Publications 1996


Department of Human Genetics


1996

Publicaties in ref. tijdschriften
Abels J, Michiels JJ, Giordano PC, Bernini LF, Baysal E, Smetanina NS, Kazanetz EG, Leonova JY, Huisman THJ. A de novo deletion causing gamma delta beta-thalassemia in a Dutch patient. Acta Haematol, 96, 108-109, 1996.

Aygun V, van Zwieten R, Pronk-Admiraal CJ, Ponjee GAE, de Regt J, Harteveld CL, Giordano PC, Roos D. A Dutch family with Hb Atlanta [b75(E19)Leu®Pro]. Hemoglobin, 20, 351-359, 1996.

Baba S, Kraus C, Wijnen J, Meera Khan P, Ballhausen WG. Multiple products in the protein trucation test due to alternative splicing in the adenomatous polyposis coli (APC) gene. Hum Genet, 98, 528-533, 1996.

Bakker E, van der Wielen MJR, Voorhoeve E, Ippel PF, Padberg GWAM, Frants RR, Wijmenga C. Diagnostic, predictive and prenatal testing for facioscapulohumeral muscular dystrophy, diagnostic approach for sporadic and familial cases. J Med Genet, 33, 29-35, 1996.

Bergman W, Gruis N. Familial melanoma and pancreatic cancer. N Eng J Med, 334, 471-472, 1996.

Beverstock GC, de Meijer PHEM, ten Bokkel Huinink D, Pruijt JFM, den Ottolander GJ, Wessels HW, Mollevanger P. A case of isodicentric 7p as sole abnormality in a patient with acute myeloid leukemia. Cancer Genet Cytogenet, 89, 132-135, 1996.

Boomsma DI, Kempen HJM, Gevers Leuven JA, Havekes LM, de Knijff P, Frants RR. Genetic analysis of sex and generation differences in plasma lipid, lipoprotein and apolipoprotein levels in adolescent twins and their parents. Genet Epidemiol, 13, 49-60, 1996.

Bronzova J, van Duijn CM, Havekes LM, de Knijff P, van Broeckhoven C, Hofman A. Apolipoprotein E genotype and concomitant clinical features in early-onset Alzheimer's disease. Neurology, 243,465-468, 1996.

Clépet C, Dauwerse JG, Desmaze C, van Ommen GJB, Weissenbach J, Morisette J. A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25. Eur J Hum Genet, 4, 250-259, 1996.

Coignet LJA, Schuuring E, Kibbelaar RE, Raap TK, Kleiverda KK, Bertheas M-F, Wiegant J, Beverstock G, Kluin PM. Detection of 11q13 rearrangements in hematologic neoplasias by double-color fluorescence in situ hybridization. Blood, 87, 1512-1519, 1996.

Cornelisse CJ, Cornelis RS, Devilee P. Genes responsible for familial breast cancer. Pathol Res Pract, 192, 684-693, 1996.

Couch FJ, Weber BL, Borresen AL, Brody L, Casey G, Devilee P, Fitzgerald M, Friend S, Gayther S, Goldgar D, Murphy P, Szabo C, Weber B, Wiseman R, Anderson T, Durocher F, Ganguly A, King MC, Lenoir G, Narod S, Olopade O, Plummer S, Ponder B, Serova O, Simard J, Stratton M, Warren B. Mutations and polymorphisms in the familial early onset breast cancer (BRCA1) gene. Hum Mutat, 8, 8-18, 1996.

Datson NA, Semina E, van Staalduinen AA, Dauwerse JG, Meershoek EJ, Heus JJ, Frants RR, den Dunnen JT, Murray JC, van Ommen GJB. Closing in on the Rieger syndrome gene on 4q25, mapping translocation breakpoints within a 50 kb region. Am J Hum Genet, 59, 1297-1305, 1996.

