Publications
244 refereed publications in international journals
ISI Web of Knowledge: over 90,000 citations, H-index 48
1973
1. Buys CHCM, Elferink MGL, Bouma JMW, Gruber M, Nieuwenhuis P, Proteolysis of formaldehyde-treated albumin in Kupffer cells and its inhibition by suramin. J Reticuloendothelial Soc 14, 209-223 (1973)
1975
2. Buys CHCM, de Jong ASH, Bouma JMW, Gruber M, Rapid uptake by liver sinusoidal cells of serum albumin modified with retention of its compact conformation. Biochim Biophys Acta 392, 95-100 (1975)
1976
3. Buys CHCM, Uptake and degradation of circulating proteins by the liver. Ph.D. Thesis, Groningen, 1976
1978
4. Buys CHCM, Bouma JMW, Gruber M, Wisse E, Induction of lysosomal storage by suramin. Naunyn-Schmiedeberg's Arch Pharmacol 304, 183-190 (1978)
5. Buys CHCM, Osinga J, Gouw WL, Anders GJPA, Rapid identification of chromosomes carrying silver-stained nucleolus organizing regions. Application to a case of 21/21 Robertsonian translocation. Hum Genet 44, 173-180 (1978)
1979
6.Buys CHCM, Osinga J, Anders GJPA, Age-dependent variability of ribosomal RNA-gene activity in man as determined from frequencies of silver staining nucleolus organizing regions on metaphase chromosomes of lymphocytes and fibroblasts. Mech Ageing Dev 11, 55-75 (1979)
7.Buys CHCM, Anders GJPA, Borkent-Ypma JMM, Blenkers-Platter JAM, van der Hoek-van der Veen AY, Familial transmission of a translocation Y/14. Hum Genet 53, 125-127 (1979)
8.Buys CHCM, Anders GJPA, Gouw WL, Borkent-Ypma JMM, Blenkers-Platter JAM, A comparison of constitutive heterochromatin staining methods in two cases of familial heterochromatin deficiencies. Hum Genet 52, 133-138 (1979)
9.Buys CHCM, Ypma JMM, Gouw WL, Complete deficiency of constitutive heterochromatin on a human chromosome 9. Hum Genet 49, 129-132 (1979)
1980
10.Buys CHCM, Osinga J, The mechanism of differential sister chromatid fluorescence as studied with the GC-specific DNA-ligand mithramycin. Exp Cell Res 125, 105-109 (1980)
11.Buys CHCM, Osinga J, Abundance of protein-bound sulfhydryl and disulfide groups at chromosomal nucleolus organizing regions. A cytochemical study on the selective silver staining of NORs. Chromosoma 77, 1-11 (1980)
12.Buys CHCM, Stienstra S, Involvement of sulfhydryl groups of chromosomal proteins in sister chromatid differentiation. Chromosoma 77, 325-332 (1980)
1981
13.Buys CHCM, Osinga J, Stienstra S, Rapid irradiation procedure for obtaining permanent differential staining of sister chromatids and aspects of its underlying mechanism. Hum Genet 57, 35-38 (1981)
14.Buys CHCM, Gouw WL, Blenker JAM, van Dalen CH, Heterogeneity of human chromosome 9 constitutive heterochromatin revealed by sequential distamycin A/DAP1 staining and C- banding. Hum Genet 57, 28-30 (1981)
15.Buys CHCM, Osinga J, The role of chromosomal proteins in the induction of a differential staining of sister chromatids by light. Histochem J 13, 735-746 (1981)
1982
16.Buys CHCM, Koerts T, Aten JA, Well-identifiable human chromosomes isolated from mitotic fibroblasts by a new method. Hum Genet 61, 157-159 (1982)
17.Buys CHCM, Osinga J, A relation between G- C- and N-band patterns as revealed by progressive oxidation of chromosomes and a note on the nature of N-bands. Genetica 58, 3-9 (1982)
18.Buys CHCM, Osinga J, van der Veen AY, Effects on chromosomal proteins in sister chromatid differentiation by incorporation of 5-bromodeoxyuridine into DNA. Exp Cell Res 137, 452-455 (1982)
19.Buys CHCM, van der Veen AY, Different effects of 33258 Hoechst and DAPI in fluorescent staining of sister chromatids differentially substituted with bromodeoxyuridine. Histochemistry 75, 169-177 (1982)
1984
20.Buys CHCM, van der Veen AY, de Leij L, Chromosome analysis of three cell lines established from small cell carcinoma of the lung. Chromosomes Today 8, 301 (1984)
21.Buys CHCM, Aanstoot GH, Nienhaus AJ, The Giemsa-11 technique for species - specific chromosome differentiation. A simple stain modification leading to dependable direct and sequential staining procedures. Histochemistry 81, 465-468 (1984)
22.Buys CHCM, Aten JA, Koerts T, Osinga J, van der Veen AY, Isolated metaphase chromosomes stabilized by DNA-intercalation or polyamine addition: a comparison. Cell Biol Int Rep 8, 273 (1984)
23.Buys CHCM, Bosgraaf A, Smith, Protelytic capacities of cystic fibrosis and control fibroblasts towards Tamm-Horsfall glycoprotein. Clin Chim Acta 136, 229-234 (1984)
24.Buys CHCM, Koerts T, van der Veen AY, Banding of unfixed mitotic chromosomes in suspension after release from human lymphocytes and fibroblasts. Hum Genet 66, 361-364 (1984)
25.Buys CHCM, Osinga J, Selective staining of the same set of nucleolar phosphoproteins by silver and Giemsa. A combined biochemical and cytochemical study on staining of NORs. Chromosoma 89, 387-396 (1984)
26.Wichers HJ, ten Kate J, Buys CHCM, Huizing HJ, A simple and rapid procedure to obtain nucleated protoplasts from plant material. Cytologia 49, 529-535 (1984)
1985
27.De Leij L, Postmus PE, Buys CHCM, Elema JD, Ramaekers F, Poppema S, Brouwer M, van der Veen AY, Mesander G, The TH, Characterization of three new "variant-type" cell lines derived from small cell carcinoma of the lung. Cancer Res 45, 6024-6033 (1985)
1986
28.Buys CHCM, Mesa J, van der Veen AY, Aten JA, A comparison of the effect of 5-bromodeoxyuridine substitution on 33258 Hoechst and DAPI-fluorescence of isolated chromosomes by bivariate flow karyotyping. Histochemistry 84, 462-470 (1986)
29.Scheffer H, Penninga D, Goor N, Pearson PL, Buys CHCM, An anonymous single copy genomic clone at 13q12-13q13 identifies three RFLPs (HGM8 assignment no. D13S11). Nucleic Acids Res 14, 3148 (1986)
30.Scheffer H, Penninga D, Goor N, Pearson PL, Buys CHCM, A four-allele RFLP identified by an anonymous single copy genomic clone at 13q21-13qter (HGM8 assignment no. D13S12). Nucleic Acids Res 14, 4374 (1986)
31.Scheffer H, van der Lelie D, Aanstoot GH, Goor N, Nienhaus AJ, van der Hout AH, Pearson PL, Buys CHCM, A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus. Hum Genet 14, 249-255 (1986)
1987
32.Aten JA, Buys CHCM, van der Veen AY, Mesa JR, Yu LC, Osinga J, Stap J, Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes. Histochemistry 87, 359-366 (1987)
33.Bowcock AM, Scheffer H, Hebert JM, van der Berg JHM, Buys CHCM, A high frequency RFLP identified by an anonymous single copy genomic clone at 13q14.1-13q14.2, Nucleic Acid Res 15, 382 (1987)
34.Brinker MGL, Poppema S, Buys CHCM, Timens W, Osinga J, Visser L, Clonal immunoglobulin gene rearrangements in tissues involved by Hodgkin's disease. Blood 70, 186-191 (1987)
