Publications 1999


Department of Human Genetics


1999

Publicaties in ref. tijdschriften
Andres B de, Hagen M, Sandor M, Verbeek JS, Rokhlin OW, Lynch R. A regulatory role for Fc-gamma receptors (CD16 and CD32) in hematopoiesis Immunol Lett, 68, 09-113, 1999.

Baysal BE, van Schothorst E, Farr JE, Grashof P, Myssiorek D, Rubinstein WS, Taschner PEM, Cornelisse CJ, Devlin B, Devilee P , Richard CW 3rd. Repositioning the hereditary paraganglioma critical region on chromosome band 11q23. Hum Genet, 104, 219-225, 1999.

Beer F de, Hendriks WL, van Vark LC, Kamerling SWA, Willems van Dijk JAP, Hofker MH, Smelt AHM , Havekes LM. Binding of beta-VLDL to heparan sulfate proteoglycans requires lipoprotein lipase, whereas ApoE only modulates binding affinity. Arterioscler Thromb Vasc Biol, 19, 633-637, 1999.

Berg HM van, Bruin MC, Batelaan DN, van Delft P, van Zwieten R, Roos D, Harteveld CL, Bernini LF, Giordano PC. Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl. Hemoglobin, 23, 135-144, 1999.

Bergh A von, Emanuel B, Bhola SL, van Soest R, Smetsers T, Schuuring EMD, Hagemeijer, A, Kluin PM. A DNA probe combination for improved detection of MLL/11q23 breakpoints by FISH in acute leukaemias. Cytogenet Cell Genet, 85, 90-91, 1999.

Beverstock GC, Mollevanger P, Baaij M, Lind J, van Ieperen L, Bartelings MM, Teunissen, K, Brandenburg H, van Opstal D, Los F. Nasopharyngeal teratoma and mosaic tetrasomy 1q detected at amniocentesis A case report and review of the literature. Cancer Genet Cytogenet, 115, 11-18, 1999.

Bhola SL, Vink R, Smit J, Wessels JW, Morreau H. Translocations (X;10)(p22;q24) and (1;10)(q21;q11) in a follicular adenoma of the thyroid without apparent involvement of the RET protooncogene. Cancer Genet Cytogenet, 112, 178-180, 1999.

Bovee JVMG, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AHM, Bakker E, van Hul W, Cornelisse CJ, Hogendoorn PCW. EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas. Am J Hum Genet, 65, 689-698, 1999.

Calin G, Wijnen JT, van der Klift H, Ionita A, Mulder A, Breukel C, Smits MJM, Dauwerse JG, Hansson KBM, Calin S, Stefanescu D, Oproiu A , Fodde R. Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association? Eur J Hum Genet 7, 609-614, 1999.

Dauwerse JG, Smit EM, Giles RH, Slater R, Hagemeijer A, van der Reijden BA. Two-colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia. Br J Haematol, 106, 111-114, 1999.

Deutekom JCT van, Cao B, Pruchnic R, Wickham TJ, Kovesdi I, Huard J. Extended tropism of an adenoviral vector does not circumvent the maturation-dependent transducibility of mouse skeletal muscle. J Gene Med, 1, 393-399, 1999.

Devilee P. BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits. Am Hum Genet, 64, 943-948, 1999.

Dorsman JC, Smoor MA, Maat-Schieman MLC, Bout M, Siesling S, van Duinen SG, Verschuuren JJGM, den Dunnen JT, Roos RAC, van Ommen GJB. Analysis of the subcellular localization of huntingtin with a set of rabbit polyclonal antibodies in cultured mammalian cells of neuronal origin: comparison with the distribution of huntingtin in Huntington's disease autopsy brain. Philos Trans R Soc Lond B Biol Sci 354, 1061-1067, 1999.

Dunnen JT den. Cosmid-based exon trapping. Meth Enzymol, 303, 100-110, 1999.

Dunnen JT den , van Ommen GJB. The protein truncation test: A review. Hum Mutat, 14, 95-102, 1999.

Dijk MA van, Peters DJM, Breuning MH, Chang PC. The angiotensin-converting enzyme genotype and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc Nephrol, 10, 1916-1920, 1999.

Egmond M van, van Vuuren AJ, Morton HC, Spriel AB, Shen L, Hofhuis FM, Saito T, Mayadas TN, Verbeek JS, van de Winkel JG. Human immunoglobulin A receptor (FcalphaRI, CD89) function in transgenic mice requires both FcR gamma chain and CR3 (CD11b/CD18). Blood, 93, 4387-4394, 1999.