Datson NA, van de Vosse E, Dauwerse JG, Bout M, van Ommen GJB, den Dunnen JT. Scanning for genes in large genomic regions, cosmid-based exon trapping of multiple exons in a single product. Nucl Acids Res, 24, 1105-1111, 1996.

Deutekom JCT van, Bakker E, Lemmers RJL, van der Wielen MJR, Bik E, Hofker MH, Padberg GWAM, Frants RR. Evidence for telomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26, implications for genetic counselling and etiology of FSHD1. Hum Mol Genet, 5, 1997-2003, 1996.

Deutekom JCT van, Lemmers RJL, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GWAM, Hofker MH, Hewitt JE, Frants RR. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet, 5, 581-590, 1996.

Doggett NA, Breuning MH, Callen DF. Report of the fourth international workshop on human chromosome 16 mapping 1995. Cytogenet Cell Genet, 72, 271-293, 1996.

Dudok de Wit AC, Tibben A, Frets PG, Meijers-Heijboer EJ, Devilee P, Niermeijer MF. Males at-risk for the BRCA1-gene, the psychological impact. Psychoncology, 5, 251-257, 1996.

Eccles DM, van der Luijt RB, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, Du Boulay C, Primrose J, Burn J, Fodde R. Hereditary dismoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet, 59, 1193-1201, 1996.

Florijn RJ, van de Rijke FM, Vrolijk H, Blonde LAJ, Hofker MH, den Dunnen JT, Tanke HJ, van Ommen GJB, Raap AK. Exon mapping by Fiber-FISH or LR-PCR. Genomics, 38, 277-282, 1996.

Giordano PC, Harteveld CL, Brand A, Willems LNA, Kluin-Nelemans HC, Plug RJ, Batelaan DN, Bernini LF. Hb Malmö [b-97(FG-4)HissGln] leading to polycythemia in a Dutch family. Ann Hematol, 73, 183-188, 1996.

Giordano PC, Harteveld CL, Kok PJMJ, Geenen A, Batelaan D, Amons R, Bernini LF. HB Gouda [a72(EF1)HIS®GLN], a new silent a chain variant. Hemoglobin, 20, 21-29, 1996.

Groot-Phe, van Vlijmen BJM, Benson GM, Hofker MH, Schiffelers R, Vidgeonhart M, Havekes LM. Quantitative assessment of aortic atherosclerosis in apoe asterisk 3 leiden transgenic mice and its relationship to serum cholesterol exposure. Arterioscler Thromb Vasc Biol, 16, 926-933, 1996.

Hart LM 't, Jansen JJ, Lemkes HHPJ, de Knijff P, Maasen JA. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat, 7,193-197, 1996.

Harteveld CL, Giordano PC, Losekoot M, Heister JGAM, Batelaan D, van Delft P, Bruin MCA, Bernini LF. Hb Utrecht [a2 129(H12)Leu®Pro], a new unstable a2-chain variant associated with a mild a-thalassaemic phenotype. Br J Haematol, 94, 483-485, 1996.

Harteveld CL, Heister JGAM, Giordano PC, Batelaan DN, van Delft P, Haak H, Wijermans PW, Losekoot M, Bernini LF. An IVS1-116 (A®G) acceptor splice site mutation in the a2 globin gene causing a+ thalassaemia in two Dutch families. Br J Haematol, 95, 461-466, 1996.

Harteveld CL, Heister JGAM, Giordano PC, Losekoot M, Bernini LF. Rapid detection of point mutations and polymorphisms of the a-globin genes by DGGE and SSCA. Hum Mutat, 7, 114-122, 1996.

Heutink P, van de Wetering BJM, Pakstis AJ, Kurlan R, Sandor P, Oostra BA, Sandkuijl LA. Linkage studies on Gilles de la Tourette syndrome, what is the strategy of choice? Am J Hum Genet, 57, 465-473, 1996.