35.Buys CHCM, Osinga J, van der Veen AY, Mooibroek H, van der Hout AH, de Leij L, Postmus PE, Carritt B, Genome analysis of small cell lung cancer (SCLC) and clinical significance. Eur J Resp Dis, Suppl 149, 70, 29-36 (1987)
36.Kok K, Osinga J, Carritt B, Davis MB, van der Hout AH, van der Veen AY, Landsvater RM, de Leij LFMH, Berendsen HH, Postmus PE, Poppema S, Buys CHCM, Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer. Nature 330, 578-581 (1987)
37.Mooibroek H, Osinga J, Postmus PE, Carritt B, Buys CHCM, Loss of heterozygosity for a chromosome 3 sequence presumably at 3p21 in small cell lung cancer. Cancer Genet Cytogenet 27, 361-365 (1987)
38.Scheffer H, Kema IP, Kondo I, van der Veen AY, Ikeuchi T, Buys CHCM, Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease. Hum Genet 77, 335-337 (1987)
1988
39.Berendsen HH, de Leij LFMH, de Vries EGE, Mesander G, Mulder NH, de Jong B, Buys CHCM, Postmus PE, Poppema S, Sluiter HJ, The TH, Characterization of three small cell lung cancer lines established from one patient during longitudinal follow-up. Cancer Res 48, 6891-6899 (1988)
40.Bowcock AM, Farrer LA, Hebert JM, Agger M, Sternlieb I, Scheinberg IH, Scheffer H, Buys CHCM, Frydman M, Bonne-Tamir B, Cavalli-Sforza LL, Eight closely linked loci place the Wilson's disease locus within 13q14-q21. Am J Hum Genet 43, 664-674 (1988)
41.Buys CHCM, Prenataal uitsluiten van dragerschap voor Huntington-gen. Ned Tijdschr Obst & Gyn 101, 50 (1988)
42.Buys CHCM, Kok K, van der Veen AY, Carritt B, Osinga J, van der Hout AH, Davis MB, de Leij LFMH, Postmus PE, Berendsen HH, A deletion of the short arm of chromosome 3 is common to all major types of lung cancer. Lung cancer 4, 121-127 (1988)
43.Marcus EM, Smith BA, Telenius H, Landsvater RM, Buys CHCM, Ferrari S, Ponder BAJ, Mathew CGP, BcII RFLP for the human vimentin gene. Nucleic Acids Res 16, 9068 (1988)
44.Postmus PE, de Leij L, van der Veen AT, Mesander G, Buys CHCM, Elema JD, Two small cell lung cancer cell lines established from rigid bronchoscope biopsies. Eur J Cancer Clin Oncol 24, 753-763 (1988)
45.Schwartz M, Super M, Schmidtke J, Buys C, Farall M, Halley D, Krawczak M, Poncin JE, Loukopoulos D, Devoto M, Prenatal diagnosis of cystic fibrosis using linked DNA probes. Prenatal Diagnosis 8, 619-624 (1988)
46.Te Meerman GJ, ten Kate LP, Buys CHCM, Prenatal diagnosis of cystic fibrosis. Lancet ii, 1319 (1988)
47.Te Meerman GJ, ten Kate LP, Cobben JM, van Essen T, Buys CHCM, Prenatal diagnosis of cystic fibrosis where single affected child has died. Lancet ii, 745 (1988)
48.Ten Kate LP, te Meerman GJ, Buys CHCM, Cystic fibrosis allele segregation (Scientific correspondence) Nature 334, 20 (1988)
49.Van der Hout AH, Kok K, van den Berg A, Oosterhuis JW, Carritt C, Buys CHCM, Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma. Cancer Genet Cytogenet 32, 281-285 (1988)
50.Van der Hout AH, van der Veen AY, Aten JA, Buys CHCM, Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion. Hum Genet 80, 161-164 (1988)
51.Zang KD, Fischer H, van der Hout A , Unteregger G, Henn W, Scheffer H, Wollenberg C, Buys CHCM, Blin N, A human glioblastoma line with karyotypical nullisomy 13 containing several chromosome 13-specific sequences. Cancer Genet Cytogenet 33, 127-132 (1988)
1989
52.Bowcock AM, Farrer LA, Hebert JM, Agger M, Bale AE, Buys CHCM, James D, Doniskeller H, Cavalli-Sforza LL, A fine-structure linkage map for chromosome 13. Cytogenet Cell Genet 51, 966-967 (1989)
53.Bowcock AM, Hebert JM, Scheffer H, Penninga D, Buys CHCM, The single copy probe pG24E2.4 [D13S21] reveals a Bsp1286 RFLP at 13q14.1-q14.2. Nucleic Acids Res 17, 8398 (1989)
54.Bowcock AM, Hebert JM, Scheffer H, Penninga D, Buys CHCM, The anonymous probe pG50 identifying the locus D13S24 detects a two allele RFLP with SspI. Nucleic Acids Res 17, 8399 (1989)
55.Buys CHCM, Jong B de, Oosterhuis JW, Genetica van kanker. In: Pronk e.a., Medische Genetica. Bunge, Utrecht 191-204 (1989)
56.Kok K, Osinga J, Schotanus DC, Berendsen HH, de Leij LFMH, Buys CHCM, Amplification and expression of different myc-family genes in a tumor specimen and 3 cell lines derived from one small-cell lung cancer patient during longitudinal follow-up. Int J Canc 44, 75-78 (1989)
57.Landsvater RM, Mathew CGP, Smith BA, Marcus EM, te Meerman GJ, Lips CJM, Geerdink RA, Nakamura Y, Ponder BAJ, Buys CHCM, Development of multiple endocrine neoplasia type 2a does not involve substantial deletions of chromosome 10. Genomics 4, 246-250 (1989)
58.Leduc F, Brauch H, Haij C, Dobrovic A, Kaye F, Gazdar A, Harbour JW, Pettengill OS, Sorenson GD, van den Berg A, Kok K, Campling B, Paquin F, Bradley WEC, Zbar B, Minna J, Buys C, Ayoub J, Loss of heterozygosity in a gene coding for a thyroid hormone receptor in lung cancers. Am J Hum Genet 44, 282-287 (1989)
59.Maciejko D., J. Bal, T. Mazurczak, te Meerman GJ, Buys C, Oostra B, Halley D, Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations. Hum Genet 83, 220-222 (1989)
60.Ponder BAJ, Smith BA, Marcus EM, Nakamura Y, Landsvater RM, Buys CHCM, Mathew CGP, Genetic events in tumorigenesis in multiple endocrine neoplasia type 2. Cancer cells 7, 219-221 (1989)
61.Ponder BAJ, Smith BA, Ponder MA, Nakamura A, Landsvater RM, Buys CHCM, Matthew CGP, Genetic events in tumor formation in multiple endocrine neoplasia type 2. In: Recessive oncogenes and tumor suppression, Cavenee W, Hastie N, Stanbridge E (eds), Cold Spring Harbor Laboratory Press, 33-38 (1989)
62.Scheffer H, te Meerman GJ, Kruize YCM, van den Berg JHM, Penninga DP, Tan KEWP, der Kinderen DJ, Buys CHCM, Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation revealed by combined use of markers within and flanking the RB1 gene. Am J Hum Genet 45, 552-560 (1989)
63.Scheffer H, Verlind E, Penninga D, te Meerman GJ, ten Kate L, Buys C, Rapid screening for deltaF508 deletion in cystic fibrosis. Lancet ii, 1345-1346 (1989)
64.Te Meerman GJ, Buys CHCM, Remarks on the article "Use of linkage equilibrium data in prenatal diagnosis of cystic fibrosis" by L. Strain et. al. Hum Genet 82, 96-97 (1989)
65.Ten Kate LP, te Meerman GJ, Buys CHCM, Effectiveness of prevention of cystic fibrosis by artificial insemination by donor can be markedly improved by DNA-analysis of sperm donors. Am J Med Genet 32, 148-149 (1989)
66.Van der Hout AH, Kok K, van der Veen AY, Osinga J, de Leij LFMH, Buys CHCM, Localization of amplified c-myc and n-myc in small cell lung cancer cell lines. Cancer Genet Cytogenet 38, 1-8 (1989)