Escamilla MA, McInnes LA, Spesny M, Reus VI, Service SK, Shimayoshi N, Tyler DJ, Silva S, Molina J, Gallegos A, Meza L, Cruz ML, Batki S, Vinogradov S, Neylan T, Nguyen JB, Fournier E, Araya C, Barondes SH, Leon P, Sandkuijl LA, Freimer NB. Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. Am J Hum Genet, 64, 1670-1678, 1999.

Fodde R, Smits MJM, Hofland N, Kielman MF, Meera Khan P. Mechanisms of APC-driven tumorigenesis: lessons from mouse models. Cytogenet Cell Genet, 86, 105-111, 1999.

Frants RR. The use of isolates in migraine genetic research. Cephalalgia, 19, 19-21, 1999.

Gabriels J, Beckers MC, Ding H, de Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 33 kb element. Gene, 236, 25-32, 1999.

Geel M van, Heather LJ, Lyle R, Hewitt JE, Frants RR, de Jong PJ. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics, 61, 55-65, 1999.

Giltay JC, Kastrop PMM, Tuerlings JHAM, Kremer JAM, Tiemessen CHJ, Gerssen-Schoorl KBJ, van der Veen F, de Vries J, Hordijk R, Hamers GJH, Hansson KBM, van der Blij-Philipsen M, Govaerts LCP, Pieters MHEC, Madan K, Scheres JMJC. Sybfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on Dutch patients. Hum Reprod, 14, 318-320, 1999.

Giordano PC, Harteveld CL, Bok LA, van Delft P, Batelaan DN, Beemer FA, Bernini LF. A complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassemia homozygosity. Eur J Hum Genet, 7, 163-168, 1999.

Giordano PC, van Delft P, Batelaan DN, Harteveld, CL , Bernini, LF. Haemoglobinopathy analyses in the Netherlands: a report of an in vitro globin chain biosynthesis survey using a rapid, modified method. Clin Lab Haematol, 21, 247-255, 1999.

Giordano PC, Harteveld CL, Bernini LF, Doorduijn JK, Geenen AA, Kok PJ , Versteegh FG. Haplotype analysis of two new, independent cases of Hb Osu-Christiansborg. Hemoglobin, 23, 193-195, 1999.

Giordano PC, Harteveld CL, Doorduijn JK, Geenen AA, Kok PJMJ, Versteegh FGA, Batelaan DN, van Delft P, Bernini LF. Hb-OSU Christiansborg: a rare abnormal hemoglobin observed in two independent families in The Netherlands. Ned Tijdschr Klin Chemie, 287-291, 1999.

Greene ND, Bernard DL, Taschner PEM, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metabol, 66, 309-313, 1999.

Grewal PK, van Geel M, Frants RR, de Jong PJ, Hewitt JE. Recent amplification of the human FRG1 gene during primate evolution. Gene, 227, 79-88, 1999.

Gruis NA, van der Velden PA, Bergman W, Frants RR. Familial melanoma; CDKN2A and beyond. J Invest Dermatol, 4, 50-54, 1999.

Gijbels MJJ, van der Cammen M, van der Laan LJ, Emeis JJ, Havekes LM, Hofker MH, Kraal G. Progression and regression of atherosclerosis in APOE3-Leiden transgenic mice: an immunohistochemical study. Atherosclerosis, 143, 15-25, 1999.

Haan J, Terwindt GM, Maassen JA, ‘t Hart LM, Frants RR, Ferrari MD. Search for mitochondrial DNA mutations in migraine subgroups. Cephalalgia, 19, 20-22, 1999.

Hart LM ‘t, de Knijff, Dekker JM, Stolk RP, Nijpels G, van der Does FE, Ruige JB, Grobbee DE, Heine RJ , Maassen JA. Variants in the sulphonylurea receptor gene: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians. Diabetologia, 42, 617-620, 1999.

Hateboer N, van Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning MH , Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2 European PKD1-PKD2 Study Group. Lancet, 353, 103-107, 1999.

Helderman-Van den Enden ATJM, Maaswinkel-Mooij PD, Hoogendoorn E, Willemsen R, Maat-Kievit JA, Losekoot M , Oostra BA. Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities. J Med Genet, 36, 253-257, 1999.