Hoffer MJV, Bredie SJH, Boomsma DI, Reymer PWA, Kastelein JJP, de Knijff P, Demacker PNM, Stalenhoef AFH, Havekes LM, Frants RR. The lipoprotein lipase (Asn291®Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia. Atherosclerosis, 119, 159-167, 1996.

Hoffer MJV, Niththyananthan S, Naoumova RP, Kibirige MS, Frants RR, Havekes LM, Thompson GR. Apolipoprotein E1-Hammersmith (Lys146®Asn,Arg147®Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia. Atherosclerosis, 124, 183-189, 1996.

Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland AMW, Buiting K, Lich C, Mollevanger P, Beverstock GC, Gillessen-Kaesbach G, Schwanitz G. Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. J Med Genet, 33, 848-851, 1996.

Jong MC, Dahlmans VEH, van Gorp PJJ, Breuer ML, Mol MJTM, van der Zee A, Frants RR, Hofker MH, Havekes LM. Both lipolysis and hepatic uptake of VLDL are impaired in transgenic mice coexpressing human apolipoprotein E asterisk 3leiden and human apolipoprotein c1. Arterioscler Thromb Vasc Biol, 16, 934-940, 1996.

Jong M, Dahlmans V, van Gorp P, Willems van Dijk K, Breuer M, Hofker M, Havekes LM. In the absence of low density lipoprotein receptor, human apolipoprotein C1 overexpression in transgenic mice inhibits the hepatic uptake of very low density lipoproteins via a receptor associated protein (RAP)-sensitive pathway. J Clin Invest, 98, 2259-2267, 1996.

Kielman MF, Smits R, Hof I, Bernini LF. Characterisation and comparison of the human and mouse Dist1/a-globin complex reveals a tightly packed multiple gene cluster containing differentially expressed transcription units. Genomics, 32, 341-351, 1996.

Knijff P de, Havekes LM. Apolipoprotein E as a risk factor for coronary heart disease, a genetic and molecular biology approach. Curr Opin Lipidol, 7, 59-63, 1996.

Kohonen-Corish M, Ross VL, Doe WF, Kool DA, Edkins E, Faragher I, Wijnen JTh, Meera Khan P, Macrae F, St. John DJB. RNA-based mutation screening in hereditary nonpolyposis colorectal cancer. Am J Hum Genet, 59, 818-824, 1996.

Kok YJM de, Vossenaar ER, Cremers CWRJ, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander H-J, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FPM. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet, 5, 1229-1235, 1996.

Kooi AJ van der, Barth PG, Busch HFM, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJMA, Howeler CJ, Jennekens FGI, Jongen P, Oosterhuis HJGH, Padberg GWAM, Spaans F, Wintzen AR, Wokke JHJ, Bakker E, van Ommen GJB, Bolhuis PA, de Visser M. The clinical spectrum of limb girdle muscular dystrophy, a survey in the Netherlands. Brain, 119, 1471-1480, 1996.

Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JAM, Hamel BCJ, Jansen C, Mariman ECM, Frants RR, Padberg GWAM. Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet, 5, 1367-1371, 1996.

Kuipers F, van Ree JM, Hofker MH, Wolters H, Veld GI, Havinga R, Vonk RJ, Princen HMG, Havekes LM. Altered lipid metabolism in apolipoprotein e deficient mice does not affect cholesterol balance across the liver. Hepatology, 24, 241-247, 1996.

Lemmink HH, van den Heuvel LPWJ, van Dijk HA, Merkx GFM, Smilde TJ, Taschner PEM, Monnens LAH, Hebert SC, Knoers NVAM. Linkage of Gitelman syndrome to the thiazide sensitive sodium chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol, 10, 403-407, 1996.

Levesley I, Newton GH, Lamb HK, Schothorst E van, Dalgleish RWM, Samson ACR, Roberts CF, Hawkins AR. Domain structure and function within the QUTA protein of Aspergillus nidulans, implications for the control of transcription. Microbiology, 142, 87-98, 1996.