1990
67.Brauch H, Tory K, Kotler F, Gazdar AF, Pettengill OS, Johnson B, Graziano S, Winton T, Buys CHCM, Sorenson GD, Poiesz BJ, Minna JD, Zbar B, Molecular mapping of deletion sites in the short arm of chromosome 3 in human lung cancer. Genes, Chromosomes Cancer 1, 240-246 (1990)
68.Houwen RHJ, Scheffer H, te Meerman GJ, van der Vlies P, Buys CHCM, Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14. Hum Genet 85, 560-562 (1990)
69.Osinga J, Buys CHCM, DNA-onderzoek. In: Mens en Moeras, W.A.B. v.d. Sanden (ed). Drents Museum , Assen, 125-127 (1990)
70.Scheffer H, Bruinvels DJ, te Meerman GJ, Verlind E, Penninga D, Dankert J, ten Kate LP, Buys CHCM, Frequency of the delta F508 mutation and XV2C, KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium. Hum Genet 85, 425-427 (1990)
71.Staal MJ, Hogen Esch RI, Tomasini R, Kraayenbrink R, Kema IP, Buijs RM, Go KG, Zuiderveen F, Buys CHCM, Qualitative and quantitative examination of rat and human fetal dopaminergic grafts. Stereotact Funct Neurosurg 54/55, 290-296 (1990)
1991
72.Buys CHCM, Second European workshop on cytogenetics and molecular genetics of human solid tumors. Overview and prospects. Cancer Genet Cytogenet 52, 207-213 (1991)
73.Cobben JM, de Visser M, Buys CHCM, DNA-onderzoek bij proximale spinale spieratrofieën. Ned Tijdschr Geneeskd 135, 1340-1342 (1991)
74.Houwen RHJ, Pautler SE, Barwell JA, Arden K, Buchanan JA, James CD, Cavenee WK, Buys CHCM, Cowell JK, Cox DW, Isolation and regional localization of 25 anonymous DNA probes on a chromosome 13 hybrid panel. Cytogenet Cell Genet 57, 87-90 (1991)
75.Kok K, Fan MZ, Jonas A, van den Berg A, Carritt B, Buys CHCM, A new RFLP identified at the D3S48 locus. Nucleic Acids Res 19, 4797 (1991)
76.Scheffer H, Kruize YCM, Osinga J, Kuiken G, Oosterhuis JW, Leeuw JA, Schraffordt Koops H, Buys CHCM, Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma. Cancer Genet Cytogenet 53, 45-55 (1991)
77.Suijkerbuijk RF, van der Veen AY, van Echten J, Buys CHCM, de Jong B, Oosterhuis JW, Warburton DA, Cassiman JJ, Schonk D, Geurts van Kessel A, Demonstration of the genuine Iso (12p) character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization. Am J Hum Genet 48, 269-273 (1991)
78.Taanman JW, Veen AY van der, Schrage C, Vries H de, Buys CHCM, Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation. Hum Genet 87, 325-327 (1991)
79.Van der Hout AH, Brown RS, Li FP, Buys CHCM, Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma. Cancer Genet Cytogenet 51, 121-124 (1991)
80.Van der Hout AH, van der Vlies P, Wijmenga C, Li FP, Oosterhuis JW, Buys CHCM, The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB. Genomics 11, 537-542 (1991)
81.Van Essen AJ, Kok K, van den Berg A , de Jong B, Stellink F, Bos AF, Scheffer H, Buys CHCM, Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Hum Genet 87, 151-154 (1991)
1992
82.Carritt B, Kok K, van den Berg A, Osinga J, Pilz A, Hofstra RMW, Davis MB, van der Veen AY, Rabbitts PH, Gulati K, Buys CHCM, A gene from human chromosome region 3p21 with reduced expression in small cell lung cancer. Cancer Res 52, 1536-1541 (1992)
83.Miller CW, Simon K, Aslo A, Kok K, Yokota J, Buys CHCM, Terada M, Koeffler HP, p53 mutations in human lung tumors. Cancer Res 52, 1695-1698 (1992)
84.Osinga J, Buys CHCM, van der Sanden WAB, DNA and the Dutch bog bodies. Ancient DNA Newsletter 1, 21-22 (1992)
85.Reuvekamp PTW, Stulp RP, Schraffordt Koops H, Oosterhuis JW, Scheffer H, Buys CHCM, Analysis of a metastasizing testicular mixed gonadal stromal tumor with osteosarcoma components suggests that a malignant tumor with the histology of osteosarcoma may develop without primary involvement of RB1 and TP53. Cancer Res 52, 6705-6707 (1992)
86.Scheffer H, Houwen RHJ, te Meerman GJ, Loessner J, Bachmann B, Kunert E, Verlind E, Buys CHCM, Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene. Hum Genet 89, 607-611 (1992)
87.Shapiro DN, Valentine MB, Sublett JE, Sinclair AE, Tereba AM, Scheffer H, Buys CHCM, Look AT, Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma. Genes, Chromosomes and Cancer 4, 241-249, 1992
88.Troelstra C, Landsvater RM, Wiegant J, Ploeg M v.d., Viel G, Buys CHCM, Hoeijmakers JHJ, Localization of the nucleotide excision repair gene ERCC6 to human chromosome 10q11-q21. Genomics 12, 745-749 (1992)
89.Verbeek MAE, Elands JPM, de Leij LFMH, Buys CHCM, Carney DN, Bepler G, Roebroeck AJM, van de Ven WJM, Burbach JPH, Expression of the vasopressin and gastrin-releasing peptide genes in small cell lung carcinoma cell lines. Pathobiology 60, 136-142 (1992)
1993
90.Boschman GA, Buys CHCM, van der Veen AY, Rens W, Osinga J, Slater RM, Aten JA, Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro and in situ hybridization of the amplified product. Genes, Chromosomes and Cancer 6, 10-16 (1993)
91.Cobben JM, Scheffer H, de Visser M, Osinga J, Frants R, van der Steege G, Wijmenga C, ten Kate LP, van Ommen GJB, Buys CHCM, Linkage and apparent heterogeneity in proximal spinal muscular atrophies. Neuromusc Disord 3, 327-333 (1993)
92.Cobben JM, de Visser M, Scheffer H, Osinga J, van der Steege G, Buys CHCM, van Ommen GJ, ten Kate LP, Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I. J Neurol Neurosurg Psychiat 56, 319-321 (1993)
93.HogenEsch RL, Staal MJ, Kema LP, Buys CHCM, Go KG, Utility of fragmented human fetal tissue as a potential dopaminergic brain graft in Parkinson's disease. Stereotact Funct Neurosurg 61, 1-11 (1993)
94.Kok K, van den Berg A, Buchhagen DL, Carritt B, Buys CHCM, A PCR-Aided transcript titration assay revealing very low expression of a gene at band 3p21 in 33 cell lines derived from all types of lung cancer. Eur J Hum Genet 1, 156-163 (1993)
95.Kok K, Hofstra R, Pilz A, van den Berg A, Terpstra P, Buys CHCM, Carritt B, A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme. Proc Natl Acad Sci (USA) 90, 6071-6075 (1993)
96.Kooy RF, van der Veen AY, Verlind E, Houwen RHJ, Scheffer H, Buys CHCM, Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13. Hum Genet 91, 504-506 (1993)
97.Landsvater RM, Rombouts AGM, te Meerman GJ, Jansen Schillhorn-van Veen JM, Berends MJH, Geerdink RA, Struyvenberg A, Buys CHCM, Lips CJM, The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred. Am J Hum Genet 52, 335-342 (1993)
98.Van den Berg E, van der Hout AH, Oosterhuis JW, Störkel S, Dijkhuizen T, Dam A, Zweers HMM, Mensink HJA, Buys CHCM, Jong B de, Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification. Int J Cancer 55, 223-227 (1993)
