Publications 1995


Department of Human Genetics

(Anthropogenetica)


Contents



Area 5A.1 :


PhD-thesis

Bruyn RPM. Hereditary spastic parapesis. Clinical, neurophysical and genetic aspects. Universiteit van Amsterdam, afd. Neurologie. Amsterdam, 1995: 1-144. (co-promotor R.R. Frants)

Florijn KW. Studies in autosomal dominant polycystic kidney disease. Leiden, 1995: 1-157. (co-promotor M.H. Breuning) (zie ook 19.4)


Reviews

Breuning MH. Gene defect in polycystic kidney disease. Exp Nephrol 1995; 3: 267-269.


Regular publications

Almeida S de, Almeida E de, Peters DJM, Pinto JR, Tavora I, Lavinha J, Breuning M, Prata MM. Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet 1995; 96: 83-88.

Bakker E, Wijmenga C, Vossen RHAM, Padberg GW, Hewitt JE, Wielen MJR van der, Rasmussen K, Frants RR. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995; 2: 39-44.

Bergen AAB, Born LI van den, Schuurman EJM, Pinckers AJLG, Ommen GJB van, Bleeker-Wagemakers EM, Sandkuijl LA. Multipoint linkage analysis and heterogeneity testing in 15 Dutch X-linked retinitis pigmentosa families. Ophtalmic Genet 1995; 16: 63-70.

Boerman RH, Ophoff RA, Links TP, Eijk R van, Sandkuijl LA, Elbaz A, Vale-Santos JE, Wintzen AR, Deutekom JCT van, Isles DE, Fontaine B, Padberg GW, Frants RR. Mutation in DHP receptor alpha1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis. J Med Genet 1995; 32: 44-47.

Bohlega S, McLean D, Omer S, Al Kawi Z, Roos RAC, Losekoot M, Bakker E. Huntington's disease in Saudi Arabia. J Med Genet 1995; 32: 325-328. (zie ook 25.A.31)

Breuning MH, Peters DJM, Latest news on the major gene for polycystic kidney disease, PKD1. Nephrol Dial Transplant 1995; 4: 1795.

Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 2: 67-72. (zie ook 25.A.31)

Camp G van, Coucke P, Balemans W, Velzen D van, Bilt C van de, Laer L van, Smith RJH, Fukushima K, Padberg GW, Frants RR, Heyning P van de, Smith SD, Huizing EH, Willems PJ. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. Hum Mol Genet 1995; 4: 2159-2163.

Chen ZQ, Hofker MH, Cox DW. Defining the breakpoint of a multigene deletion in the immunoglobin heavy chain gene cluster. Immunogenetics 1995; 41: 69-73.

Constantinou-Deltas C, Papageorgiou E, Boteva K, Christodoulou K, Breuning MH, Peters DJM, Pierides A. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families. Hum Genet 1995; 95: 416-423.

Cruts M, Backhovens H, Wang S-Y, Gassen G van, Theuns J, Jonghe C de, Wehnert A, Voecht J de, Winter G de, Cras P, Bruyland M, Datson NA, Weissenbach J, Dunnen JT den, Martin JJ, Hendriks L, Broeckhoven C van. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet 1995; 4: 2363-2372.

Deutz-Terlouw PP, Losekoot M, Olmer R, Pieneman WC, Vries-van der Weerd S de, Briët E, Bakker E. Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families. J Med Genet 1995; 32: 296-300.

Deutekom JCT van, Hofker MH, Romberg S, Geel M van, Rommens J, Wright TJ, Hewitt JE, Padberg GWAM, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve 1995; 2: 19-26.

Duijn CM van, Havekes LM, Broeckhoven C van, Knijff P de, Hofman A. Apolipoprotein E genotype modifies the association between smoking and Alzheimer's disease. Brit Med J 1995; 310: 627-631.

Duijn CM van, Knijff P de, Wehnert A, Voecht J de, Bronzova JB, Havekes LM, Hofman A, Broeckhoven C van. Reduced survival of patients with early-onset Alzheimer's disease that carry the apolipoprotein E2 allele. Ann Neurol 1995; 37: 605-610.

Dijk MA van, Chang PC, Peters DJM, Breuning MH. Abnormal expression of epidermal growth factor and autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1995; 6: 1679-1681.

Florijn KW, Noteboom WPM, Saasse JLCM van, Chang PC, Breuning MH, Vandenbroucke JP. A century of mortality in five large families with polycystic kidney disease. Am J Kidney Dis 1995; 25: 370-374. (zie ook 19.4 en 6.C)

Ginjaar HB, Viragh S, Markman MWM, Ommen GJB van, Moorman AFM. Dystrophin expression in the developing conduction system of the human heart. Microsc Res Techn 1995; 30: 458-468.

Heikoop JC, Hogervorst FBL, Meershoek EJ, Grootscholten PM, Dunnen JT den, Ommen GJB van. Expression of the human Dp 71 (apo-dystrophin-1) gene from a 760-kb DMD-YAC transferred to mouse cells. Eur J Hum Genet 1995; 3: 168-179.

Hofman IL, Taschner PEM. Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). Am J Med Genet 1995; 57: 165-167.

Humphries SE, Ye S, Talmud P, Bara L, Wilhelmsen L, Tiret L, on behalf of the EARS group (including Knijff P de). European atherosclerosis research study: genotype at the fibrinogen locus (g-455-a -gene) is associated with differences in plasma fibrinogen levels in young men and women from different regions in Europe. Evidence for gender-genotype-environment interaction. Arterioscler Thromb 1995; 15:96-104.

Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Birds S, Canini S, Huijmans JGM, Chadefaux-Vekemans B, Whitfield AE, Kleijer WJ. Prenatal diagnosis of the urea cycle diseases: A survey of the European cases. Am J Hum Genet 1995; 55: 247-250.

Kielman MF, Smits R, Bernini LF. Structure of the mouse 3-Methyladenine DNA glycosylase gene and exact localization upstream of the -globin gene cluster. Mammalian Genome 1995; 6: 499-504.