Luijt RB van der, Meera Khan P, Breukel C, Tops CMJ, Vasen HFA, Scott RJ, Fodde R. Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associate with Attenuated Adenomatous Polyposis Coli. Hum Genet, 98, 727-734, 1996.

Masana L, Farinaro E, de Henauw S, Nicaud V, on behalf of the EARS group (including de Knijff P). Blood pressure in young adults with and without paternal history of premature coronary heart disease in Europe, the EARS study. J Hum Hypertens, 10, 207-213, 1996.

McGraughran JM, Gaunt L, Dore J, Petrij F, Dauwerse JG, Donnai D. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3, two UK patients. J Med Genet, 33, 82-83, 199.

Menko FH, Wijnen JT, Vasen HFA, Oosterwijk MH, Meera Khan P. Genetic counseling in hereditary non-polyposis colorectal cancer. Oncology, 10, 71-76, 1996.

Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling J, Breuning MH, Deltas CC, Peters DJM, Somlo S. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science, 272, 1339-1342, 1996.

Oosterwijk JC, Jansen JC, Schothorst EM van, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, van der Mey AGL. First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas). J Med Genet, 33, 379-383, 1996.

Odermatt A, Taschner PEM, Khanna VK, Busch HFM, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nature Genet, 14, 191-192, 1996.

Ophoff RA, Terwindt GM, Vergouwe M, van Eijk R, Mohrenweiser HW, Litt M, Hofker MH, Haan J, Ferrari MD, Frants RR. A 3-Mb region for the Familial Hemiplegic Migraine locus on 19p13.1-p13.2, exclusion of PRKCSH as a candidate gene. Eur J Hum Genet, 4, 321-328.

Ophoff RA, Terwindt GM, Vergouwe M, van Eijk R, Oefner PJ, Hoffman SMG, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJB, Hofker MH, Ferrari MD, Frants RR. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell, 87, 543-552, 1996.

Passarino G, Semino O, Bernini LF, Santachiara-Benerecetti AS. Precaucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. Am J Hum Genet, 59, 927-934, 1996.

Passarino G, Semino O, Modiano G, Bernini LF, Santachiara-Benerecetti AS. mtDNA provides the first known marker distinguishing proto -Indians from the other Caucasoids, it probably predates the diversification between Indians and Orientals. Ann Hum Biol, 23, 121-126, 1996.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby KMD, Zatz M. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazalian families. J Med Genet, 33, 97-102, 1996.

Peelen T, Cornelis RS, van Vliet M, Petrij-Bosch A, Cleton-Jansen AM, Meijers-Heijboer EJ, Klijn JGM, Vasen HFA, Cornelisse CJ, Devilee P. The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2. Eur J Hum Genet, 4, 225-230, 1996.

Peerapittayamongkol C, Bernini LF, Wilairat P. Presence of aCS-globin on membrane of red cells containing hemoglobin constant spring (CS). J Sci Soc Thailand, 22, 117-120, 1996.

Peters DJM, Spruit EJ, Klingel R, Prins F, Baelde HJJ, Giordano PC, Bernini LF, de Heer E, Breuning MH, Bruijn JA. (). Adult, fetal and polycystic kidney expression of polycystin, the Polycystic Kidney Disease 1 gene product. Lab Invest, 75, 221-230, 1996.

Phelan CM, Rebbeck TR, Weber BL, Devilee P, Ruttledge MH, Lynch HT, Lenoir GM, Stratton MR, Easton DF, Ponder BAJ, Cannon-Albright L, Larsson C, Goldgar DE, Narod SA. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet, 12, 309-311, 1996.

Pirson Y, Lannoy N, Peters DJM, Geubel A, Gigot J-F, Breuning MH, Verellen-Dumoulin C. Isolated polycystic liver disease as a distinct genetic disease, unlinked to PKD1 and PKD2. Hepatology, 23, 249-252, 1996.