Hille ET, Snels DGCTM, Gruis NA, Bergman W. Risk of cutaneous malignant melanoma in patients with nonfamilial atypical nevi from a pigmented lesions clinic. J Am Acad Dermatol, 40, 686-693, 1999.

Honda K, Roewer L , de Knijff P. Male DNA typing from 25-year-old vaginal swabs using Y chromosomal STR polymorphisms in a retrial request case. J Forensic Sci, 44, 868-872, 1999.

Hoogerwaard EM, van der Wouw PA,Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord, 9, 347-351, 1999.

Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, van Essen AJ, Brunner HG, van der Wouw PA, Wilde AA. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet, 353, 2116-2119, 1999.

Horst GT van der, Muijtjens M, Kobayashi K, Takano R, Kanno S, Takao M, de Wit J, Verkerk JMH, Eker AP, van Leenen DBuijs R, Bootsma D, Hoeijmakers JHJ, Yasui A. Mammalian Cry1 and Cry2 are essential for maintenance of circadian rhythms. Nature, 398, 627-630, 1999.

Houlden H, Rizzu P, Stevens M, de Knijff P, van Duijn CM, van Swieten JC, Heutink P, Perz-Tur J, Thomas V, Baker M, Morris H, Rossor M, Jannsen JC, Petersen RC, Dodd P, Dark F, Boeve B, Dickson D, Davies P, Pickering-Brown S, Mann D, Adamson J, Lynch T, Payami H, Hardy J. Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations. Neurosci Lett, 260, 193-195, 1999.

Houven van Oordt CW van der, Smits MJM, Schouten TG, Houwing-Duistermaat JJ, Williamson SL, Luz A, Meera Khan P, van der Eb AJ, Breuer ML , Fodde R. The genetic background modifies the spontaneous and X-ray-induced tumor spectrum in the Apc1638N mouse model. Genes Chromosomes Cancer, 24, 191-198, 1999.

Jobling MA, Heyer E, Dieltjes JLW, de Knijff P. Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1. Hum Mol Genet, 8, 2117-2020, 1999.

Jong MC, Willems van Dijk JAP, Dahlmans VEH, van der Boom H, Kobayashi K, Oka K, Siest G, Chan L, Hofker MH, Havekes LM. Reversal of hyperlipidaemia in apolipoprotein C1 transgenic mice by adenovirus-mediated gene delivery of the low-density-lipoprotein receptor, but not by the very-low-density-lipoprotein receptor. Biochem J, 338, 281-287, 1999.

Jong MC, Hofker MH, Havekes LM. Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Arterioscler Thromb Vasc Biol, 19, 472-484, 1999.

Karafet TM, Zegura SL, Posukh O, Osipova L, Bergen A, Long J, Goldman D, Klitz W, Harihara S, de Knijff P, Wiebe V, Griffiths RC, Templeton AR, Hammer MF. Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. Am J Hum Genet, 64, 817-831, 1999.

Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont A-C, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Meera Khan P, Curtis A, Burn J, Fodde R , Verellen-Dumoulin C. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation. J Med Genet, 36, 65-67, 1999.

Keblusek P, Dorsman JC, Teunisse AFAS, Teunissen H, van der Eb AJ, Zantema A. The adenoviral E1A oncoproteins interfere with the growth-inihibitng effect of the cdk-inhibitor p21 (C1P1/WAF1). J Gen Virol, 80, 381-390, 1999.

Kohlase J, Taschner PEM, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy PD, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome Am J Hum Genet, 64, 435-445, 1999.

Koning Gans PAM de, Ginjaar HB, Bakker E, Yates JR, den Dunnen JT. A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. Neuromuscul Disord, 9, 247-250, 1999.

Lahermo P, Savontaus ML, Sistonen P, Beres J, de Knijff, Aula P, Sajantila A. Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. Eur J Hum Genet 7, 447-458, 1999.

Launonen V, Laake K, Huusko P, Nierderacher D, Beckmann MW, Barkardottir RB, Geirsdottir EK, Gudmundson J, Rio P, Bignon Y-J, Seitz S, Scherneck S, Bieche I, Champeme MH, Birnbaum D, White G, Varley J, Sztan M, Olah E, Osorio A, Benitez J, Spurr NK, Velikonja N, Peterlin B, Borg A, Cleton-Jansen AM, Devilee P, Bloigu R, Lidereau R, Borresen-Dale AL, Winqvist R. European multicenter study on LOH of APOC3 at 11q23 in 766 breast cancer patients: relation to clinical variables. Br J Cancer, 80, 879-882, 1999.