Klausen IC, Beisiegel U, Menzel H-J, Rosseneu MY, Nicaud V, Faergeman, on behalf of the EARS Group (including Knijff P de). Apo(a) phenotypes and Lp(a) concentrations in offspring of men with and without myocardial infarction. The EARS Study. Arterioscler Thromb Vasc Biol 1995; 15: 1001-1008.

Lerner TJ, d'Arigo KL, Haines JL, Dogett NA, Taschner PEM, Vos N de, Buckler AJ, the Batten Disease Consortium. Isolation of genes from the Batten candidate region using exon amplification. Am J Med Genet 1995; 57: 320-323.

Lerner TJ, Kremmidiotis G, Taschner PEM, Doggett NA, Mitchison HM, Boustany RMN, Anderson JW, D'Arigo KL, Schlumpf K, Buckler AJ, Gusella JF, Haines JL, Lensink IL, Sutherland GR, Callen DF, Vos N de, Ommen GJB van, Breuning MH, Meincke LJ, Liu Z-Y, Goodwin LA, Tesmer JG, O'Rawe AM, Munroe PB, Järvelä IE, Gardiner RM, Mole SE. Isolation of a novel gene underlying Batten Disease, CLN3. Cell 1995; 82: 949-957.

Lombardi P, Sijbrands EJG, Giessen K van der, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995; 36: 860-876.

Maarel SM van der, Scholten IHJM, Maat-Kievit JA, Huber I, Kok YJM de, Wijs I de, Pol TJR van de, Bokhoven H van, Dunnen JT den, Ommen GJB van, Philippe C, Monaco AP, Smeets HJM, Ropers HH, Cremers FPM. Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and non-specific mental retardation. Eur J Hum Genet 1995; 3: 207-218.

Maat MPM de, Knijff P de, Green FR, Thomas AE, Jespersen J, Kluft C. Gender related association between -fibrinogen genotype and plasma fibrinogen levels, and - and -fibrinogen genotype linkage in Greenland Inuit. Arterioscler Thromb Vasc Biol 1995; 15: 856-860.

Marchini D, Manetti AGO, Rosetto M, Bernini LF, Telford JL, Baldari CT, Dallai R. cDNA sequence and expression of the ceratotoxin gene encoding an antibacterial sex-specific peptide from the medfly Ceratitis Capitata (diptera). J Biol Chem 1995; 270: 6199-6204.

May A, Ophoff RA, Terwindt GM, Urbam C, Eijk R van, Haan J, Diener HC, Lindhout D, Frants RR, Sandkuyl LA, Ferrari MD. Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura. Hum Genet 1995; 96: 604-608.

Mitchison HM, O'Rawe AM, Taschner PEM, Sandkuijl LA, Santavuori P, Vos N de, Breuning MH, Mole SE, Gardiner RM, Jarvela IE. Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. Am J Hum Genet 1995; 56: 654-662.

Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K, Vos N de, Gormally E, Phillips HA, Thompson AD, Haines JL, Hart YM, Andermann E, Callen DF, Breuning MH, Gardiner RM, Mole SE. Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S16S383 and exclusion from this region a variant form of Batten disease with granular osmiophilic deposits. Am J Med Genet 1995; 57: 312-315.

Ommen GJB van. A foundation for limb-girdle muscular dystrophy. Nature Med 1995; 1: 412-414.

Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 1995; 2: 81-84. (zie ook 25.A.31)

Padberg GWAM, Brouwer OF, Keizer RJW de, Dijkman G, Wijmenga C, Grote JJ, Frants RR. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve 1995; 2: 73-80.

Petrij F, Giles RH, Dauwerse JG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, Ommen GJB van, Goodman RH, Peters DJM, Breuning MH. Rubinstein-Taybi syndrome is caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348-351.

Ree JH van, Broek WJAA van den, Dahlmans VEH, Wiering B, Frants RR, Havekes LM, Hofker MH. Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice comparable in inbred (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice. Atherosclerosis 1995; 118: 165-167.

Ree JH van, Broek WJJA van den, Zee A van der, Dahlmans VEH, Wieringa B, Frants RR, Havekes LM, Hofker MH. Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects om mRNA expression levels of gene cluster members. Hum Mol Genet 1995; 4: 1403-1409.

Ree JH van, Gijbels MJJ, Broek WJAA van der, Hofker MH, Havekes LM. Atypical xanthoma in apolipoprotein E-deficient mice after cholesterol feeding. Atherosclerosis 1995; 112: 237-243.

Ree JH van, Hofker MH, Broek WJJA van den, Deursen JMA, Boom H van der, Frants RR, Wieringa B, Havekes LM. Increased response to cholesterol feeding in apolipoprotein C1-deficient mice. Biochem J 1995; 305: 905-911.

Rooij KE de, Koning Gans PAM de, Roos RAC, Losekoot M, Ommen GJB van, Dunnen JT den. Somatic expansion of the (CAG)n repeat in Huntington disease brains. Hum Genet 1995; 95: 270-274. (zie ook 25.A.31)

Steege G van der, Cobben JM, Osinga J, Scheffer H, Ommen GJB van, Buys CHCM. A sublocus of the multicopy microsatellite marker CMS1 maps proximal to SMA as shown by recombinant analysis. Hum Genet 1995; 96: 589-591.

Steege G van der, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velona I, Dunnen JT den, Scheffer H, Brahe C, Ommen GJB van, Buys CHCM. A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur J Hum Genet 1995; 3: 87-95.

Taschner PEM, Vos N de, Thompson AD, Callen DF, Doggett NA, Mole SE, Dooley TP, Barth PG, Breuning MH. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am J Hum Genet 1995; 56: 663-668.

Taschner PEM, Vos N de, Post JG, Meijers-Heijboer EJ, Hofman I, Pinckers AJLG, Bleeker-Wagemakers EM, Gardiner RM, Breuning MH. Carrier detection of Batten disease (juvenile neuronal ceroid lipofuscinosis). Am J Med Genet 1995; 57: 333-337.