99.Van der Hout AH, van den Berg E, van der Vlies P, Dijkhuizen T, Störkel S, Oosterhuis JW, de Jong B, Buys CHCM, Loss of heterozygosity at the short arm of chromosome 3 in renal-cell cancer correlates with the cytological tumour type. Int J Cancer 53, 353-357 (1993)
1994
100.Brahe C, Velona I, van der Steege G, Zappata S, van der Veen AY, Osinga J, Tops CMJ, Fodde R, Khan PM, Buys CHCM, Neri G, Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet 93, 494-501 (1994)
101.Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetti P, Pasini B, Bozzano M, Buys CHCM, Romeo G, DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene. Oncogene 9, 3025-3029 (1994)
102.Cobben JM, Scheffer H, de Visser M, Begeer JH, Molenaar WM, van der Steege G, Buys CHCM, van Ommen GJ, ten Kate LP, Apparent SMA I unlinked to 5q. J Med Genet 31, 242-244 (1994)
103.Dijkstra DJW, Scheffer H, Buys CHCM, A novel mutation (G1249R) in exon 20 of the CFTR gene. Hum Mutation 4, 161-162 (1994)
104.Drabkin H. Boldog F, Roche J, Todd S, Swanton M, Varkony T, Dessev G, Li S, Waggoner B, Franklin W, Naylor S, Kok K, Buys C, Gemmill R, Tumor suppressor loci from the short arm of chromosome 3. J Lung Cancer 11, 153-154 (1994)
105.Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek MMF, Crossey PA, Richards FM, Cairns P, Affara NA, Ferguson-Smith MA, Buys CHCM, Maher ER, Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in nonfamilial clear cell renal carcinoma. Hum Mol Genet 3, 2169-2173 (1994)
106.Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Höppener JWM, Ploos van Amstel HK, Romeo G, Lips CJM, Buys CHCM, A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367, 375-376 (1994)
107.Kok K, van den Berg A , Veldhuis PMJF, van der Veen AY, Franke M, Schoenmakers EFPM, Hulsbeek MMF, van der Hout AH, de Leij L, van de Ven W, Buys CHCM, A homozygous deletion in a small cell lung cancer cell line involving a 3p21 region with a marked instability in YACs. Cancer Res 54, 4183-4187 (1994)
108.Kooy RF, Verlind E, Houwen RHJ, Shapiro DN, Hawthorn LA, Cowell JK, Scheffer H, Buys CHCM, A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals. Eur J Hum Genet 2, 59-65 (1994)
109.Kooy RF, Wijngaard A, Verlind E, Vergnaud G, Scheffer H, Buys CHCM, The EUROGEM map of Human Chromosome 13. Eur J Hum Genet 2, 228-229 (1994)
110.Naylor SL, Buys CHCM, Carritt B, Report of the fourth international chromosome 3 workshop. Cytogenet Cell Genet 65, 2-34 (1994)
111.Van der Steege G, Cobben JM, Brahe C, Osinga J, Zappata S, Scheffer H, Neri G, van Ommen GJB, ten Kate LP, Buys CHCM, Identification of key recombinants in multiplex SMA-families. Genomics 22, 219-222 (1994)
112.Withoff S, Smit EF, Meersma GJ, van den Berg A, Timmer-Bosscha H, Kok K, Postmus PE, Mulder NH, de Vries EGE, Buys CHCM, Quantitation of DNA topoisomerase II a mRNA levels in a small cell lung cancer cell line and two drug resistant sublines using a PCR-aided transcript titration assay. Lab Invest 71, 61-66 (1994)
1995
113.Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CHCM, Chakravarti A, Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4, 821-830 (1995)
114.Buys CHCM, Medical cytogenetics. Chromosome Res 3, suppl. 1, 17-18 (1995)
115.Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM, Deletions of the survival motor neuron (SMN) gene in unaffected siblings of patients with spinal muscular atrophy (SMA). Am J Hum Genet 57, 805-808 (1995)
116.Hofstra MW, Stelwagen T, Pasini B, van der Veen AY, Ponder BAJ, Nakamura Y, Romeo G, Buys CHCM, Ordering of markers in the pericentromeric region of chromosome 10. Hum Genet 96, 116-118 (1995)
117.Kok K, van den Berg A, Veldhuis PMJF, Franke M, Terpstra P, Buys CHCM, The genomic structure of the human UBE1L gene. Gene Expression 4, 163-175 (1995)
118.Kooy RF, Verlind E, Wijngaard A, Shapiro DN, Scheffer H, Buys CHCM, A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND. Hum Genet 95, 589 (1995)
119.Kooy RF, Wijngaard A, Verlind E, Scheffer H, Buys CHCM, An integrated map of human chromosome 13 allowing regional localisation of genetic markers. Eur J Hum Genet 3, 180-187 (1995)
120.Liu Y, Hermanson M, Grandér D, Merup M, Wu X, Heyman M, Rasool O, Juliusson G, Gahrton G, Detlofsson R, Nikiforova N, Buys CHCM, Söderhäll S, Yankovsky N, Zabarovsky E, Einhorn S, 13q Deletions in lymphoid malignancies. Blood 86, 1911-1915 (1995)
121.Michaelis SC, Bardenheuer W, Lux A, Schramm A, Gockel A, Siebert R, Willers C, Schmidtke K, Todt B, Hout AH van der, Buys CHCM, Heppell-Parton AC, Rabbitts PH, Smith D, LePaslier D, Cohen D, Opalka B, Schütte J, Characterization and chromosomal assignment of yeast artificial chromosomes containing human 3p13-p21 - specific sequence tagged sites. Cancer Genet Cytogenet 81, 1-12 (1995)
122.Pasini B, Hofstra RMW, Yin L, Bocciardi R, Santamaria G, Grootscholten PM, Ceccherini I, Priolo M, Buys CHCM, Romeo G, The physical map of the human RET proto-oncogene. Oncogene 11, 1737-1743 (1995)
123.Van den Berg A , van der Veen AY, Hulsbeek MMF, Kovacs G, Gemmill RM, Drabkin HA, Buys CHCM, Defining the position of the breakpoint of the constitutional t(3;6) occurring in a family with renal cell carcinoma. Genes Chromosom Cancer 12, 224-228 (1995)
124.Van der Hout AH, Hulsbeek MMF, Buys CHCM, Construction of a pulsed-field map around D3S3 using partially demethylated DNA. Cytogenet Cell Genet 70, 134-137 (1995)
125.Van der Steege G, Cobben JM, Osinga J, Scheffer H, van Ommen GJB, Buys CHCM, A sublocus of the multicopy microsatellite marker CMS1 maps proximal to SMA as shown by recombinant analysis. Hum Genet 96, 589-591 (1995)
126.Van der Steege G, Draaijers TG, Grootscholten P, Osinga J, Anzevino R, Velona I, Brahe C, Scheffer H, van Ommen GJB, Buys CHCM, A provisional transcript map of the spinal muscular atrophy (SMA) critical region. Eur J Hum Genet 3, 87-95 (1995)
127.Van der Steege G, Grootscholten PM, van der VliesP, Draaijers TG, Osinga J, Cobben JM, Scheffer H, Buys CHCM, PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular dystrophy. Lancet 345, 985-986 (1995)
128.Verschuuren-Bemelmans CC, Brunt ERP, Burton M, Mensink RGJ, van der Meulen MA, Smit NH, Stolte-Dijkstra I, Buys CHCM, Scheffer H, Refinement by linkage analysis in 2 large families of the candidate region of the 3rd locus (SCA3) for autosomal-dominant cerebellar-ataxia type-1. Hum Genet 96, 691-694 (1995)
1996
129.Bardenheuer W, Michaelis S, Lux A, Vieten L, Bröcker F, Jülicher K, Siebert R, Willers C, van der Hout AH, Buys CHCM, Smith DI, LePaslier D, Cohen D, Schütte J, Opalka B, YAC-Contig construction for human chromosome region 3p14.1. Genome Research 6, 176-186 (1996)