Le Saux O, Urban Z, Goring HH, Cziszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning MH, van den Berg P, Kormet L, Ott J, de Jong PT, Bergen AA, Boyd CD. Pseudoxanthoma elasticum maps to an 820-kb region of the p131 region of chromosome 16. Genomics, 62, 1-10, 1999.

Ligtenberg MJL, Hogervorst FBL, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, Hoefsloot EH, Mariman ECM, Brunner HG, van ‘t Veer LJ. Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. Br J Cancer, 79, 1475-1478, 1999.

Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, van der Meer CA, Devilee P, Cornelisse CJ, Niermeijer MF. Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group. J Med Genet, 36, 906-913, 1999.

Loop FT van der, Monnens LA, Schroder CH, Lemmink HH, Breuning MH, Timmer ED , Smeets HJ. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int, 55, 1217-1224, 1999.

Losekoot M, Bakker E, Laccone F, Stenhouse S, Elles R. A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Hum Genet, 7, 217-222, 1999.

Maarel SM van der, Deidda G, Lemmers RJLF, Bakker E, van der Wielen MJR, Sandkuijl LA, Hewitt JE, Padberg GW, Frants RR. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet, 36, 823-828, 1999.

Maat MP de, Bladbjerg EM, Johansen LG, de Knijff P, Gram J, Kluft C, Jespersen J. DNA-polymorphisms and plasma levels of vascular disease risk factors in Greenland Inuit--is there a relation with the low risk of cardiovascular disease in the Inuit? Thromb Haemost, 81, 547-552, 1999.

Maat-Kievit A, Vegter-van der Vlis M, Zoeteweij MW, Losekoot M, van Haeringen A, Kanhai HHH, Roos RAC. Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997). Prenat Diagn, 19, 450-457, 1999.

Maat-Kievit A, Vegter-van der Vlis M, Zoeteweij MW, Losekoot M, van Haeringen A, Roos RAC. Predictive testing of 25 percent at-risk individuals for huntington disease (1987-1997) Am J Med Genet, 88, 662-668, 1999.

Maat-Schieman MLC, Dorsman JC, Smoor MA, Siesling S, van Duinen SG, Verschuuren JJGM, den Dunnen JT, van Ommen GJB, Roos RAC. Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain. J Neuropathol Exp Neurol, 58, 129-137, 1999.

MacArthur DL, de Koning EJ, Verbeek JS, Morris JF, Clark A. Amyloid fibril formation is progressive and correlates with beta-cell secretion in transgenic mouse isolated islets. Diabetologia, 42, 1219-1227, 1999.

Menko FH, Griffioen G, Wijnen JT, Tops CJM Fodde R, Vasen HJA. Genetics of colorectal cancer I Non-polyposis and polyposis forms of hereditary colorectal cancer. Ned Tijdschr Geneeskd, 143, 1201-1206, 1999.

Menko FH, Griffioen G, Wijnen JT, Tops CJM, Fodde R, Vasen HJA. Genetics of colorectal cancer II Hereditary background of sporadic and familial colorectal cancer. Ned Tijdschr Geneeskd, 143, 1207-1211, 1999.

Mensenkamp AR, Jong MC, Goor H, Luyn MJ, Bloks V, Havinga R, Voshol PJ, Hofker MH, Willems van Dijk JAP, Havekes LM, Kuipers F. Apolipoprotein E participates in the regulation of very low density lipoprotein-triglyceride secretion by the liver. J Biol Chem, 274, 35711-35718, 1999.

Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PEM , Nussbaum RL. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol Disord, 6, 321-334, 1999.

Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics, 58, 65-72, 1999.

Nijmeijer BA, Scheepens PWMH, Bhola SL, Kluin-Nelemans JC, Willemze R , Falkenburg JHF. Characterization of a novel humanCD45 negative B lineage acute lymphoblastic leukemia cell line highly sensitive to il-4 and containing +i(21q). Exp Hematol, 27, 74-75, 1999.

Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers ALJ, Frants RR, Breuning MH, Haan J. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients Dutch CADASIL Research Group. Neurology, 52, 1913-1915, 1999.

