUGO en het genoomonderzoek. In: Kamp JJP van der, Cassiman JJ, Bennet DJ, van Ommen GJB (eds). Vragen over Erfelijkheid, pp. 43-51, 1997. ISBN 90-215-9288-6

Ommen GJB van. Genen te koop. In: Kamp JJP van der, Cassiman JJ, Bennett DJ, van Ommen GJB (eds). Vragen over Erfelijkheid, pp. 99-107, 1997. ISBN 90-215-9288-6

Ommen GJB van, Bakker E. DNA-diagnostiek en de ontsluiting van het menselijk genoom. In Brandenburg H (ed), Prenatale diagnostiek, pp. 103-120, 1997. ISBN 90-313-2197-4

Proefschriften
Datson NA.Gene identification strategies and their use in the isolation of the Rieger syndrome gene. Promotores: GJB van Ommen, RR Frants. 1997.

Jong MC. The role of apolipoprotein C1 and apolipoprotein E in very low density lipoprotein metabolism as studied in transgenic mouse models. (Co-)promotores: AM Havekes, MH Hofker. 1997.

Ophoff RA. The molecular basis of familial hemiplegic migraine Migraine as a Ca2+ disorder. Promotor: RR Frants. 1997.

Reijden B van der. Molecular characterization of the inv(16) (p13q22) in acute myeloid leukemia. Promotores: GJB van Ommen, MH Breuning. 1997.

Roelfsema JH. The identification and molecular analysis of the PKD1 gene. Promotor: GJB van Ommen. 1997.

Roest P. Development and use of the protein truncation test and forced myo-differentiation in the study and diagnosis of muscular dystrophy. Promotor: GJB van Ommen. 1997.