130.Cobben JM, Scheffer H, Visser M De, van der Steege G, Verhey JBGM, Osinga J, Burton M, Mensink RGJ, Grootscholten PM, ten Kate LP, Buys CHCM, Prenatal prediction of spinal muscular atrophy (SMA): experience with linkage studies and consequences of present SMN-deletion analysis. Eur J Hum Genet 4, 231-236 (1996)
131.De Vries HG, Collée M, Veldhuizen MHR, Achterhof L, Smit Sibinga C Th, Scheffer H, Buys CHCM, ten Kate LP, Validation of determination of D F508mutations of the cystic fibrosis gene in over 11,000 mouthwashes. Hum Genet 97, 334-336 (1996)
132.De Vries HG, van der Meulen MA, Rozen R, Halley DJJ, Scheffer H, ten Kate LP, Buys CHCM, te Meerman GJ, Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet 98, 304-309 (1996)
133.Hayes VM, Oosthuizen CJJ, Kotze MJ, Buys CHCM, A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma. Mol Cell Probes 10, 393-395 (1996)
134.Hofstra RMW, Cheng NC, Hansen C, Stulp RP, Stelwagen T, Clausen N, Tommerup N, Caron H, Westerveld A, Versteeg R, Buys CHCM, No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma. Hum Genet 97, 362-364 (1996)
135.Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHCM, A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg). Nature Genet 12, 445-447 (1996)
136.Hofstra RMW, Stelwagen T, Stulp RP, de Jong D, Hulsbeek M, van den Berg A, Landsvater RM, Vermey A, Molenaar WM, Lips CJM, Buys CHCM, Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J. Clin Endocrinol Metab 81, 2881-2884 (1996)
137.Hofstra RMW, Sijmons RH, Stelwagen T, Stulp RP, Kousseff BG, Lips CJM, Steijlen PM, Van Voorst Vader PC, Buys CHCM. RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J Invest Dermatol 107, 215-218 (1996)
138.Landsvater RM, Jansen RPM, Hofstra RMW, Buys CHCM, Lips CJM, Ploos van Amstel HK, Mutation analysis of the RET proto-oncogene in Dutch families with MEN2A, MEN2B and FMTC: Two novel mutations and one de novo mutation for MEN2A. Hum Genet 97, 11-14 (1996)
139.Landsvater RM, de Wit MJ, Zewald RA, Hofstra RMW, Buys CHCM, Ploos van Amstel H-K, Höppener JWM, Lips JM, Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN2) gene carriers. Cancer Res 56, 4853-4855 (1996)
140.Naylor SL, Carritt B, Boileau C, Beroud C, Alexander C, Allderdice P, Alimov A, Ashworth T, Bonifas J, Bugert P, Buys CHCM, Chipperfield MA, Deng G, Drabkin H, Gemmill RM, Grompe M, Joensuu T, Jonasdottir A, Gizatullin R, Krols L, Leach RJ, Lott ST, Killary A, Martinsson T, Messiaen L, O'Connel P, Opalka B, Plaetke R, Sankila EM, Smith DI, Strachen T, van den Berg A, Zabarovsky E, Report of the sixth international workshop on human chromosome 3 mapping 1995. Cytogenet Cell Genet 72, 225-270 (1996)
141.Nyström-Lahti M, Wu Y, Moisio AL, Hofstra RMW, Mecklin JP, Järvinen HJ, Leisti J, Buys CHCM, de la Chapelle A, Peltomäki P, DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colon cancer. Hum Mol Genet 5, 763-769 (1996)
142.Todd MC, Xiang RH, Garcia DK, Kerbacher KE, Moore SI, Hensel CH, Liu P, Siciliano MJ, Kok K, van den Berg A , Veldhuis P, Buys CHCM, Killary AM, Naylor SL, An 80 Kb P1clone from chromosome 3p21.3 suppresses tumor growth in vivo. Oncogene 13, 2387-2396 (1996)
143.Van den Berg A, Hulsbeek MMF, de Jong D, Kok K, Veldhuis PMJF, Roche J, Buys CHCM, A major role for a 3p21 region and lack of involvement of the t(3;8) breakpoint region in the development of renal cell carcinoma suggested by loss of heterozygosity analysis. Genes Chrom Cancer 15, 64-72 (1996)
144.Van den Berg A, Kooy RF, Hulsbeek MMF, de Jong D, Kok K, van der Veen AY, Buys CHCM, Ordering of polymorphic markers in the chromosomal region 3p21. Cytogenet Cell Genet 72, 225-228 (1996)
145.Van Orsouw N, Li D, van der Vlies P, Scheffer H, Eng C, Buys CHCM, Li FP, Vijg J, Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. Hum Mol Genet 5, 755-761 (1996)
146.Van der Steege G, 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)
147.Verschuuren-Bemelmans CC, Brunt ERP, Burton M, Mensink RGJ, van der Meulen MA, Smit NH, Stolte-Dijkstra I, Buys CHCM, Scheffer H, Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type 1. Hum Genet 96, 691-694 (1996)
148.Wu Y, Hofstra RMW, Scheffer H, Uitterlinden AG, Mullaart E, Buys CHCM, Vijg J, Comprehensive and accurate mutation scanning of the CFTR-gene by two-dimensional DNA electrophoresis. Hum Mutation 8, 160-167 (1996)
149.Xiang RH, Hensel CH, Garcia DK, Carlson H, Kok K, Daly MC, Kerbacher K, van der Berg A, Veldhuis P, Buys CHCM, Naylor SL, Isolation of human semaphorin III/F gene at chromosome 3p21, a region deleted in lung cancer. Genomics 32, 39-48 (1996)
1997
150.Dijkhuizen T, van den Berg E, van den Berg A, van de Veen A, Dam A, Faber H, Buys CHCM, Störkel S, de Jong B, Genetics as a diagnostic tool in sarcomatoid renal-cell cancer. Int J Cancer, 72, 265-269 (1997)
151.Dørum A, Møller P, Kamsteeg EJ, Scheffer H, Burton M, Heimdal KR, Mehle LO, Hovig E, Tropé CG, van der Hout AH, van der Meulen MA, Buys CHCM, te Meerman GJ, Haplotype analysis, a strategy for identifying prevalent mutations, demonstrating a Norwegian BRCA1 founder mutation. Eur. J Cancer, 33, 2390-2392 (1997)
152.Hofstra RMW, Osinga J, Buys CHCM, Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet5, 180-185 (1997)
153.Hofstra RMW, Fattoruso O, Quadro L, Wu Y, Libroia A, Verga U, Colantuoni V, Buys CHCM, A novel point mutation in the intracellular domain of the RET proto-oncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab, 82, 4176-4178 (1997)
154.Kelly JL, Mulcahy TM, O'Riordain DS, Buys CHCM, Hofstra RMW, McCarthy T, Kirwan WO, Coexistent Hirschsprung's disease and esophageal achalasia in male siblings. J Pediatric Surgery 32, 1809-1811 (1997)
155.Kok K, Naylor SL, Buys CHCM, Deletions of the short arm of chromosome 3 in solid tumors and the search for suppressor genes. Adv Cancer Res 71, 27-92 (1997)
156.Nollet F, van den Berg A, Kersemaekers A-M, Cleton-Jansen A-M, Berx G, van der Veen AY, Eichperger C, Wieland I, de Grève J, Liefers G-J, Xiao W-H, Buys CHCM, Cornelisse C, van Roy F, Allelic imbalance at the b -catenin gene (CTNNB1 at 3p22-21.3) in various human tumor types. Int.J Oncol 11, 311-318 (1997)
157.Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T Jr, te Meerman GJ, Sonnenberg A, Buys CHCM, Jonkman MF, Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recesive disorder: the example of the collagen type XVII (col17a1) locus in generalized atrophic benign epidermolysis bullosa (Gabeb). Hum Genet, 100, 230-235 (1997)