Ommen GJB van, Bakker E, den Dunnen JT. The human genome project and the future of diagnostics, treatment, and prevention. Lancet, 354, 5-10, 1999.

Ommen GJB van. Commentary on the current role of human genetics in health care. Cytogenet Cell Genet, 86, 140-141, 1999.

Park J-G, Vasen HJA, Park KJ, Peltomaki P, Ponz de Leon M, Rodriguez-Bigas MA, Lubinski J, Beck NE, Bisgaard ML, Miyaki M, Wijnen JT, Baba S, Lynch HT. Suspected collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC) criteria and results of genetic diagnosis. Dis Colon Rectum, 42, 710-716, 1999.

Peters DJM, van de Wal A, Spruit EJM, Saris JJ, Breuning MH, Bruijn JA, de Heer E. Cellular localization and tissue distribution of polycystin-1. J Pathol, 188, 439-446, 1999.

Pospelova TV, Medvedev AV, Kukushkin AN, Svetlikova SB, van der Eb AJ, Dorsman JC, Pospelov VA. E1A + cHa-ras transformed rat embryo fibroblast cells are characterized by high and constitutive DNA binding activities of AP-1 dimers with significantly altered composition. Gene Expr, 8, 19-32, 1999.

Regnauld A, Lanker D, Lacabanne V, Rodriguez A, Thery C, Rescigno M, Saito T, Verbeek JS, Bonnerot C, Riccardi-Castagnoli P, Amigorena S. Fc-gamma receptor-mediated induction of dendritic cell maturation and major histocompatiblity complex class I-restricted antigen presentation after immune complex internalization. J Exp Med, 189, 371-380, 1999.

Reijden BA van der, Dauwerse JG, Giles RH, Jagmohan-Changur SC, Wijmenga C, Liu PP, Smit B, Wessels JW, Beverstock GC, Jotterand-Bellomo M, Martinet D, Muhlematter D, Lafage-Pochitaloff M, Gabert J, Reiffers J, Bilhou-Nabera C, van Ommen GJB, Hagemeijer A, Breuning MH. Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered. Oncogene, 14, 543-550, 1999.

Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino CG, Peters DJM , Somlo S. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J Am Soc Nephrol, 10, 2342-2351, 1999.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen, JE, Anderson, LV, Beley, C, Cobo, AM, Diego, C de, Eymard, B, Gallano P, Lasa A, Ginjaar HB, Pollitt C, Topaloglu H, Urtizberea JA, van der Kooi AJ, Bushby K, Bakker E, Lopez de Munain A, Fardeau M , Beckmann JS. Calpainopathy-a survey of mutations and polymorphisms Am J Hum Genet, 64, 1524-1540, 1999.

Roest P, Bakker E, Fallaux FJ, Verellen-Dumoulin C, Murray CE, de Dunnen JT. New possibilities for prenatal diagnosis of muscular dystrophies: forced myogenesis with an adenoviral MyoD-vector. Lancet, 353, 727-728, 1999.

Roos D, van Zwieten R, Wijnen JT, Gomez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T, van Noorden CJF, Weening RS, Vulliamy TJ, Ploem JE, Mason PJ, Bautista JM, Khan PM, Beutler E. Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase Volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased insusceptibility to infections. Blood, 9, 2955-2962, 1999.

Schothorst E van, Prins DE, Baysal BE, BeckmanM, Licht JD, Waxman S, Zelent A, Cornelisse CJ, van Ommen GJB, Richard CW 3rd, Devilee P. Genomic structure of the human PLZF gene. Gene, 236, 21-24, 1999.

Service SK, Temple Lang DW, Freimer NB, Sandkuijl LA. Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations. Am J Hum Genet, 64, 1728-1738, 1999.

Shugart YY, Cour C, Renard H, Lenoir G, Goldgar D, Teare D, Easton D, Rahman N, Gusterston R, Seal S, Barfoot R, Stratton M, Mangion J, Peelen T, van den Ouweland A, Meijers H, Devilee P, Eccles D, Lynch H, Weber B, Stoppa-Lyonnet D, Bignon Y-J, Chang-Claude J. Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. J Med Genet, 36, 720-721, 1999.

Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl, 22, 292-299, 1999.

Slooten HJ van, Vijver MJ, Borresen A-L, Eyfjord JE, Valgardsdottir R, Scherneck S, Nesland JM, Devilee P, Cornelisse CJ, van Dierendonck JH. Mutations in exons 5-8 of the p53 gene, independent of their type and location, are associated with increased apoptosis and mitosis in invasive breast carcinoma. J Pathol, 189, 504-513, 1999.