Taschner PEM, Vos N de, Catsman-Berrevoets CE, Duinen SG van, Lindhout D, Breuning MH. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid lipofuscinosis. Am J Med Genet 1995; 57: 338-343.

Tijssen MAJ, Shiang R. Deutekom JC van, Boerman RH, Wasmuth JJ, Sandkuyl LA, Frants RR, Padberg GW. Molecular genetic reevaluation of the Dutch Hyperekplexia family. Arch Neurol 1995; 52: 578-582.

Wielaard R, Bornebroek M, Ophoff RA, Winter-Warnars HAO, Scheltens Ph, Frants RR. A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13. Clin Neurol and Neurosurg 1995; 97: 307-313.

Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg GW, Frants RR. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995; 56: 99-105.


Book chapters

Duijn CM van, Knijff P de, Cruts M, Wehnert A, Voecht J de, Havekes LM, Hofman A, Broeckhoven C van. The apolipoprotein E gene and the risk of early-onset Alzheimers's disease. In: Iqbal K, Mortimer JA, Winblad B, Wisniewski HM (eds). Research advances in Alzheimer's Disease and related disorders. New York, 1995; 97-101.

Frants RR, Havekes LM. Multifactorial disease: from atherosclerosis to hyperlipoproteinemia. In: Handojo Muljono D, Sudoyo H, Harahap A (eds). Recent advances in medical genetics. Jakarta 1995; 49-57.

Frants RR, Losekoot M, Bernini LF. Thalassemia: molecular absis and diagnosis. In: Handojo Muljono D, Sudoyo H, Harahap A (eds). Recent advances in medical genetics. Jakarta 1995; 4-9.

Frants RR, Wijmenga C, Brouwer OF, Hofker MH, Geel M van, Deutekom JCT van, Padberg GW. Neurogenetics: facioscapulohumeral muscular dystrophy. In: Handojo Muljono D, Sudoyo H, Harahap A (eds). Recent advances in medical genetics. Jakarta 1995; 69-76.

Old J. Altay C. Baiget M. Basak AN, Beksac S, Benge-Lefranc JL, Bernini LF, Cao A, Cochaux P, Goossens M, Gurgay A, Horst C, Maggio A, Lavinha J, Rosatelli C, Travi M. Prenatal diagnosis of hemoglobinopathies. In: Baya C (ed). Advances in medical biology. Amsterdam 1994: (niet eerder vermeld)

Ommen GJB van. Molecular genetics of Duchenne and Becker muscular dystrophies. In: Padberg GWAM (ed). Boerhaave Cursus "Neuromusculaire Genetica". Leiden, 1995; 5-20.

Padberg GWAM, Frants RR. Facioscapulohumerale spierdystrofie. In: Padberg GWAM. (ed). Boerhaave Cursus "Neuromusculaire Genetica". Leiden, 1995; 27-30.

Roelfsema JH, Breuning MH. The European Polycystic Kidney Disease Consortium: La longue marche vers le gene PKD1. In: Flunck-Brentano JL, Bach JF, Kreis H, Grunfeld JP, (eds). Actualites Nephrologiques Jean Hamburger Hopital Necker 1995. Paris, 1995; 155-170.


Published abstracts

Bakker E, Ausems M, Zaremba J, Kowalczyk J, Prkicky D, Kneppers ALJ, Wang H, Keulemans JLM, Smeitink J, Diggelen OP van. Asymptomatic and late onset ornithine transcarbamylase deficiency (OTCD) caused by a A208T mutation. Am J Hum Genet 1995; 57: A235.

Cnossen MH, Est MN van der, Goede-Bolder A de, Breuning MH, Asperen CJ van, Breslau-Siderius EJ, Halley DJJ, Ouweland AMW van den, Niermeijer MF. Deletions spanning the Neurofibromatosis type 1 gene: on the verge of genotype-phenotype correlations in NF1? Am J Hum Genet 1995; 57: A237.

Escamilla MA, McInnes LA, Spesny M, Reus VI, Shimayoshi N, Tyler D, Batki S, Vinogradov S, Meza L, Gallegos A, Molina J, Fournier E, Leon P, Service S, Smith L, Silva S, Sandkuijl LA, Freimer NB. Linkage disequilibrium analysis of bipolar disorder (BP) in the Costa Rican population. Am J Hum Genet 1995; 57: A27.

Geraedts JPM, Bijlsma JB, Hennekam FAM, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, France HF de, Die-Smulders CEM de, Duran M, Gennip AH van, Mens JT van, Mantel G, Verhage RE, Zwamborn-Hanssen AMN. Uniform genetic diagnosis code. Am J Hum Genet 1995; 57: A90.

Harteveld CL, Losekoot M, Heister JGAM, Giordano PC, Streng H, Spaninks M, Bernini LF. Molecular characterization of -thalassemias in the Netherlands. Am J Hum Genet 1995; 57: A164.

Hayashi T, Mochinzuki T, Wu G, Reynolds D, Cai Y, Viribay M, Veldhuisen B, San Millan JL, Deltas C, Peters D, Somlo S. A cosmid and P1 clone based map of the region for the second autosomal dominant polycystic kidney disease gene (PKD2). J Am Soc Nephrol 1995; 6: 696.

Leeflang EP, Fan F, Losekoot M, Ommen GJB van, Arnheim N. Single sperm analysis of the transition from high normal to diseased triplet repeat length at the Huntington's disease. Am J Hum Genet 1995; 57: A29.

Lerner JT, Kremmidiotis G, Boustany R-MN, Anderson JW, D'Arigo KL, Buckler AJ, Gusella JF, Taschner PEM, Vos N de, Meincke LJ, Mitchison HM, O'Rawe A, Munroe PB, Callen IE, Diggett NA, Breuning MH, Mole SE, Haines JL. Batten disease I. Isolation of a candidate gene for CLN3. Am J Hum Genet 1995; 57: A7.

McInnes LA, Escamilla MA, Reus VI, Spesny M, Leon P, Rojas E, Tyler D, Baharloo S, Blankenship K, Batki S, Vinogradov S, MEza L, Gallegos A, Fournier E, Service S, Smith L, Silva S, Sandkuijl LA, Freimer NB. A complete genome search for genetic loci predisposing to bipolar disorder (BP) in two Costa Rican pedigrees. Am J Hum Genet 1995; 57: A197.