Raap AK, Florijn RJ, Blonde LAJ, Wiegant J, Vaandrager JW, Vrolijk H, den Dunnen JT, Tanke HJ, van Ommen GJB. Fiber-FISH as a DNA mapping tool. Methods, 9, 67-73, 1996.

Reijden BA van der, Hagemeijer A, Breuning MH. Novel CBFB-MYH11 fusion transcripts or RT-PCR artifacts? Blood, 87, 2605-2606, 1996.

Reijden BA van der, Martinet D, Dauwerse HG, Giles RH, Wessels JW, Beverstock GC, Smit B, Jotterand Bellomo M, Muhlematter D, Lafage-Pochitaloff M, Reiffers J, Bilhou-Nabera C, van Ommen GJB, Hagemeijer A, Breuning MH. Simple method for detection of MYH11DNA rearrangements in patients with inv(16)(p13q22) and acute myeloid leukemia. Leukemia, 10, 1459-1462, 1996.

Reijden BA van der, van Ommen GJB, Hagemeijer A, Breuning MH. Acute myelogenous leukemia, a disorder of gene splicing? Leukemia, 10, 204-206, 1996.

Riess O, Kozak Ch, van Ommen GJB. Report of the fourth international workshop on human chromosome 4 mapping 1996. Cytogenet Cell Genet, 74, 57-69, 1996.

Roelfsema JH, Peters DJM, Breuning MH. Detection of translation termintating mutations in the PKD1 gene. Nephrol Dial Transplant, 11, 5-9, 1996.

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FPM, Berger W. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum Mol Genet, 5, 827-833, 1996.

Roewer L, Kayser M, Dieltjes P, 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, 5, 1029-1033, 1996.

Roest PAM, Bout M, van der Tuijn AC, Ginjaar HB, Bakker E, Hogervorst FBL, van Ommen GJB, den Dunnen JT. Splicing mutations in DMD/BMD detected by RT-PCR/PTT, detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. J Med Genet, 33, 935-939, 1996.

Roest PAM, van der Tuijn AC, Ginjaar HB, Hoeben RC, Hogervorst FBL, Bakker E, den Dunnen JT, van Ommen GJB. Application of in vitro myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins. Neuromuscul Disord, 6, 195-202, 1996.

Rooij KE de, Dorsman JC, Smoor MA, den Dunnen JT, van Ommen GJB. Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescenceand biochemical subcellular fractionation. Hum Mol Genet, 5, 1093-1099, 1996.

Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Craufurd D, Curtis A, Curtis D, Davidson M, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Jackson A, Kaplan JC, Losekoot M, MacMillan JC, Morrison P, Trottier Y, Novelletto A, Simpson SA, Theilmann J, Whittaker JL, Folstein SE, Ross CA, Hayden MR. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington Disease (HD) gene reveals cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet, 59, 16-22, 1996.

Schothorst EM van, Jansen JC, Bardoel AFJ, van Der Mey AGL, James MJ, Sobol H, Weissenbach J, van Ommen GJB, Cornelisse CJ, Devilee P. Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes. Eur J Hum Genet, 4, 267-273, 1996.

Semina E, Datson NA, Leysens N, Zabel BU, Carey JC, Bell G, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen GJB, Murray JC. Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet, 59, 1288-1296, 1996.

Semina EV, Reiter R, Leysens NJ, Lee W, Alward M, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet, 14, 392-399, 1996.

Shows TB, Alders M, Bennett S, Burbee D, Cartwright P, Chandrasekharappa S, Cooper P, Courseaux A, Davies C, Devignes M-D, Devilee P, Elliott R, Evans G, Fantes J, Garner H, Gaudray P, Gerhard D, Gessler M, Higgins M, Hummerich H, James M, Lagercrantz J, Litt M, Little P, Mannens M, Munroe D, Nowak N, O'Brien S, Parker N, Perlin M, Reid L, Richard C, Sawicki M, Swallow D, Thakker R, Heyningen V van, Schothorst E van, Vorechovsky I, Wadelius C, Weber B, Zabel B. Report of the Fifth International Workshop on Human Chromosome 11 Mapping. Cytogenet Cell Genet, 74, 1-56, 1996.