Smits MJM, Kielman MF, Breukel C, Zurcher C, Neufeld K, Jagmohan-Changur SC, Hofland N, van Dijk J, White R, Edelmann W, Kucherlapati R, Meera Khan P, Fodde R. Apc1638T: a mouse model delineating critical domains of the adenomatous polyposis coli protein involved in tumorigenesis and development. Genes Dev, 13, 1309-1321, 1999.

Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PEM, O'Regan M, Naismith K, Crow YJ, Mitchison HM. The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. Mol Genet Metabol, 66, 245-247, 1999.

Stevens-Kroef M, van den Berg-de Ruiter E, van der Blij-Philipsen M, Geurts van Kessel A, Hagemeijer A, Schouten H, Slater R, Bhola SL. Translocation (2;3) p15~23;q26~27) is a non-random karyotypic abnormality associated with myeloid leukaemia. Cytogenet Cell Genet, 85, 15-16, 1999.

Stout K, van der Maarel SM, Frants RR, Padberg GW, Ropers HH, Haaf T. Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease? Chromosome Res, 7, 323-329, 1999.

Sijbrands EJG, Hoffer M, Meinders AE, Havekes LM, Frants RR, Smelt AHM, de Knijff P. Severe hyperlipidemia in apolipoprotein E2 homozygotes due to a combined effect of hyperinsulinemia and an SstI polymorphism. Arterioscler Thromb Vasc Biol, 19, 2722-2729, 1999.

Taschner PEM, Franken PF, van Berkel L, Breuning MH. Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands. Mol Genet Metabol, 66, 339-343, 1999.

Theuns J, Cruts M, Del-Favero J, Goossens D, Dauwerse JG, Wehnert A, den Dunnen JT, van Broeckhoven C. Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA. Mamm Genome, 10, 410-414, 1999.

Traeger-Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis Ch, Bernini LF. Hb Aghia Sophia [alpha62(E11)Val®0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. Hemoglobin, 23, 317-324, 1999.

Vasen HJA, Wijnen JT. Clinical implications of genetic testing of hereditary nonpolyposis colorectal cancer. Cytogenet Cell Genet, 86, 136-139, 1999.

Velden PA van der, Sandkuijl LA, Bergman W, Hille ET, Frants RR, Gruis NA. A locus linked to p16 modifies melanoma risk in Dutch familial atypical multiple mole melanoma (FAMMM) syndrome families. Genome Res, 9, 575-580, 1999.

Veldhuisen B, Spruit EJM, Dauwerse JG, Breuning MH, Peters DJM.Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).Eur J Hum Genet, 7, 860-872, 1999.

Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR.Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. Ann Neurol, 46, 634-638, 1999.

Verhoog LC, Brekelmans CT, Seynaeve C, Dahmen G, van Geel AN, Bartels CC, Tilanus-Linthorst MM, Wagner A, Devilee P, Halley DJJ, van den Ouweland AM, Meijers-Heijboer EJ, Klijn. JG Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol, 17, 3396-3402, 1999.

Vries BB de, Kleijer WJ, Keulemans JLM, Voznyi YV, Franken PF, Eurlings MCM, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PEM, van Diggelen OP. First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenat Diagn, 19, 559-562, 1999.

Vries E de, Noordzij JG, Davies EG, Hartwig N, Breuning MH, van Dongen JJ, van Tol MJ. The 78C®T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. Blood, 94, 1488-1490, 1999.

Watanabe N, Akikusa B, Park SY, Ohno H, Fossati L, Vecchietti G, Gessner JE, Schmidt E, Verbeek JS, Ryffel B, Iwamoto I, Izui S, Saito T. Mast cells induce autoantibody-mediated vasculitis syndrome through tumor necrosis factor production upon triggering Fcgamma receptors. Blood, 94, 3855-3863, 1999.

Weel M van, HarteveldCL, Bernini LF, Brouwers ThM, Giordano PC. The second case of dominant beta-thalssemia induced by the codon 127 (CAG®TAG) described as a de novo mutation in a Dutch boy. Hemoglobin, 23, 389-393, 1999.

