{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T01:39:13Z","timestamp":1775093953868,"version":"3.50.1"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetric distribution. The risk of malignant transformation towards central chondrosarcoma (CS) is increased up to 35%. The aetiology of Ollier disease is unknown.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We undertook genome-wide copy number and loss of heterozygosity (LOH) analysis using Affymetrix SNP 6.0 array on 37 tumours of 28 Ollier patients in combination with expression array using Illumina BeadArray v3.0 for 7 ECs of 6 patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Non-recurrent EC specific copy number alterations were found at <jats:italic>FAM86D, PRKG1<\/jats:italic> and <jats:italic>ANKS1B.<\/jats:italic> LOH with copy number loss of chromosome 6 was found in two ECs from two unrelated Ollier patients. One of these patients also had LOH at chromosome 3. However, no common genomic alterations were found for all ECs. Using an integration approach of SNP and expression array we identified loss as well as down regulation of <jats:italic>POU5F1<\/jats:italic> and gain as well as up regulation of <jats:italic>NIPBL<\/jats:italic>. None of these candidate regions were affected in more than two Ollier patients suggesting these changes to be random secondary events in EC development. An increased number of genetic alterations and LOH were found in Ollier CS which mainly involves chromosomes 9p, 6q, 5q and 3p.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>We present the first genome-wide analysis of the largest international series of Ollier ECs and CS reported so far and demonstrate that copy number alterations and LOH are rare and non-recurrent in Ollier ECs while secondary CS are genetically unstable. One could predict that instead small deletions, point mutations or epigenetic mechanisms play a role in the origin of ECs of Ollier disease.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-6-2","type":"journal-article","created":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T11:11:26Z","timestamp":1295435486000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Genome-wide analysis of Ollier disease: Is it all in the genes?"],"prefix":"10.1186","volume":"6","author":[{"given":"Twinkal C","family":"Pansuriya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Oosting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tibor","family":"Kren\u00e1cs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonie HM","family":"Taminiau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzan HM","family":"Verdegaal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Sangiorgi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raf","family":"Sciot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pancras CW","family":"Hogendoorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karoly","family":"Szuhai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith VMG","family":"Bov\u00e9e","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,1,14]]},"reference":[{"key":"265_CR1","first-page":"237","volume-title":"World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone","author":"DR Lucas","year":"2002","unstructured":"Lucas DR, Bridge JA: Chondromas: enchondroma, periosteal chondroma, and enchondromatosis. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by: Fletcher CDM, Unni KK, Mertens F. Lyon: IARC Press; 2002:237-240."},{"key":"265_CR2","first-page":"557","volume":"3","author":"T Pansuriya","year":"2010","unstructured":"Pansuriya T, Kroon HM, Bov\u00e9e JVMG: Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010, 3: 557-569.","journal-title":"Int J Clin Exp Pathol"},{"key":"265_CR3","first-page":"356","volume-title":"World Health Organization Classification of Tumours. Pathology and genetics of tumours of soft tissue and bone","author":"F Mertens","year":"2002","unstructured":"Mertens F, Unni KK: Enchondromatosis: Ollier disease and Maffucci syndrome. World Health Organization Classification of Tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by: Fletcher CDM, Unni KK, Mertens F. Lyon: IARC Press; 2002:356-357."},{"key":"265_CR4","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1038\/nrc2869","volume":"10","author":"JVMG Bov\u00e9e","year":"2010","unstructured":"Bov\u00e9e JVMG, Hogendoorn PCW, Wunder JS, Alman BA: Cartilage tumours and bone development: molecular pathology and possible therapeutic targets. Nat Rev Cancer. 2010, 10: 481-488.","journal-title":"Nat Rev Cancer"},{"key":"265_CR5","first-page":"234","volume-title":"World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone","author":"J Khurana","year":"2002","unstructured":"Khurana J, Abdul-Karim F, Bov\u00e9e JVMG: Osteochondroma. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. Edited by: Fletcher CDM, Unni KK, Mertens F. Lyon (France): IARC Press; 2002:234-236."},{"key":"265_CR6","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1038\/ng844","volume":"30","author":"S Hopyan","year":"2002","unstructured":"Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, et al: A mutant PTH\/PTHrP type I receptor in enchondromatosis. Nat Genet. 2002, 30: 306-310. 10.1038\/ng844.","journal-title":"Nat Genet"},{"key":"265_CR7","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1093\/hmg\/ddn176","volume":"17","author":"A Couvineau","year":"2008","unstructured":"Couvineau A, Wouters V, Bertrand G, Rouyer C, Gerard B, Boon LM, Grandchamp B, Vikkula M, Silve C: PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet. 2008, 17: 2766-2775. 10.1093\/hmg\/ddn176.","journal-title":"Hum Mol Genet"},{"key":"265_CR8","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1002\/humu.20095","volume":"24","author":"LB Rozeman","year":"2004","unstructured":"Rozeman LB, Sangiorgi L, Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PCW, Bov\u00e9e JVMG: Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat. 2004, 24: 466-473. 10.1002\/humu.20095.","journal-title":"Hum Mutat"},{"key":"265_CR9","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1186\/1750-1172-1-37","volume":"1","author":"C Silve","year":"2006","unstructured":"Silve C, Juppner H: Ollier disease. Orphanet J Rare Dis. 2006, 1: 37. 10.1186\/1750-1172-1-37.","journal-title":"Orphanet J Rare Dis"},{"key":"265_CR10","first-page":"357","volume-title":"World Health Organization Classification of Tumours. Pathology & Genetics. Tumours of Soft Tissue and Bone","author":"MM Cohen Jr","year":"2002","unstructured":"Cohen MM, Siegal GP: McCune-Albright syndrome. World Health Organization Classification of Tumours. Pathology & Genetics. Tumours of Soft Tissue and Bone. Edited by: Fletcher CDM, Unni KK, Mertens F. Lyon: IARC Press; 2002:357-359."},{"key":"265_CR11","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1038\/79269","volume":"18","author":"K Lindblad-Toh","year":"2000","unstructured":"Lindblad-Toh K, Tanenbaum DM, Daly MJ, Winchester E, Lui WO, Villapakkam A, Stanton SE, Larsson C, Hudson TJ, Johnson BE, et al: Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol. 2000, 18: 1001-1005. 10.1038\/79269.","journal-title":"Nat Biotechnol"},{"key":"265_CR12","doi-asserted-by":"publisher","first-page":"3060","DOI":"10.1158\/0008-5472.CAN-03-3308","volume":"64","author":"X Zhao","year":"2004","unstructured":"Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, et al: An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res. 2004, 64: 3060-3071. 10.1158\/0008-5472.CAN-03-3308.","journal-title":"Cancer Res"},{"key":"265_CR13","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1002\/1097-0142(197708)40:2<818::AID-CNCR2820400234>3.0.CO;2-B","volume":"40","author":"HL Evans","year":"1977","unstructured":"Evans HL, Ayala AG, Romsdahl MM: Prognostic factors in chondrosarcoma of bone. A clinicopathologic analysis with emphasis on histologic grading. Cancer. 1977, 40: 818-831. 10.1002\/1097-0142(197708)40:2<818::AID-CNCR2820400234>3.0.CO;2-B.","journal-title":"Cancer"},{"key":"265_CR14","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1086\/302532","volume":"65","author":"JVMG Bov\u00e9e","year":"1999","unstructured":"Bov\u00e9e JVMG, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AHM, Bakker E, Van HW, Cornelisse CJ, Hogendoorn PCW: EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet. 1999, 65: 689-698.","journal-title":"Am J Hum Genet"},{"key":"265_CR15","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16: 1215. 10.1093\/nar\/16.3.1215.","journal-title":"Nucleic Acids Res"},{"key":"265_CR16","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1136\/jcp.54.10.778","volume":"54","author":"HJ Baelde","year":"2001","unstructured":"Baelde HJ, Cleton-Jansen AM, van Beerendonk H, Namba M, Bov\u00e9e JVMG, Hogendoorn PCW: High quality RNA isolation from tumours with low cellularity and high extracellular matrix component for cDNA microarrays: application to chondrosarcoma. J Clin Pathol. 2001, 54: 778-782.","journal-title":"J Clin Pathol"},{"key":"265_CR17","doi-asserted-by":"publisher","first-page":"R63","DOI":"10.1186\/gb-2008-9-4-r63","volume":"9","author":"S Lin","year":"2008","unstructured":"Lin S, Carvalho B, Cutler DJ, Arking DE, Chakravarti A, Irizarry RA: Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol. 2008, 9: R63. 