Steege G van der, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJB, Brahe C, Buys CHCM. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy (SMA) locus on chromosome 5. Am J Hum Genet, 59, 834-838, 1996.

Sijbrands EJG, Westendorp RGJ, Hoffer MJV, Frants RR, Meinders AE, Souverijn JHM, Gevers Leuven JA, van der Laarse A, Havekes LM, Smelt AHM. Effect of apolipoptotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients. Arterioscler Thromb Vasc Biol, 126, 197-205, 1996.

Tanke HJ, Oosterwijk JC, Mesker WE, Ouwerkerk-van Velzen MCM, Knepflé CFHM, Wiesmeyer CC, van Ommen GJB, Kanhai HHH, Vrolijk H. Detection of 'rare event' fetal erythroblasts in maternal blood using automated microscopy. Early Hum Dev, 47, S89-S93, 1996.

Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD. Familial hemiplegic migraine, a clinical comparison of families linked and nlinked to chromosome 19. Cephalagia, 16, 153-155, 1996.

Tupler R, Berardinelli A, Barbierato L, Frants RR, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet, 33, 366-370, 1996.

Vaandrager JW, Schuuring E, Zwikstra E, De Boer C, Kleiverda KK, Van Krieken JHJM, Kluin-Nelemans HC, van Ommen GJB, Raap AK, Kluin PM. Direct visualization of dispersed 11q13 chromosomal translocations in mantle cell lymphoma by multi-color DNA Fiber Fluorescence In Situ Hybridization. Blood, 88, 1177-1182, 1996.

Vasen HFA, van der Luijt RB, Slors JFM, Buskens E, de Ruiter P, Baeten CGM, Schouten WR, Oostvogel HJM, Kuijpers JHC, Tops CMJ, Meera Khan P. Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis. Lancet, 348, 433-435, 1996.

Vasen HFA, Snaders EACM, Taal BG, Nagennast FM, Griffioen G, Menko FH, Kleibeuker JH, Houwing-Duistermaat JJ, Meera Khan P. The risk of brain tumours in hereditary non-polyposis cancer (HNPCC). Int J Cancer, 65, 422-425, 1996.

Vasen HFA, Wijnen JTh, Menko FH, Kleibeuker JH, Taal BG, Griffioen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard ML, Mohr J, Fodde R, Meera Khan P. Cancer risk in families with hereditary non-polyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology, 110, 1020-1027, 1996.

Veldhuisen B, Breuning MH, Wesby-van Swaay E, Boersma J, Peters DJM. Analysis of a large family with the second type of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant, 11, 13-17, 1996.

Visser M, Bras J, Sijmons C, Devilee P, Wijnaendts LCD, van der Linden JC, Voute PA, Baas F. Microsatellite instability in childhood rhabdomyosarcoma is locus specific and correlates with fractional allelic loss. Proc Natl Acad Sci 93, 9172-9176, 1996.

Vlijmen BJM van, van ‘t Hof HB, Mol MJTM, van der Boom H, van der Zee A, Frants RR, Hofker MH, Havekes LM. Modulation of very low density lipoprotein production and clearance contributes to age- and gender-dependent hyperlipoproteinemia in apolipoprotein E3-Leiden transgenic mice. J Clin Invest, 97, 1184-1192, 1996.

Vlijmen BJM van, Willems van Dijk K, van ‘t Hof HB, van Gorp PJJ, van der Boom H, Breuer ML, Hofker MH, Havekes LM. In the absence of endogenous mouse apolipoprotein E, apolipoprotein E*2(Arg158®Cys) transgenic mice develop more severe hyperlipoproteinemia than apolipoprotein E*3-Leiden transgenic mice. J Biol Chem, 271, 30595-30602, 1996.