Mitchison HM, Munroe PB, O'Rawe AM, Taschner PEM, Kremmidiotis G, Lensink I, Meincke LJ, D'Arigo KLD, Vos N de, Gardiner RM, Callen DF, Breuning MH, Lerner TJ, Doggett NA, Mole SE. Batten disease III. Genomic structure of a candidate gene for CLN3. Am J Hum Genet 1995; 57: A147.

Mochizuki T. Wu G, Hayashi T, Reynolds D, Cai Y, Viribay M, Veldhuisen B, San Millan JL, Deltas C, Peters D, Somlo S. Identification and characterization of candidates for the second gene for autosomal dominant polycystic kidney disease (PKD2). J Am Soc Nephrol 1995; 6: 703.

Mole SE, Järvelä IE, Mitchison HM, O'Rawe A, Munroe PB, Taschner TEM, Vos N de, Lerner T, D'Arigo K, Callen DF, Thompson AD, Knight M, Marrone BL, Mundt MO, Meincke L, Breuning MH, Gardiner RM, Doggett NA. YAC and cosmid contigs spanning the Batten disease (CLN3) regon at 16p12.1-11.2. In: Proceedings Cold Spring Harbor "Genome mapping and sequencing", May 10-May 14, 1995: 216.

Ophoff RA, Terwindt GM, Eijk R van, Vergouwe M, Hofker MH, Haan J, Hoffman S, Mohrenweiser H, Ferrari MD, Frants RR. Gene for familial hemiplegic migraine on chromosome 19p13. Am J Hum Genet 1995; 57: A222.

Padberg GWAM, Deutekom JCT van, Bakker E, Frants RR. Genetic aspects of Facioscapulohumeral Muscular Dystrophy. Am J Hum Genet 1995; 57: A99.

Padberg GWAM, Deutekom JCT van, Bakker E, Frants RR. Genetic aspects of facioscapulohumeral muscular dystrophy. Am J Hum Genet 1995; 57: A99.

Peters DJM, Klingel R, Bernini L, Heer E de, Breuning MH, Bruijn JA. Immunohistochemical analysis of renal tissue with polyclonal antibosied agianst peptides encoded by the predicted ADPKD1 protein. J Am Soc Nephrol 1995; 6: 706.

Petrij F, Giles RH, Dauwerse JG, Ommen GJB van, Goodman RH, Peters DJM, Breuning MH. Single gene for Rubinstein-Taybi syndrome on chromosome 16 identified: the transcriptional co-activator CBP. Am J Hum Genet 1995; 57: A3.

Roest PAM, Tuijn AC van der, Hogervorst FBL, Dunnen JT den, Ommen GJB van. Forced myogenesis enables detection and study of muscle proteins in non-muscle cells: application in DMD carrier detection and other diagnostic issues. Med Genetik 1995; 2: 217.

Roest PAM, Tuijn A van der, Hogervorst FBL, Ommen GJB van, Dunnen JT den. Detectie en onderzoek van spierspecifieke eiwitten in niet-spiercellen mogelijk na MyoD-transfectie; toepassingen bij detectie van Duchenne-spierdystrofie-draagsterschap. Ned Tijdschr Geneeskd 1995; 139: 2335.

Rooij KE de, Dorsman JC, Fodde R, Smoor MA, Hoogeveen AT, Dunnen JT den, Ommen GJB van. Subcellular localization and functional analysis of the Huntington disease gene product. Med Genetik 1995; 2: 122.

Soest S van, Born LI van den, Gal A, Farrar GJ, Bleeker-Wagemakers LM, Westerveld A, Humphries P, Sandkuijl LA, Bergen AAB. Lokalisatie van een gen voor autosomaal recessieve retinitis pigmentosa in een genetisch heterogeen isolaat. Ned Tijdschr Geneeskd 1995; 139: 2333.

Taschner PEM, Mitchison HM, Kremmidiotis G, O'Rawe A, Munroe PB, Vos N de, Boustany RM, Lensink I, Meincke LJ, Anderson JW, D'Arigo KL, Järvelä IE, Buckler AJ, Gusella JF, Haines JL, Gardiner RM, Sutherland GR, Doggett NA, Callen DF, Mole SE, Lerner TJ, Breuning MH. Batten disease II. Genomic alterations in CLN3. Am J Hum Genet 1995; 57: A230.

Taschner PEM, Vos N de, Barth PG, Breuning MH. The Batten Disease Consortium. Microdeletion in a Moroccan patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) may affect the CLN3 gene. In: Proceedings Cold Spring Harbor "Genome mapping and sequencing", May 10-May 14, 1995: 266.

Zwamborn-Hanssen MAMN, Bijlsma JB, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, France HF de, Die-Smulders CEM de, Duran M, Gennip AH van, Mens JT van, Hennekam FAM, Mantel G, Verhage RE, Geraedts JPM. Uniform clinical genetic code registration: experience with a national system. Med Genetik 1995; 2: 208.


Miscellaneous

Kielman M, Smits R, Hof I, Gikas K, Bernini LF. Karakterisering van de humane en muize--globineloci; implicaties voor genregulatie door middel van "locus control regions". Ned Tijdschr Geneeskd 1995; 138: 2685.

Losekoot M, Ommen GJB van. Wetenschappelijk onderzoek naar Huntington-gen: Waar zijn we mee bezig en waar gaat het naar toe? Kontaktblad Ver. van Huntington 1995; 2: 30-35.

Vandenbussche FPHA, Oepkes D, Beverstock GC, Kanhai HHH. Amniocentese in het eerste trimester: een redelijk alternatief? Ned Tijdschr Geneeskd 1995; 139: 3. (zie ook 24.13)



Area 5A.2 : Cancer Genetics


PhD-thesis

Cornelis RS. Breast Cancer Genetics. Leiden, 1995: 1-154. (zie ook 9.13)


Regular publications

Berns EMJJ, Klijn JGM, Smid M, Staveren IL van, Gruis NA, Foekens JA. Infrequent CDKN2 (MTS1/p16) gene alterations in human primary breast cancer. Brit J Cancer 1995; 72: 964-967.