10.1186\/gb-2008-9-4-r63.","journal-title":"Genome Biol"},{"key":"265_CR18","doi-asserted-by":"publisher","first-page":"2149","DOI":"10.1093\/bioinformatics\/btp371","volume":"25","author":"H Bengtsson","year":"2009","unstructured":"Bengtsson H, Wirapati P, Speed TP: A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6. Bioinformatics. 2009, 25: 2149-2156. 10.1093\/bioinformatics\/btp371.","journal-title":"Bioinformatics"},{"key":"265_CR19","doi-asserted-by":"publisher","first-page":"10333","DOI":"10.1158\/0008-5472.CAN-08-2665","volume":"68","author":"WE Corver","year":"2008","unstructured":"Corver WE, Middeldorp A, Ter Haar NT, Jordanova ES, van PM, van ER, Cornelisse CJ, Fleuren GJ, Morreau H, Oosting J, et al: Genome-wide allelic state analysis on flow-sorted tumor fractions provides an accurate measure of chromosomal aberrations. Cancer Res. 2008, 68: 10333-10340. 10.1158\/0008-5472.CAN-08-2665.","journal-title":"Cancer Res"},{"key":"265_CR20","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1093\/carcin\/bgl086","volume":"28","author":"CL Andersen","year":"2007","unstructured":"Andersen CL, Wiuf C, Kruhoffer M, Korsgaard M, Laurberg S, Orntoft TF: Frequent occurrence of uniparental disomy in colorectal cancer. Carcinogenesis. 2007, 28: 38-48. 10.1093\/carcin\/bgl086.","journal-title":"Carcinogenesis"},{"key":"265_CR21","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1136\/jmg.2008.063685","volume":"46","author":"J Knijnenburg","year":"2009","unstructured":"Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K: A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. J Med Genet. 2009, 46: 412-417. 10.1136\/jmg.2008.063685.","journal-title":"J Med Genet"},{"key":"265_CR22","doi-asserted-by":"publisher","first-page":"e11","DOI":"10.1093\/nar\/gkm1075","volume":"36","author":"SM Lin","year":"2008","unstructured":"Lin SM, Du P, Huber W, Kibbe WA: Model-based variance-stabilizing transformation for Illumina microarray data. Nucleic Acids Res. 2008, 36: e11. 10.1093\/nar\/gkm1075.","journal-title":"Nucleic Acids Res"},{"key":"265_CR23","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1093\/bioinformatics\/btm311","volume":"23","author":"MJ Dunning","year":"2007","unstructured":"Dunning MJ, Smith ML, Ritchie ME, Tavare S: beadarray: R classes and methods for Illumina bead-based data. Bioinformatics. 2007, 23: 2183-2184. 10.1093\/bioinformatics\/btm311.","journal-title":"Bioinformatics"},{"key":"265_CR24","volume-title":"Stat Appl Genet Mol Biol","author":"GK Smyth","year":"2004","unstructured":"Smyth GK: Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol. 2004, 3, Article3."},{"key":"265_CR25","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1038\/sj.ki.5002101","volume":"71","author":"HJ Baelde","year":"2007","unstructured":"Baelde HJ, Eikmans M, Lappin DW, Doran PP, Hohenadel D, Brinkkoetter PT, Van der Woude FJ, Waldherr R, Rabelink TJ, De HE, et al: Reduction of VEGF-A and CTGF expression in diabetic nephropathy is associated with podocyte loss. Kidney Int. 2007, 71: 637-645. 10.1038\/sj.ki.5002101.","journal-title":"Kidney Int"},{"key":"265_CR26","doi-asserted-by":"publisher","first-page":"research0034.1","DOI":"10.1186\/gb-2002-3-7-research0034","volume":"3","author":"J Vandesompele","year":"2002","unstructured":"Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F: Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 2002, 3: research0034.1-0034.11. 10.1186\/gb-2002-3-7-research0034.","journal-title":"Genome Biol"},{"key":"265_CR27","doi-asserted-by":"publisher","first-page":"1925","DOI":"10.1038\/labinvest.3780202","volume":"80","author":"JVMG Bov\u00e9e","year":"2000","unstructured":"Bov\u00e9e JVMG, Van den Broek LJCM, Cleton-Jansen AM, Hogendoorn PCW: Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma. Lab Invest. 2000, 80: 1925-1933.","journal-title":"Lab Invest"},{"key":"265_CR28","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1038\/ng.238","volume":"40","author":"SA McCarroll","year":"2008","unstructured":"McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al: Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet. 2008, 40: 1166-1174. 10.1038\/ng.238.","journal-title":"Nat Genet"},{"key":"265_CR29","doi-asserted-by":"publisher","first-page":"S37","DOI":"10.1038\/ng2080","volume":"39","author":"SA McCarroll","year":"2007","unstructured":"McCarroll SA, Altshuler DM: Copy-number variation and association studies of human disease. Nat Genet. 2007, 39: S37-S42. 10.1038\/ng2080.","journal-title":"Nat Genet"},{"key":"265_CR30","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1002\/cncr.22001","volume":"107","author":"LB Rozeman","year":"2006","unstructured":"Rozeman LB, Szuhai K, Schrage YM, Rosenberg C, Tanke HJ, Taminiau AHM, Cleton-Jansen AM, Bov\u00e9e JVMG, Hogendoorn PCW: Array-comparative genomic hybridization of central chondrosarcoma - Identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations. Cancer. 