Vosse E van de, Bergen AAB, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker E, Weissenbach J, Coffey AJ, van Ommen GJB, den Dunnen JT. A Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15, refined localization of RS. Eur J Hum Genet, 4, 101-104, 1996.

Vries DD de, Went LM, Bruyn GW, Scholte HR, Hofstra RMW, Bolhuis PA, van Oost BA. Genetic and biochemical impairment of mitochondrial complex I activity in a family with leber hereditary optic neurophathy and hereditary spastic dystonia. Am J Hum Genet, 58, 703-711, 1996.

Vrolijk H, Florijn RJ, van de Rijke FM, van Ommen GJB, den Dunnen JT, Raap AK, Tanke HJ. Microscopy and image analysis of fibre-FISH. Bioimaging, 4, 84-92, 1996.

Waard-Siebinga I de, Blom R-JD, Griffioen M, Schrier PI, Hoogendoorn E, Beverstock G, Danen EHJ, Jager MJ. Establishment and characterization of an uveal melanoma cell line. Int J Cancer, 62, 155-161, 1996.

Weber BHF, Brohm M, Stec I, Backe J, Caffier H. A somatic truncating mutation in BCRA2 in a sporadic breast tumor. Am J Hum Genet, 4, 962-964, 1996.

Winther MPJ, Weers PMM, Bogerd J, van der Horst DJ. Apolipophorin III levels in Locusta migratoria, development regulation of gene expression and hemolymph protein concentration. J Insect Physiol, 42, 1047-1052, 1996.

Wijnen JTh, Meera Khan P, Vasen HFA, Menko FH, van der Klift HM, van den Broek MH, van Leeuwen-Cornelisse ISJ, Nagengast FM, Meijers-Heijboer EJ, Lindhout D, Griffioen G, Cats A, Kleibeuker JH, Varesco L, Bertario L, Bisgaard ML, Mohr J, Kolodner R, Fodde R. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. Am J Hum Genet, 58, 300-307, 1996.

Yang K, Edelmann W, Fan K, Lau K, Kolli VR, Fodde R, Meera Khan P, Kucherlapati R, Lipkin M. A mouse model for familial adenomatous polyposis. J Exp Zool, 276, 209-218, 1996.

Publicaties in andere tijdschriften
Bergman W, Gruis NA. Erfelijke huidkanker, FAMMM-syndroom. Tijdschr Kanker, 5, 46-47, 1996.

Bohlega S, McLean D, Zuheir Al Kawi M, Roos RAC, Losekoot M, Bakker E. Huntington's disease, report on four Saudi families. Saudi Medical Journal, 17, 456-460, 1996.

Devilee P. Verdere karakterisering BRCA1-gen opent wegen voor nieuwe therapie. Tijdschr Kanker, 20, 34-36, 1996.

Andere academische publicaties
Breuning MH, Peters DJM. Genetic heterogeneity of autosomal dominant polycystic kidney disease. In: Watson ML, Torres VE (eds). Polycystic kidney disease, pp. 391-403, 1995. ISBN 0-19-262578-0

Dunnen JT den, Roest PAM, van der Luijt RB, Hogervorst FBL. The protein truncation test (PTT) for rapid detection of translation terminating mutations. In: Pfeifer GP (ed). Technologies for detection of DNA damage and mutations, pp. 323-341, 1996. ISBN 0-306-45237-5

Ferrari MD, Haan J, Terwindt GW, Ophoff RA, Frants RR. Migraine en chromosome 19. In: Clifford Rose F. Towards migraine 2000, pp. 25-34, 1995. ISBN 0-444-82494-4

Fodde R, Losekoot M. Mutation analysis by Denaturing Gradient Gel Electrophoresis (DGGE). In: Pfeifer M (ed). Technologies for detection of DNA damage and mutations, 253-265, 1996. ISBN 0-306-45237-5