158.Van den Berg A, Buys CHCM, Involvement of multiple loci on chromosome 3 in renal cell cancer development. Genes Chrom Cancer 19, 59-76 (1997)
159.Van den Berg A, Draaijers TG, Kok K, Timmer T, van der Veen AY, Veldhuis PMJF, Gerharts CD, Naylor SL, Smith DI, Buys CHCM, Normal FHIT transcripts in renal cell cancer and lung cancer-derived cell lines, including one with a homozygous deletion in the FRA3B region. Genes Chrom Cancer 19, 220-227 (1997)
160.Van den Berg A, Dijkhuizen T, Draaijers TG, Hulsbeek MMF, Maher ER, van den Berg E, Störkel S, Buys CHCM, Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development. Genes Chrom Cancer 19, 228-232 (1997)
161.Van Essen AJ, Kneppers ALJ, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen G-JB, Buys CHCM, Bakker E, The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy. An updated protocol. J Med Genet, 34, 805-812 (1997)
162.Visser M, Hofstra RMW, Stulp RP, Wu Y, Buys CHCM, Willemze R, Landegent JE, Absence of mutations in the RET gene in acute myeloid leukemia. Ann Haematol 75, 87-90 (1997)
163.Wu Y, Nyström-Lahti M, Osinga J, Looman MWG, Peltomäki P, Aaltonen LA, Hofstra RMW, de la Chapelle A, Buys CHCM, MSH2 and MLH1 mutations in sporadic replication error positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chrom Cancer 18, 269-278(1997)
1998
164.Clifford SC, Prowse AH, Affara NA, Buys CHCM, Maher ER, Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chrom Cancer 22, 200-209 (1998)
165.Hayes VM, Hofstra RMW, Buys CHCM, Hollema H, van der Zee AGJ, Homozygous arginine-72 in wild type p53 does not increase cervical cancer risk. The Lancet, 352, 1756 (1998)
166.Kapadnadze B, Kasuba V, Baranova A, Rasool O, van Everdink W, Liu Y, Syomov A, Corcoran M, Poltaraus A, Brodyansky V, Syomova N, Kazakov A, Ibbotson R, van den Berg A, Gizatullin R, Fedorova L, Sulimova G, Zelenin A, Deaven L, Lehrach H, Grander D, Buys C, Oscier D, Zabarovsky E, Einhorn S, Yankovsky N, A cosmid and cDNA fine physical map of a human chromosome 13q14 region frequently lost in B-cell chronic lymphocytic leukemia. FEBS lett 426, 266-270 (1998)
167.Scheffer H, Brunt ERP, Mol GJJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RMW, Buys CHCM, Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet 102, 464-466 (1998)
168.Sijmons RH, Hofstra RWM, Wijburg FA, Links TP, Zwierstra RP, Vermey A, Aronson DC, Tan-Sindhunata G, Brouwers-Smalbraak GJ, Maas SM, Buys CHCM, Oncological implications of RET gene mutations in Hirschsprung disease. Gut, 43, 542-547 (1998)
169.Tuerlings JH, Mol B, Kremer JA, Looman M, Meueleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H, Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection. Fertil Steril 69, 899-903 (1998)
170.Wu Y, Hayes VM, Osinga J, Mulder IM, Looman MWG, Buys CHCM, Hofstra RMW, Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Nucleic Acids Res 26, 5432-5440 (1998)
1999
171.Brandsma M, Buys C, Klasen E, Genome research in The Netherlands: evaluation and prospects. Genome Digest 6, 4-6 (1999)
172.Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CHCM, Meijers C, Hofstra RMW, A consanguineous family with Hirschsprung disease, microcephaly and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet, 36, 485-489 (1999)
173.Carvalho B, Seruca R, Carneiro F, Buys CHCM, Kok K, Substantial reduction of the gastric carcinoma critical region at 6q16.3-q23.1. Genes Chrom Cancer, 26, 29-34 (1999)
174.Geneste O, Bidaud C, De Vita G, Hofstra RMW, Tartare-Deckert S, Buys CHCM, Lenoir GM, Santoro M, Billaud M, Two distinct mutations of the RET receptor causing Hirschsprung’s disease impair the binding of signalling effectors to a multifunctionaldocking site. Hum Mol Genet 8, 1989-1999 (1999)
175.Hayes VM, Bleeker W, Verlind E, Timmer T, Karrenbeld A, Plukker JT, Marx MP, Hofstra RMW, Buys CHCM, Comprehensive TP53 denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue. Diagn Mol Pathol, 8, 2-10 (1999)
176.Hayes VM, Dirven CMF, Dam A, Verlind E, Molenaar WM, Mooij JJA, Hofstra RMW, Buys CHCM, High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors. Brain Pathol, 9, 463-467 (1999)
177.Hayes VM, Wu Y, Osinga J, Mulder IM, van der Vlies P, Elfferich P, Buys CHCM, Hofstra RMW, Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis. Nucl Acids Res 27, 29-33 (1999)
178.Hofstra RMW, Valdenaire O, Arch E, Osinga J, Kroes H, Löffler B-M, Hamosh A, Meijers C, Buys CHCM, A loss of function mutation in the Endothelin-Converting Enzyme 1 (ECE 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64, 304-308(1999)
179.Kerstjens-Frederikse WS, Hofstra RMW, van Essen AJ, Meijers JHC, Buys CHCM, A Hirschsprung disease locus at 22q11? J Med Genet 36, 221-224 (1999)
180.Kok K, Mosselaar A, Faber H, Dijkhuizen T, Draaijers TG, van der Veen AY, Buys CHCM, Schrander-Stumpel CTRM, Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6). J Med Genet 36, 346-347 (1999)
181.Mclaughlin PMJ, Kroesen B-J, Dokter WHA, van der Molen H, de Groot M, Brinker MGL, Kok K, Ruiters MHJ, Buys CHCM, de Leij LFMH, An EGP-2/Ep-CAM expressing transgenic rat model to evaluate antibody mediated immunotherapy. Cancer Immunol Immunother 48, 303-311 (1999)
182.Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CHCM, Smit GPA, Scheffer H, Glycogen storage type 1a: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief #220. On line. Hum Mut 13, 173 (1999)
183.Timmer T, Terpstra P, van den Berg A, Veldhuis PMJF, ter Elst A, van der Veen AY, Kok K, Naylor SL, Buys CHCM, An evolutionary rearrangement of the Xp11.3-11.23 region in 3p21.3, a region frequently deleted in a variety of cancers. Genomics, 60, 238-240 (1999)
184.Timmer T, Terpstra P, van den Berg A, Veldhuis PMJF, ter Elst A, Voutsinas G, Hulsbeek MMF, Draaijers TG, Looman MWG, Kok K, Naylor SL, Buys CHCM, A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3. Eur J Hum Genet 7, 478-486 (1999)
185.Verheij JBGM, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RMW, Buys CHCM, van Essen AJ, Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. Am J of Med Genet 86, 168-173 (1999)
186.Wu Y, Stulp RP, Elfferich P, Osinga J, Buys CHCM, Hofstra RMW, Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. Nucleic Acids Res, 27, e9-11 (1999)
187.Wu Y, Berends MJW, Mensink RGJ, Kempinga C, Sijmons RH, van der Zee AGJ, Hollema H, Kleibeuker JH, Buys CHCM, Hofstra RMW, Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations, Am J Hum Genet 65, 1291-1298 (1999)
2000