Børresen A-L, Andersen TI, Eyfjörd J, Cornelis RS, Thorlacius S, Borg A, Johansson U, Theillet C, Scherneck S, Hartman S, Cornelisse CJ, Hovig E, Devilee P. TP53 mutations and breast cancer prognosis: particularly poor survival rates for cases with mutations in the zinc-binding domains. Gene Chromosome Canc 1995; 14: 71-75. (zie ook 9.13)

Bovée JVMG, Devilee P, Cornelisse CJ, Schuuring E, Hogendoorn PCW. Identification of an EWS-pseudogene using translocation detection by RT-PCR in Ewing's sarcoma. Biochem Bioph Res Co 1995; 213: 1051-1060. (zie ook 9.13)

Cleton-Jansen AM, Moerland HW, Callen DF, Doggett NA, Devilee P, Cornelisse CJ. Mapping of the breast basic conserved gene (D16S444E) to human chromosome band 16q24.3. Cytogenet Cell Genet 1995; 68: 49-51. (zie ook 9.13)

Cleton-Jansen AM, Collins N, Lakhani SR, Weissenbach J, Devilee P, Cornelisse CJ, Stratton MR. Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Brit J Cancer 1995; 72: 1241-1244. (zie ook 9.13)

Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U, Lindblom A, Lalle P, Longy M, Olah E, Scherneck S, Bignon YJ, Sobol H, Chang-Claude J, Larsson C, Spurr N, Borg A, Barkardottir RB, Narod S, Devilee P. High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families. Gene Chromosome Canc 1995; 13: 203-210.

Cornelis RS, Vasen HFA, Meijers-Heijboer H, Ford D, Vliet M van, Tilborg AAG van,

Cleton FJ, Klijn JGM, Menko FH, Meera Khan P, Cornelisse CJ, Devilee P. Age at diagnosis as an indicator of eligibility for BRCA1 DNA-testing in familial breast cancer. Hum Genet 1995; 95: 539-544. (zie ook 9.13 en 17.1)

Easton DF, Ford D, Bishop DT, The Breast Cancer Linkage Consortium (o.a. Devilee P). Breast and ovarian cancer incidence in BRCA1 mutation carriers. Am J Hum Genet 1995; 56: 265-271.

Eijdems EWHM, Haas M de, Coco-Martin JM, Ottenheim CPE, Zaman GJR, Dauwerse JG, Breuning MH, Twentyman PR, Borst P, Baas F. Mechanisms of MRP over-expression in four human lung-cancer cell lines and analysis of the MRP amplicon. Int J Cancer 1995; 60: 676-684.

Friend S, Børresen AL, Brody L, Casey G, Devilee P, Gayther S, Goldgar D, Murphy P, Weber BL, Wiseman R. Breast cancer information on the web. Nature Genet 1995; 11: 237-238. (Letter to the Editor).

Gruis NA, Velden PA van der, Sandkuijl LA, Prins DEM, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nature Genet 1995; 10: 351-353. (zie ook 30.4)

Gruis NA, Weaver-Feldhaus J, Liu Q, Frye C, Eeles R, Orlow I, Lacombe L, Ponce-Castaneda V, Lianes P, Latres, E, Skolnick M, Cordon-Cardo C, Kamb A. The MTS1 and TP53 genes may involve separate pathways of tumorigenesis. Am J Pathol 1995; 5: 1199-1206.

Gruis NA, Sandkuijl LA, Velden PA van der, Bergman W, Frants RR. CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Melanoma Res 1995; 5: 169-171. (zie ook 30.4)

Hogervorst FBL, Cornelis RS, Bout M, Vliet M van, Oosterwijk JC, Olmer R, Bakker E, Klijn JGM, Vasen HFA, Meijers-Heijboer H, Menko FH, Cornelisse CJ, Dunnen JT den, Devilee P, Ommen GJB van. Rapid detection of BRCA1 mutations by the Protein Truncation Test. Nature Genet 1995; 10: 208-212. (zie ook 9.13 en 17.1)

Limpens J, Stad R, Vos CBJ, Vlaam C de, Jong D de, Ommen GJB van, Schuuring E, Kluin PM. Lymphoma associated translocation t(14;18) in blood B-cells of normal individuals. Blood 1995; 85: 2528-2536. (zie ook 9.13)

Liu Q, Neuhausen S, McClure M, Frye C, Weaver-Feldhaus J, Gruis NA, Eddington K, Allalunis-Turner MJ, Skolnick MH, Fujimura FK, Kamb A. CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines. Oncogene 1995; 10: 1061-1067.

Luijt RB van der, Tops CMJ, Meera Khan P, Klift HM van der, Breukel C, Leeuwen-Cornelisse ISJ van, Dauwerse JG, Beverstock GC, Noort E van, Snel P, Slors FJM, Vasen HFA, Fodde R. Molecular, cytogenetic and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree. Gene Chromosome Canc 1995; 13: 192-202. (zie ook 17.1)

Luijt RB van der, Vasen HFA, Tops CMJ, Breukel C, Fodde R, Meera Khan P. APC mutation in the alternatively spliced region of exon 9 associated with late onset familialadenomatous polyposis. Hum Genet 1995; 96: 705-710. (zie ook 17.1)

Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BAJ, Weber BL, Garber JE, Birch JM, Cornelis RS, Kelsell DP, Spurr NK, Smyth E, Haites N, Sobol H, Bignon Y-J, Chang-Claude J, Hamann U, Lindblom A, Borg A, Piver MS, Gallion HH, Struewing JP, Whittemore A, Tonin P, Goldgar DE, Easton DF. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 1995; 56: 254-264.