Fodde R, Smits R, Breukel C, Hofland N, Edelmann W, Kucherlapati R, Meera Khan P. Genotype-phenotype correlations in intestinal carcinogenesis, the lessons from the mouse models. In: Scott R, Muller HJ (eds). Hereditary Cancer, pp. 35-45, 1996. ISBN 3-8055-6329-9

Luijt RB van der, Hogervorst FBL, den Dunnen JT, Meera Khan P, van Ommen GJB. In: Landegren U (ed). Laboratory protocols for Mutation Detection, Protein truncation test, pp. 140-151, 1996. ISBN 0-19-857795-8

Luijt RB van der, Meera Khan P. Protein truncation test for pre-symptomatic diagnosis of familial adenomatous polyposis. In: Adolph KW (ed). Microbial gene techniques. Methods in Molecular Genetics 6, pp. 97-112, 1996. ISBN 01-20443-082

Roelfsema JH, Breuning MH, The European Polycystic Kidney Disease Consortium. The long walk toward the PKD1 gene. In: Grunfeld JP (ed). Advances in Nephrology, pp. 131-145, 1996. ISBN 08-15135-947

Roewer L, Kayser M, Nagy M, Knijff P de. Male identification using Y-chromosomal STR polymorphisms. In: Carracedo A, Brinkmann B, Bar W (eds). Advances in forensic haemogenetics 6, pp. 124-126, 1996. ISBN 3-540604-928

Vasen HFA, Meera Khan P. Hereditary non-polyposis colorectal cancer, phenotype/genotype correlation and screening protocols. In: Baba S. (ed). A new strategy for treatment of hereditary colorectal cancer, pp. 36-46, 1996. ISBN 4-89370-129-0

Gerefereerde conferenties
Frants RR, Havekes LM. Moleculair genetische diagnostiek. In: Frants RR (ed). Hyperlipoproteinemie en atherosclerose, pp. 25-34, 1996. ISBN 90-6767-315-3

Gommers JH, van Ommen GJB. Gentherapie voor Duchenne spierdystrofie. In: Padberg GWAM, de Visser M, van Ommen GJB (eds). Vallen en opstaan, behandeling van neuromusculaire ziekten, pp. 43-50, 1996. ISBN 90-6767-318-8

Klijn JGM, Verhoog LC, Brekelmans C, Seynaeve C, Devilee P, Henzen SC, Meijers-Heijboer HJ. Carcinogenesis endocrine risk factors and natural history of breast cancer. In: Maltoni C, Soffritti M, Davis W (eds). The scientific bases of cancer chemoprevention, proceedings of the International Forum on the scientific bases of cancer chemoprevention, pp. 175-184, 1996. ISBN 0-444-82453-7

Willems van Dijk K, Hofker MH, Havekes LM, Frants RR. Hyperlipoproteinemie en atherosclerose in transgene muizen, preventie middels somatische gentherapie. In: Frants RR (ed). Hyperlipoproteinemie en atherosclerose, pp. 101-112, 1996. ISBN 90-6767-315-3

Proefschriften
Boer CJ de. Cyclin D1 in beta-cell neoplasia. Promotoren: GJB van Ommen, PM Kluin. 1996.

Deutekom JCT van. Towards the molecular mechanism of facioscapulohumeral muscular dystrophy. Promotoren: RR Frants, GWAM Padberg. 1996.

Kielman MF. The alpha-globin domain of man and mouse. Integration of erythroid regulatroy elements with a conserved cluster of upstream flanking genes. Promotor: LF Bernini. 1996.

Luijt RB van der. Molecular basis of phenotypic variability in familial adenomatous polyposis. Promotor: P Meera Khan. 1996.

Tops CMJ. Presymptomatic DNA-diagnosis of familial adenomatous polyposis. Promotoren: P Meera Khan, CBHW Lamers. 1996.