2006, 107: 380-388. 10.1002\/cncr.22001.","journal-title":"Cancer"},{"key":"265_CR31","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1038\/nature08768","volume":"463","author":"GR Bignell","year":"2010","unstructured":"Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S, Andrews JM, Buck G, Chen L, Beare D, Latimer C, et al: Signatures of mutation and selection in the cancer genome. Nature. 2010, 463: 893-898. 10.1038\/nature08768.","journal-title":"Nature"},{"key":"265_CR32","volume-title":"Essential Immunology","author":"MIvan Roitt","year":"1988","unstructured":"Roitt MIvan: Essential Immunology. Blackwell Scientific Publications; 1988."},{"key":"265_CR33","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1038\/sj.ijo.0802973","volume":"29","author":"SO Zakharkin","year":"2005","unstructured":"Zakharkin SO, Belay AT, Fernandez JR, De LV, Kennedy JL, Sokolowski MB, Allison DB: Lack of association between polymorphism of the human cyclic GMP-dependent protein kinase gene and obesity. Int J Obes (Lond). 2005, 29: 872-874. 10.1038\/sj.ijo.0802973.","journal-title":"Int J Obes (Lond)"},{"key":"265_CR34","doi-asserted-by":"publisher","first-page":"4920","DOI":"10.1038\/sj.onc.1202874","volume":"18","author":"X Fu","year":"1999","unstructured":"Fu X, McGrath S, Pasillas M, Nakazawa S, Kamps MP: EB-1, a tyrosine kinase signal transduction gene, is transcriptionally activated in the t(1;19) subset of pre-B ALL, which express oncoprotein E2a-Pbx1. Oncogene. 1999, 18: 4920-4929. 10.1038\/sj.onc.1202874.","journal-title":"Oncogene"},{"key":"265_CR35","doi-asserted-by":"publisher","first-page":"3081","DOI":"10.1038\/nprot.2007.418","volume":"2","author":"K Takahashi","year":"2007","unstructured":"Takahashi K, Okita K, Nakagawa M, Yamanaka S: Induction of pluripotent stem cells from fibroblast cultures. Nat Protoc. 2007, 2: 3081-3089. 10.1038\/nprot.2007.418.","journal-title":"Nat Protoc"},{"key":"265_CR36","doi-asserted-by":"publisher","first-page":"e1000991","DOI":"10.1371\/journal.pgen.1000991","volume":"6","author":"NL Sobreira","year":"2010","unstructured":"Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, et al: Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet. 2010, 6: e1000991. 10.1371\/journal.pgen.1000991.","journal-title":"PLoS Genet"},{"key":"265_CR37","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/S0165-4608(98)00027-2","volume":"105","author":"YY Ozisik","year":"1998","unstructured":"Ozisik YY, Meloni AM, Spanier SS, Bush CH, Kingsley KL, Sandberg AA: Deletion 1p in a low-grade chondrosarcoma in a patient with Ollier disease. Cancer Genet Cytogenet. 1998, 105: 128-133. 10.1016\/S0165-4608(98)00027-2.","journal-title":"Cancer Genet Cytogenet"},{"key":"265_CR38","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1053\/hupa.2000.19308","volume":"31","author":"JVMG Bov\u00e9e","year":"2000","unstructured":"Bov\u00e9e JVMG, van Roggen JF, Cleton-Jansen AM, Taminiau AH, Van der Woude HJ, Hogendoorn PCW: Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study. Hum Pathol. 2000, 31: 1299-1303.","journal-title":"Hum Pathol"},{"key":"265_CR39","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1016\/S1470-2045(05)70282-5","volume":"6","author":"JVMG Bov\u00e9e","year":"2005","unstructured":"Bov\u00e9e JVMG, Cleton-Jansen AM, Taminiau AHM, Hogendoorn PCW: Emerging pathways in the development of chondrosarcoma of bone and implications for targeted treatment. Lancet Oncology. 2005, 6: 599-607.","journal-title":"Lancet Oncology"},{"key":"265_CR40","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nature06866","volume":"453","author":"CG Mullighan","year":"2008","unstructured":"Mullighan CG, Miller CB, Radtke I, Phillips LA, Dalton J, Ma J, White D, Hughes TP, Le Beau MM, Pui CH, et al: BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature. 2008, 453: 110-114. 10.1038\/nature06866.","journal-title":"Nature"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-6-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T06:39:22Z","timestamp":1630478362000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-6-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,14]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["265"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-6-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,14]]},"assertion":[{"value":"6 September 2010","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 January 2011","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 January 2011","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"2"}}