188.Bleeker WA, Hayes VM, Karrenbeld A, Hofstra RM, Hermans J, Buys CH, Plukker JT. Impact of KRAS and TP53 mutations on survival in patients with left- and right-sided Dukes‘ C colon cancer. Am J Gastroenterol 95, 2953-2957 (2000)
189 .Bolk S, Pelet A, Hofstra RMW, Angrist M, Salomon R, Croaker D, Buys CHCM, Lyonnet S, Chakravarti A, A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and an new 9q31 locus. Proc Natl Acad Sci USA, 97, 268-273 (2000)
190.Buys CHCM, Clinical Implications of Basic Research: Telomeres, Telomerase and Cancer. N Engl J Med, 342, 1282-1283 (2000)
191.Hayes VM, Westra JL, Verlind E, Bleeker W, Plukker JT, Hofstra RMW, Buys CHCM Buys, New Comprehensive Denaturing-Gradient-Gel-Electrophoresis Assay for KRAS Mutation Detection Applied to Paraffin-Embedded Tumours, Genes Chrom Cancer, 29, 309-314 (2000)
192.Hofstra RMW, Wu Y, Stulp RP, Osinga J, Elfferich P, Maas S, Siderius L, Brooks AS, vd Ende JJ, Heydendael VMR, Severijnen RSVM, Bax KMA,
Meijers C, Buys CHCM, RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. Human Mutation, 15, 418-429 (2000)
193.Hut PHL, van der Vlies P, Shimizu H, Jonkman MF, Buys CHCM, Scheffer H, Exempting homologous pseudogene sequences from PCR amplification allows genomic keratin 14 hotspot mutation analysis. J Invest Dermatol, 114, 616-619 (2000)
194.Kenny SE, Hofstra RMW, Buys CHCM, Vaillant CR, Lloyd DA, Edgar DH: Reduced endothelin-3 in sporadic Hirschsprung’s disease. Brit J of Surg, 87, 580-585 (2000)
195.Kok K, Draaijers TT, Mosselaar A, de Jong D, Buys CHCM, Inclusion of new microsatellite repeats in allelic loss analysis excludes retention of heterozygosity in the renal cell cancer critical region in 3p21. Cancer Genet Cytogenet, 116, 40-43 (2000)
196.McLaughlin PMJ, Helfrich W, Kok K, Mulder M, Hu SW, Brinker MGL, Ruiters MHJ, de Leij LFMH de, Buys CHCM, The ubiquitin-activating enzyme E1-like protein in lung cancer cell lines.Int J Cancer 85, 871-876 (2000)
197.Rake JP, ten Berge AM, Verlind E, Visser G, Niezen-Koning KE, Buys CHCM, Smit GPA, Scheffer H, Identification of a novel mutation (867delA) in the glucose-6- phosphatase gene in two siblings with glycogen storage disease Ia with different phenotypes. Human Mutat, 15, 381e (on line) (2000)
198.Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CHCM, Smit GPA, Scheffer H, Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart. Eur J Pediatr 159, 322-30 (2000)
199.Scheffer H, Cobben JM, Mensink RGJ, Stulp RP, van der Steege G, Buys CHCM, SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur J Hum Genet, 8, 79-86 (2000)
200.Scheffer H, van der Vlies P, Burton M, Verlind E, Moll AC, Imhof SM, Buys CHCM, Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense. J Med Genet 37, E6 (on line) (2000)
201.Sijmons R, Hofstra R, Hollema H, Mensink R, van der Hout A, Hoekstra H, Kleibeuker J, Molenaar W, Wijnen J, Fodde R, Vasen H, Buys C.
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer.
Genes Chrom Cancer 29, 353-355 (2000)
202.Van Wyk R, Slezak P, Hayes VM, Buys CHCM, Kotze MJ, de Jong G, Rubio C, Dolk A, Jaramillo E, Koizumi K, Grobbelaar JJ, Somatic mutations of the APC, KRAS, and TP53 genes in nonpolypoid colorectal adenomas. Genes Chromos Cancer 27, 202-208 (2000)
2001
203.Berends MJW, Hollema H, Wu Y, van der Sluis T, Mensink RGJ, ten Hoor KA, Sijmons RH, de Vries EGE,Pras E, Mourits MJE, Hofstra RWM, Buys CHCM, Kleibeuker JH, van der Zee AGJ, MLH1 ans MSH2 protein expression as a pre-screening marker in hereditary and non-hereditary endometrial hyperplasia and cancer. Int. J Cancer 92, 398-403 (2001)
204 . Berends MJW, Wu Y, Sijmons RH, Hofstra RMW, van der Zee AGJ, Buys CHCM, Kleibeuker JH, Clinical definition of hereditary non-polyposis colorectal cancer: a search for the impossible? Scand J Gastroenterol Suppl. 234, 61-67
(2001)
205.Bleeker WA, Hayes VM, Karrenbeld A, Hofstra RM, Verlind E, Hermans J, Poppema S, Buys CH, Plukker JT, Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer. Dis Colon Rectum 44, 358-363 (2001)
206.Boon M, Nolte IM, Bruinenberg M, Spijker GT, Terpstra P, Raelson J, de Keyser J, Zwanikken CP, Hulsbeek M, Hofstra RMW, Buys CHCM, te Meerman GJ, Mapping of a susceptibility gene for multiple sclerosis to the 51 kb interval between G511525 and D6S1666 using a new method of haplotype sharing analysis. Neurogenetics 3, 221-230 (2001)
207.Carvalho B, van der Veen AY, Gartner F, Carneiro F, Seruca R, Buys CHCM, Kok K, Allelic gains and losses in distinct regions of chromosome 6 in gastric carcinoma. Cancer Genet Cytogenet 131, 54-59 (2001)
208.McLaughlin PMJ, Harmsen MC, Dokter WHA, Kroesen B-J, van der Molen H, Brinker MGL, Hollema H, Ruiters MHJ, Buys CHCM, de Leij LFMH, The epithelial glycoprotein 2 (EGP-2) promoter-driven epithelial-specific expression of EGP-2 in transgenic mice. Cancer Research 61, 4105-4111 (2001)
209.Schuringa JJ, Wojtachnio K, Hagens W, Vellenga E, Buys CH, Hofstra R, Kruijer W, MEN2A-RET-induced cellular transformation by activation of STAT3. Oncogene 20, 5350-5358 (2001)
210. Van der Steege G, Schuilenga-Hut PH, Buys CH, Scheffer H, Pas HH, Jonkman MF, Persistent failures in gene-repair. Nat Biotechnol 19, 305-306 (2001)
211.Wu Y, Berends MJ, Post JG, Mensink RG, Verlind E, van der Sluis T, Kempinga C, Sijmons RH, van der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM, Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 120, 1580-1587 (2001)
212.Wu Y, Berends MJW, Sijmons RH, Mensink RGJ, Verlind E, Kooi KA, van der Sluis T , Kempinga C , van der Zee AGJ, Hollema H, Buys CHCM, Kleibeuker JH, Hofstra RMW, A role of MLH3 in hereditary nonpolyposis colorectal cancer. Nature Genetics 29, 137-138 (2001)
2002
213.Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM, deVries EG, Hollema H, Karrenbeld A, Buys CHCM, van der Zee AG, Hofstra RMW, Kleibeuker JH, Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Human Genetics 70, 26-37 (2002)
214.Bolk Gabriel S, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A, Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genetics 31, 89-93 (2002)
215.Carvalho B, Seruca R, Buys CHCM, Kok K, Novel expressed sequences obtained by means of a suppression subtractive hybridisation analysis from the 6q21 region that is frequently deleted in gastric cancer. Eur J Cancer 38, 1126-1132 (2002)
216.Hofstra RMW, Elfferich P, Osinga J, Verlind E, Fransen E, Lopez Pison J, Die-Smulders de CE, Stolte-Dijkstra I, Buys CHCM, Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? J Med Genet 39, E11 (2002)