Wernersson S, Karlsson MC, Dahlstrom J, Mattson R, Verbeek JS, Heyman B. IgG-mediated enhancement of antibody responses is low in Fc receptor gamma chain-deficient mice and increased in Fc gamma RII-deficient mice. J Immunol, 163, 618-622, 1999.

Wielenga VJ, Smits MJM, Korinek V, Smit L, Kielman MF, Fodde R, Clevers HC, Pals ST. Expression of CD44 in Apc and Tcf mutant mice implies regulation by the WNT pathway. Am J Pathol, 154, 515-523, 1999.

Willems van Dijk JAP, van Vlijmen BJM, de Winther MPJ, van ‘t Hof BH, van der Zee A, van der Boom H, Havekes LM, Hofker MH Hyperlipidemia of ApoE2(Arg(158)-Cys) and ApoE3-Leiden transgenic mice is modulated. predominantly by LDL receptor expression. Arterioscler Thromb Vasc Biol, 19, 2945-2951, 1999.

Willems van Dijk JAP, van Vlijmen BJM, van ‘t Hof HB, van der Zee A, Santamarina-Fojo S, van Berkel TJC, Havekes LM, Hofker MH. In LDL receptor-deficient mice, catabolism of remnant lipoproteins requires a high level of apoE but is inhibited by excess apoE. J Lipid Res, 40, 336-344, 1999.

Williamson SL, Kartheuser A, Coaker J, Kooshkghazi MD, Fodde R, Burn J, Mathers JC. Intestinal tumorigenesis in the Apc1638N mouse treated with aspirin and resistant starch for up to 5 months. Carcinogenesis, 20, 805-810, 1999.

Winther MPJ de, Willems van Dijk JAP, van Vlijmen BJM, Gijbels MJJ, Heus J, Wijers ER, van den Bos AC, Breuer ML, Frants RR, Havekes LM, Hofker MH. Macrophage specific overexpression of the human macrophage scavenger receptor in trans mice, using a 180-kb yeast artificial chromosome, leads to enhanced foam cell formation of isolated peritoneal macrophages. Atherosclerosis, 147, 339-347, 1999.

Winther MPJ de, Gijbels MJJ, Willems van Dijk JAP, van Gorp PJJ, Suzuki H, Kodama T, Frants RR, Havekes LM, Hofker MH. Scavenger receptor deficiency leads to more complex atherosclerotic lesions in APOE3Leiden transgenic mice. Atherosclerosis, 144, 315-321, 1999.

Wijnen JT, de Leeuw W, Vasen HJA, van der Klift H, Moller P, Stormorken A, Meijers-Heijboer EJ, Lindhout D, Menko F, Vossen S, Moslein G, Tops CJM, Brocker-Vriends A, Wu Y, Hofstra R, Sijmons R, Cornelisse CJ, Morreau H, Fodde R. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nature Genet, 23, 142-144,1999.

Publicaties in andere tijdschriften
Bernini LF, Harteveld CL. Alpha-thalassemia. Baillière’s best practice in clinical hematology, pp. 53-90, 1999. ISSN 0950-3536

Gerefereerde conferenties
Breuning MH. Huidige mogelijkheden van diagnostisch onderzoek. In: Bolk JH (ed). Vorderingen en praktijk, pp. 3-9, 1999. ISBN 90-6767-436-2.

Giordano PC. Preventie van hemoglobinopathieen in Nederland. In: Bolk JH (ed). Vorderingen en praktijk, pp. 91-113, 1999. ISBN 90-6767-436-2.

Ommen GJB van. Het humane genoom project en de toekomst van diagnostiek, behandeling en preventie. In: Bolk JH (ed). Vorderingen en praktijk, pp. 69-79, 1999. ISBN 90-6767-436-2.

Ommen GJB van. Genoom en Geneeskunde. In: Furth R van (ed). Natuurkundige voordrachten, pp. 15-20, 1999. ISBN 90-72644-11-5

Proefschriften
Winther MPJ de. The role of the macrophage scavenger receptor class A in atherosclerosis. (Co-)Promotoren: LM Havekes, MH Hofker. 1999.

Wijnen JT. Molecular genetics of hereditary non-polyposis colorectal cancer. Promotor: GJB van Ommen. 1999.

Patenten
Dunnen JT den, Datson NA, Dauwerse JG, van Ommen GJB. Method of isolating exonic gene segments of eukaryotic genes, exon trapping vectors for use therein. US patent nr. US005928867A, 1999.