Narod S, Ford D, Devilee P, Barkardottir RB, Eyfjord J, Lenoir G, Serova O, Easton D, Goldgar D. Genetic heterogeneity of breast-ovarian cancer revisited. Am J Hum Genet 1995; 57: 957-958. (Letter to the editor)

Reijden BA van der, Lombardo M, Dauwerse HG, Giles RH, Muhlematter D, Jotterand Bellomo M, Wessels HW, Beverstock GC, Ommen GJB van, Hagemeijer A, Breuning MH. RT-PCR diagnosis of patients with acute nonlymphomatic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts. Blood 1995; 86: 277-282.

Raghoebier S, Broos L, Kramer MHH, Krieken JHJM van, Kluin-Nelemans JC, Ommen GJB van, Kluin PM. Histological conversion of follicular lymphoma with structural alterations of t(14;18) and immunoglobulin genes. Leukemia 1995; 9: 1748-1755. (zie ook 9.13)

Scott RJ, Luijt RB van der, Spycher M, Mary J-L, Muller A, Hoppeler Th, Haner M, Muller Hj, Martinoli S, Brazzola PL, Meera Khan P. Novel APC germline mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 1995; 36: 731-736.

Vasen HFA, Nagengast FM, Meera Khan P. Interval Cancer in Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome). Lancet 1995; 345: 1183-1184. (zie ook 17.1)

Vasen HFA, Taal BG, Nagengast FM, Griffioen G, Menko FH, Kleibeuker JH, Offerhaus GJA, Meera Khan P. Hereditary nonpolyposis colorectal cancer. Results of long term surveillance in 50 families. Eur J Cancer 1995; 31: 1145-1148. (zie ook 17.1)

Wijnen JTh, Vasen HFA, Meera Khan P, Menko FH, Klift HM van der, Leeuwen C van, Broek M van den, Leeuwen-Cornelisse ISJ van, Nagengast F, Meijers-Heijboer H, Lindhout D, Griffioen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard ML, Mohr J, Fodde R. Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis. Am J Hum Genet 1995; 56: 1060-1066. (zie ook 17.1)

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumb C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice K, Biggs P, Smith A, Connor F, Arason A, Gudmundsson J, Kelsell D, Ford D, Tonin P, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J, Devilee P, Cornelisse C, Lynch H, Narod S, Lenoir G, Easton DF, Egilsson V, Barkadottir R, Bentley DR, Futreal PA, Ashworth A, Stratton MR. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995; 378: 789-791. (zie ook 9.13)


Book chapters

Devilee P. Familiaire tumoren. In: Fleuren GJ, Krieken JHJH van (eds). Boerhaave Cursus "Toepassingen van moleculair-biologische technieken in de pathologie". Leiden, 1995; 99-110.

Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest Hungary, 1995; 1-. ISBN 87-984844-1-9.

R Fodde. Of mice, men and cancer: development of mouse models for colorectal carcinogenesis. In: Franses PH, Klein A de, Kuppevelt J van, Mamahdou V, Zee J van der (eds). Van Frictie tot Wetenschap. Jaarboek 1994-1995 Vereniging van Akademie-onderzoekers. Amsterdam, 1995; 97-105. ISBN 90-6984-137-1.


Published abstracts

Cornelis RS, Willemze A, Vliet M van, Vasen HFA, Ford D, Menko FH, Meijers-Heijboer H, Klijn JGM, Cornelisse CJ, Devilee P. Confirmation of BRCA2 on chromosome 13q12-q13 in 14 Dutch breast cancer families. Med Genetik 1995; 2: 239. (zie ook 9.13 en 17.1)

Devilee P, Cornelis RS, Vliet M van, Willemze A, Peelen T, Vasen HFA, Menko FH, Meijers-Heijboer H, Klijn JGM, Cornelisse CJ. Confirmation of BRCA2 on chromosome 13q12-q13 in 11 Dutch breast cancer families. Am J Hum Genet 1995; 57: A1092. (zie ook 9.13 en 17.1)

Fodde R, Smits R, Breukel C, Edelmann W, Yang K, Lipkin M, Kucherlapati R, Meera Khan P. Mouse models for colorectal carcinogenesis. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 16.

Frants RR, Velden PA van der, Sandkuijl LA, Prins DEM, Bergman W, Gruis NA. Viability of homozygotes for a germline deletion of 19 bp in the coding region of the CDKN2/p16 gene in Dutch melanoma families. Am J Hum Genet 1995; 57: A64. (zie ook 30.4)

Giles RH, Petrij F, Dauwerse JG, Reijden BA van der, Beverstock GC, Hagemeijer A, Breuning MH. The translocation t(8;16) in ANLL M4/M5 disrupts the CBP gene on chromosome 16. Blood 1995; 86: 35a.

Gruis N, Velden P van der, Sandkuijl L, Prins D, Bergman W, Frants RR. CDKN2 (p16) kiembaan mutatie in Nederlandse 'familial atypical multiple mole-melanoma' (FAMM) syndroom families. Ned Tijschr Geneeskd 1995; 139: 2335. (zie ook 30.4)

Hogervorst FBL, Cornelis RS, Bout M, Vliet M. van, Bakker E, Cornelisse CJ, Ommen GJB van, Dunnen JT den, Devilee P. Rapid detection of BRCA1 mutations using the protein truncation test (PTT). Med Genetik 1995; 2: 136. (zie ook 9.13)

Luijt R van der, Meera Khan P, Almeida R, Alonso A, Amikam D, Battista P, Bezrukov VF, Boavida G, Butler R, Caspari R, Castedo S, Davies R, Ellis A, Farrington S, Ferrara G, Frayling I, Friedl W, Gismondi V, Karner-Hanusch J, Kartheuser A, Lindblom A, MacDonald F, Mandl M, McCarthy T, Monteiro C, Moslein G, Mulcahy T, Olschwang S, O'Sulllivan M, Payne S, Presciuttini S, Radice P, Bertario L, Regateiro F, Rowan A, Scott RJ, Shaw J, Sud R, Veiga I, Verellen-Dumoulin C, Wallis Y, Hulten M, Wells D, Walon C, West S, Whittaker J. Session on the relative merits of screening techniques used in DNA diagnostics of Familial Adenomatous Polyposis. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 28-33.