218.Schuilenga-Hut PHL, Scheffer H, Pas HH, Nijenhuis M, Buys CHCM, Jonkman MF, Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullososa simplex. J Invest Dermatol 118, 626-630 (2002)
217.Sikkema-Raddatz B, van Echten J, van der VlagJ, Buys CHCM, te MeermanGJ, Minimal volume of amniotic fluid for reliable prenatal cytogenetic diagnosis. Prenat Diagn 22, 164-165 (2002)
219.Van der Hout AH, Verlind E, Beemer FA, Buys CHCM, Hofstra RMW, Scheffer H, Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Hum Mutat 20, 236 (2002)
2003
220. Berends MJ, Wy Y, Sijmons RH, Sluis T van der, Ek WB, Ligtenberg MJ, Arts NJ, Hoor KA ten, Kleibeuker JH, Vries EG de, Mourits MJ, Hollema H, Buys CHCM, Hofstra RMW, Zee AGJ van der, Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J Clin Oncol 21, 4364-70 (2003)
221. Schuilenga-Hut PHL, van der Vlies P, Jonkman MF, Waanders E, Buys CHCM, Scheffer H, Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutation #595 online, 8pp (2003)
222. Van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CHCM, Hofstra RMW, den Dunnen JT. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet, 118a, 296-298 (2003)
223. Van Everdink WJ, Baranova A, Lummen C, Tyazhelova T, Looman MWG, Ivanov D, Verlind E, Pestova A, Faber H, van der Veen AY, Yankovsky N, Vellenga E, Buys CHCM. RFP2, c13ORF1 AND FAM10A4 are the most likely tumour suppressor gene candidates for B-cell chronic lymphocytic leukaemia. Cancer Genet Cytogenet 146, 48-57 (2003)
2004
224. Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CHCM, Hofstra RMW, Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. Eur J Hum Genet 12, 604-612 (2004)
225. Boon M, Nolte IM, De Keyser J, Buys CHCM, Meerman GJ te, Inheritance mode of multiple sclerosis: the effect of HLA class II alleles is stronger than additive. Hum Genet 115, 280-284 (2004)
226. Hofstra RMW, Mulder IM, Vossen R, de Koning-Gans PAM, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CHCM, van Ommen G-JB, van Essen AJ, den Dunnen JT, Whole gene DGGE-based mutation scanning of the dystrophin gene in DMD/BMD patients. Hum Mutation 23, 57-66 (2004)
227. Westra JL, Plukker JT, Buys CHCM, Hofstra RMW, Genetic alterations in locally advanced stage II/III colon cancer: a search for prognostic markers. Clin Colorectal Cancer 4, 252-259 (2004)
2005
228. Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JBGM, Buys CHCM, Hofstra RWW, Identifying candidate Hirschprung disease-associated RET variants. Am J Hum Genet 76, 850-858 (2005)
229. Kok K, Dijkhuizen T, Swart YE, Zorgdrager H, van der Vlies P, Fehrmann R, Te Meerman GJ, Gerssen-Schoorl KBJ, van Essen T, Sikkema-Raddatz B, Buys CHCM, Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation. Eur J Med Genet 48, 250-262 (2005)
230. Plaza Menacho I, Koster R, van der Sloot AM, Quax WJ, Osinga J, van der Sluis T, Hollema H, Burzynski GM, Gimm O, Buys CHCM, Eggen BJL, Hofstra RMW, RET-Familial Medullary Thyroid Carcinoma Mutants Y791F and S891A Activate a Src/JAK/STAT3 Pathway, Independent of Glial Cell Line-Derived Neurotrophic Factor. Cancer Research 65, 1729-1737 (2005)
231. Westra JL, Boven LG, van der Vlies P, Faber H, Sikkema B, Schaapveld M, Dijkhuizen T, Hollema H, Buys CHCM, Plukker JTM, Kok K, Hofstra RMW, A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal Iistability. Genes Chromos Cancer 43,194-201 (2005)
232. Westra JL, Hollema H, Schaapveld M, Platteel I, Oien KA, Keith WN,Mauritz R, Peters GJ, Buys CHCM, Hofstra RMW, Plukker JThM, Predictive value of thymidylate synthase and dihydropyrimidine dehydrogenase protein expression on survival in adjuvantly treated stage III colon cancer patiens. Ann Oncol 16, 1646-1653 (2005)
233. Westra JL, Schaapveld M, Hollema H, de Boer JP, Kraak MM, de Jong D, ter Elst A, Mulder NH, Buys CHCM, Hofstra RMW, Plukker JT, Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients. J Clin Oncol 23, 5635-5643 (2005)
2006
234. Angeloni D, ter Elst A, Hui Wei M, van der Veen AY, Braga EA, Klimov EA, Timmer T, Korobeinikova L, Lerman MI, Buys CHCM, Analysis of a new homozygous deletion in the tumor suppressor region at 3p12.3 reveals two novel intronic non-coding RNA genes. Genes Choromos Cancer 45, 676-691 (2006)
235. Dijkhuizen T, Essen T, van der Vlies P, Verheij JBGM, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KBJ, Buys CHCM, Kok K, FISH ans Array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Am J Med Genet A 140, 2482-2487 (2006)
236. Niessen RC, Berends MJW, Wu Y, Sijmons RH, Hollema H, Ligtenberg MJL, de Walle HEK, Vries EGE, Karrenbeld A, Buys CHCM, van der Zee AG, Hofstra RWM. Kleibeuker JG, Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer. Gut, 1781-1788 (2006)
237. Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CHCM, Kleibeuker JH, Hofstra RMW, MUTYH and the mismatch repair system: partners in crime? Hum Genet 119, 206-211 (2006)
238. Sikkema-Raddatz B, Suijkerbuijk R, Bouman K, de Jong B, Buys CHCM, Te Meerman GJ, Quality aspects of prenatal cytogenetic diagnosis: determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis. PrenatDiagn (2006)
239. Sikkema-Raddatz B, Suijkerbuijk R, van der Vlag, Stoepker M, Buys CHCM, Te Meerman GJ, An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures. Prenat Diagn (2006)
240. Ter Elst A, Hiemstra BE, van der Vlies P, Kamminga W, van der Veen AY, Davelaar I, Terpstra P, Te Meerman GJ, Gerbens F, Kok K, Buys CHCM, Functional analysis of lung tumor suppressor activity at 3p21.3. Genes Chromos Cancer 45, 1077-1093 (2006)
2007
241. Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar JC, Verhoeve HR, Vogel NEA, ArtsEGJM, de Vries JW, Bossuyt PM, Buys CHCM, Heineman MJ, Repping S, van der Veen F,In vitro fertilization with preimplantation genetic screening. N Engl J Med 357, 9-17 (2007)
242. Plaza-Menacho I, van der Sluis T, Hollema H, Gimm O, Buys CHCM, Magee AI, Isacke CM, Hofstra RMW, Eggen BJ, Ras/ERK1/2-mediated STAT3 and is required for c-fos promoter activation, cell mitogenicity, and transformation. J Biol Chem 282, 6415-6424 (2007)
243. van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJH, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CHCM, Hofstra RMW, Pinto YM, Severe myocardial fibrosis caused by a deletion of the 5’ end of the lamin A/C gene. J Am Coll Cardiol 49, 2430-2439 (2007)
2010
244. Bakker MK, Kerstjens-Frederikse WS, Buys CH, de Walle HE, de Jong-van den Berg LT. First-trimester use of paroxetine and congenital heart defects: a population-based case-control study. Birth Defects Res A Clin Mol Teratol. 2010;88(2):94-100. doi: 10.1002/bdra.20641.
| Last modified: | 12 December 2013 3.02 p.m. |