Luijt R van der, Meera Khan P, Tops CMJ, Vasen HFA, Fodde R. Mutation analysis of the APC gene by Protein Truncation Test. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 34. (zie ook 17.1)

Menko FH, Wijnen JTh, Vasen HFA, Meera Khan P. Genetic Counseling and Presymptomatic DNA-Testing in Hereditary Non-Polyposis Colorectal Cancer. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 40. (zie ook 17.1)

Olschwang S, Tops CMJ, Bisgaard ML, Friedl W, Delhanty JDA, Andersen P, Cottrel S, Hall N, Mohr J, Meera Khan P, Thomas G. Parental origin of new mutations in APC patients: results of an European concerted study. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 43.

Reijden BA van der, Wijmenga C, Liu P, Dauwerse JG, Giles RH, Changur S, Ommen GJB van, Hagemeijer A, Breuning MH. Clustering of genomic inv(16)(p13q22) breakpoints in acute nonlymphocytic leukemia. Blood 1995; 86: 745a.

Vasen HFA, Wijnen JT, Menko FH, Taal BG, Griffioen G, Nagengast FM, Cats A, Kleibeuker JH, Offerhaus GJA, Meijers-Heijboer H, Meera Khan P. Tumour spectrum in HNPCC. In: Meera Khan P, Mohr J (eds). Genetics of FAP and HNPCC. Proceedings of the 5th EUROFAP Workshop, Budapest, Hungary, July 1995: 63. (zie ook 17.1)

Wijnen JTh, Meera Khan P, Vasen HFA, Menko FH, Klift HM van der, Leeuwen C van, Broek M van den, Leeuwen-Cornelisse ISJ van, Nagengast F, Meijers-Heijboer H, Lindhout D, Griffioen G, Cats A, Kleibeuker J, Varesco L, Bertario L, Bisgaard ML, Mohr J, Fodde R. Mutatieanalyse in hereditair nonpolyposis-colorectumcarcinoom. Ned Tijdschr Geneeskd 1995; 139: 2336. (zie ook 17.1)


Miscellaneous

Gruis NA, Bergman W, Frants RR. Muts blijft op voor het familiair melanoom. Tijdschr Kanker 1995; 6: 27-29. (zie ook 30.4)

Klijn JGM, Devilee P, Geel AN van, Tilanus-Linthorst MMA, Dudok-de Wit C, Meijers-Heijboer EJ. Eerste Nederlandse ervaringen met een presymptomatische DNA-test bij familiair mamma-/ovarium carcinoom. Ned Tijdschr Geneeskd 1995; 139: 439-445.

Menko FH, Meera Khan P. Familiale en erfelijke dikke darmkanker. Mogelijkheden voor preventie (erfelijkheidsvoorlichting). Tijdschr Huisartsgeneeskd 1995; 12: 254-259.

Oosterwijk JC, Devilee P, Meijers-Heijboer H, Menko FH, Klijn JGM, Cornelisse CJ. Klonering van het eerste gen voor borst/ovarium kanker (BRCA1), kartering van een tweede genlocus (BRCA2) en consequenties voor de praktijk. Ned Tijdschr Geneeskd 1995; 139: 421-423. (zie ook 9.13)



Area 5A.3 :


PhD-thesis

Ree J van. Generation and analysis of ApoE- and apoC1-deficient mice. Leiden 1995: 1-153.


Reviews

Ommen GJB van, Breuning MH, Raap AK. FISH in genome research and molecular diagnostics. Curr Opin Genet 1995; 5: 304-308. (zie ook 2.C)


Regular publications

Bakker E, Wijmenga C, Vossen RHAM, Padberg GW, Hewitt JE, Wielen MJR van der, Rasmussen K, Frants RR. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995; 2: 39-44.

Deutekom JCT van, Hofker MH, Romberg S, Geel M van, Rommens J, Wright TJ, Hewitt JE, Padberg GWAM, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve 1995; 2: 19-26.

Drift P van der, Chan A, Laureys G, Roy N van, Sickmann G, Dunnen JT den, Westerveld A, Speleman F, Versteeg R. A balanced translocation in a neuroblastoma patient disrupts a cluster of small nuclear RNA U1 and tRNA genes in chromosomal band 1p36. Gene Chromosome Canc 1995; 14: 35-42.

Elbaz A, Vale-Santos JE, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Puissan C, Vila A, Monnier N, Padberg GWAM, Abe K, Feingold N, Guimaraes J, Wintzen AR, Hoeven JH van der, Saudubray JM, Grunfeld JP, Lenoir G, Nivet H, Echenne B, Frants RR, Fardeau M, Lehmann-Horn F, Fontaine B. Hypokalemic periodic paralysis and dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995; 56: 374-380.

Eijdems EWHM, Haas M de, Coco-Martin JM, Ottenheim CPE, Zaman GJR, Dauwerse JG, Breuning MH, Twentyman PR, Borst P, Baas F. Mechanisms of MRP over-expression in four human lung-cancer cell lines and analysis of the MRP amplicon. Int J Cancer 1995; 60: 676-684.

Florijn RJ, Blonden LAJ, Vrolijk H, Wiegant JCAG, Vaandrager JW, Baas F, Dunnen JT den, Tanke HJ, Ommen GJB van, Raap AK. High-resolution FISH for genomic DNA mapping and colour bar-coding of large genes. Hum Mol Genet 1995; 4: 831-836. (zie ook 2.C)

Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PEM, Vos N de, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, Knight M, Marrone BL, Mundt MO, Meincke L, Breuning MH, Gardiner RM, Doggett NA, Mole SE. YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2. Genomics 1995; 29: 478-489.

Kneppers ALJ, Deutz-Terlouw PP, Dunnen JT den, Ommen GJB van, Bakker E. Point mutation screening for 16 exons of the dystrophin gene by multiplex Single-strand Conformation Polymorphism (SSCP) analysis. Hum Mutation 1995; 5: 235-242.

Kochling S, Dunnen JT den, Dworniczak B, Horst J. Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene. Hum Genet 1995; 95: 475-477.

Miller AP, Gustashaw K, Wolff DJ, Rider SH, Monaco AP, Eble B, Schlessinger D, Gorski JL, Ommen GJB van, Weissenbach J, Willard HF. Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22. Hum Mol Genet 1995; 4: 731-739.

Offermans MTC, Sonneveld RD, Bakker E, Deutz-Terlouw PP, Geus B de, Rozing J. Denaturing and non-denaturing gel electrophoresis as methods for the detection of junctional diversity in rearranged T cell receptor sequences. J Immunol Meth 1995; 181: 101-114.

Oosterwijk JC, Wielen MJR van der, Vosse E van de, Voorhoeve E, Bakker E. Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. J Med Genet 1995; 32: 736-739.

Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SKN, Vasquez L, Iughetti P, Bakker E., Keers S, Stephenson A, Strachan T, Manney I, Weissenbach J, Bushby KMD, Zatz M. Confirmation of the 2p locus for mild autosomal recessive limb-girdle muscular dystrophy gen (LGMD2B) in three families allows refinement of the candidate region. Genomics 1995; 27: 192-195.

Ree JH van, Broek WJAA van den, Dahlmans VEH, Wiering B, Frants RR, Havekes LM, Hofker MH. Variability in cholesterol content in serum and aortic tissue in apolipoprotein E-deficient mice comparable in inbred (129/Sv) and outbred (mixed 129/Sv and C57BL/6) mice. Atherosclerosis 1995; 118: 165-167.

Ree JH van, Broek WJJA van den, Zee A van der, Dahlmans VEH, Wieringa B, Frants RR, Havekes LM, Hofker MH. Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects om mRNA expression levels of gene cluster members. Hum Mol Genet 1995; 4: 1403-1409.

Ree JH van, Gijbels MJJ, Broek WJAA van der, Hofker MH, Havekes LM. Atypical xanthoma in apolipoprotein E-deficient mice after cholesterol feeding. Atherosclerosis 1995; 112: 237-243.

Ree JH van, Hofker MH, Broek WJJA van den, Deursen JMA, Boom H van der, Frants RR, Wieringa B, Havekes LM. Increased response to cholesterol feeding in apolipoprotein C1-deficient mice. Biochem J 1995; 305: 905-911.

Roest PAM, Roberts RG, Tuijn AC van der, Hogervorst FBL, Heikoop JC, Ommen GJB van, Dunnen JT den. Screening for translocation-terminating mutations in the DMD-gene by the Protein Truncation Test. Acta Cardiomiol 1995; 6: 17-21. (Niet vermeld in 1994.)

Rosenberg C, Florijn RJ, Rijke FM van de, Blonden LAJ, Raap AK, Ommen GJB van, Dunnen JT den. High resolution DNA Fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication. Nature Genet 1995; 10: 477-479. (zie ook 2.C)

Wuyts W, Ramlakhan S, Hul W van, Hecht JT, Ouweland AMW van den, Raskind WH, Hofstede FC, Reyniers E, Wells DE, Vries B de, Conrad EU, Hill A, Zalatayev D, Weissenbach J, Wagner MJ, Bakker E, Halley DJJ, Willems PJ. Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. Am J Hum Genet 1995; 57: 382-387.

Wijmenga C, Dauwerse JG, Padberg GWAM, Meyer N, Murray JC, Mills K, Ommen GJB van, Hofker MH, Frants RR. FISH mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35. Muscle Nerve 1995; 2: 14-18.

Wijmenga C, Speck NA, Dracopoli NC, Hofker MH, Liu P, Collins FS. Identification of a new murine runt domain-containing gene. Ccfa3, and localization of the human homolog, CCFA3, to chromosome 1p35-pter. Genomics 1995; 26: 611-614.


Book chapters

Dunnen JT den, Liang P, Ommen GJB van, Broeckhoven C van. Mutation detection and diagnosis using PFGE. In: Monaco AP (ed). Pulsed field gel electrophoresis: A practical approach. IRL Press, Oxford, 1995; 45-67.

Murray JC, Ommen GJB van, Buetow KH. Report of the committee on the genetic constitution of chromosome 4. In: Cuticchia AJ (ed). Human Gene Mapping 1994, a compendium. The Johns Hopkins University Press, Baltimore, 1995; 277-326.


Published abstracts

Datson NA, Semina E, Staalduinen AA van, Meershoek EM, Heus JJ, Hofker MH, Ommen GJB van, Dunnen JT den, Murray J, Frants RR. Mapping the translocation breakpoint in Rieger Syndrome. Med Genetik 1995; 2: 249

Datson NA, Staalduinen AA van, Semina E, Meershoek EM, Heus JJ, Hofker MH, Murray J, Frants RR, Ommen GJB van, Dunnen JT den. Mapping translocation breakpoints in Rieger Syndrome within a 200 kb region. Am J Hum Genet 1995; 57: A258.

Den Dunnen JT, Datson NA, Vosse E van de, Dauwerse JG, Ommen GJB van. Scanning for genes with a cosmid-based exon trap vector. Am J Hum Genet 1995; 57: A31.

Den Dunnen JT, Rosenberg C, Rijke FM van de, Wiegant J, Florijn RJ, Blonden LAJ, Raap AK, Ommen GJB van. High resolution 'Fiber-FISH': generation of colour barcodes along large genes and the study of replication in human DNA. Med Genetik 1995; 2: 108.

Vosse E van de, Bent P van der, Datson NA, Schuurman EJM, Bergen AAB, Ommen GJB van, Dunnen JT den. Construction of a transcription map in the region of the Retinoschisis disease gene. Am J Hum Genet 1995; 57: A342.

Vosse E van de, Wielen MJR van der, Bent P van der, Bergen AAB, Oosterwijk JC, Gregory S, Bakker E, Coffey AJ, Ommen GJB van, Dunnen JT den. A YAC contig in the Xp22.1-p22.2 region encompassing the disease loci for RS, KFSD, CLS and HYP; refined localization of KFSD and RS. Med Genetik 1995; 2: 251.