{"id":"https://openalex.org/W2267101031","doi":"https://doi.org/10.7499/j.issn.1008-8830.2016.01.008","title":"[Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification].","display_name":"[Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification].","publication_year":2016,"publication_date":"2016-01-01","ids":{"openalex":"https://openalex.org/W2267101031","doi":"https://doi.org/10.7499/j.issn.1008-8830.2016.01.008","mag":"2267101031","pmid":"https://pubmed.ncbi.nlm.nih.gov/26781410","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7390102"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:7390102","doi":"https://doi.org/10.7499/j.issn.1008-8830.2016.01.008","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7390102","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhongguo Dang Dai Er Ke Za Zhi","raw_type":"Text"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7390102","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100425554","display_name":"Li Zhang","orcid":"https://orcid.org/0000-0002-3617-2627","observed_orcids":["https://orcid.org/0000-0002-3617-2627","https://orcid.org/0000-0003-2756-2620","https://orcid.org/0009-0001-8129-4308"]},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I4210147887","display_name":"Institute of Hematology & Blood Diseases Hospital","ror":"https://ror.org/04n16t016","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210147887"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Li Zhang","raw_affiliation_strings":["Department of Pediatrics, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China. xfzhu1981@126.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China. xfzhu1981@126.com","institution_ids":["https://openalex.org/I200296433","https://openalex.org/I4210147887"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100409024","display_name":"Xiaoming Liu","orcid":"https://orcid.org/0000-0001-8285-5528","observed_orcids":["https://orcid.org/0000-0001-8285-5528","https://orcid.org/0000-0002-7062-2468"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-Ming Liu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026009881","display_name":"Ye Guo","orcid":"https://orcid.org/0000-0002-1813-9815","observed_orcids":["https://orcid.org/0000-0002-1813-9815"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ye Guo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Wen-Yu Yang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wen-Yu Yang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037305614","display_name":"Jiayuan Zhang","orcid":"https://orcid.org/0000-0001-7308-846X","observed_orcids":["https://orcid.org/0000-0001-7308-846X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jia-Yuan Zhang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Fang Liu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fang Liu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048579973","display_name":"Tian\u2010Feng Liu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tian-Feng Liu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102955835","display_name":"Shuchun Wang","orcid":"https://orcid.org/0009-0003-8797-3568","observed_orcids":["https://orcid.org/0009-0003-8797-3568"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shu-Chun Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100678467","display_name":"Xiaojuan Chen","orcid":"https://orcid.org/0000-0001-7330-0993","observed_orcids":["https://orcid.org/0000-0001-7330-0993","https://orcid.org/0009-0008-8604-4202"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-Juan Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082440485","display_name":"Min Ruan","orcid":"https://orcid.org/0000-0001-7253-0324","observed_orcids":["https://orcid.org/0000-0001-7253-0324"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Min Ruan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042548618","display_name":"Ben-Quan Qi","orcid":"https://orcid.org/0009-0006-3154-0087","observed_orcids":["https://orcid.org/0009-0006-3154-0087"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ben-Quan Qi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110782545","display_name":"Lixian Chang","orcid":"https://orcid.org/0000-0002-9848-1687","observed_orcids":["https://orcid.org/0000-0002-9848-1687"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Li-Xian Chang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103247821","display_name":"Yao Zou","orcid":"https://orcid.org/0000-0003-1418-7331","observed_orcids":["https://orcid.org/0000-0003-1418-7331"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yao Zou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101777167","display_name":"Yumei Chen","orcid":"https://orcid.org/0000-0002-0241-7577","observed_orcids":["https://orcid.org/0000-0002-0241-7577"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yu-Mei Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5020924929","display_name":"Xiaofan Zhu","orcid":"https://orcid.org/0000-0002-2572-6495","observed_orcids":["https://orcid.org/0000-0002-2572-6495"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiao-Fan Zhu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00818478,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"18","issue":"1","first_page":"34","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.9765999913215637,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.9765999913215637,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.02239999920129776,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.9139999747276306},{"id":"https://openalex.org/keywords/childhood-acute-lymphoblastic-leukemia","display_name":"childhood acute lymphoblastic leukemia","score":0.9279999732971191},{"id":"https://openalex.org/keywords/multiplex-ligation-dependent-probe-amplification","display_name":"multiplex ligation-dependent probe amplification","score":0.9789999723434448},{"id":"https://openalex.org/keywords/ebf1","display_name":"EBF1","score":0.75},{"id":"https://openalex.org/keywords/cdkn2a-2b","display_name":"CDKN2A/2B","score":0.9549999833106995},{"id":"https://openalex.org/keywords/pax5","display_name":"PAX5","score":0.9959999918937683},{"id":"https://openalex.org/keywords/rb1","display_name":"RB1","score":0.9710000157356262},{"id":"https://openalex.org/keywords/btg1","display_name":"BTG1","score":0.9890000224113464},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.6949999928474426},{"id":"https://openalex.org/keywords/fluorescence-in-situ-hybridization","display_name":"fluorescence in situ hybridization","score":0.9070000052452087}],"concepts":[{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.9726467132568359},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7212854027748108},{"id":"https://openalex.org/C2780833115","wikidata":"https://www.wikidata.org/wiki/Q14914527","display_name":"ETV6","level":4,"score":0.6157158017158508},{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.5357723832130432},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4870169758796692},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.4828560948371887},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4217848777770996},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41692090034484863},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33346614241600037},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3205071985721588},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2214164435863495},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18379998207092285},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.1279318928718567},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.07502326369285583},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000097764","descriptor_name":"ETS Translocation Variant 6 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015514","descriptor_name":"Oncogene Proteins, Fusion","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050676","descriptor_name":"Core Binding Factor Alpha 2 Subunit","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D054198","descriptor_name":"Precursor Cell Lymphoblastic Leukemia-Lymphoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D060885","descriptor_name":"Multiplex Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:7390102","doi":"https://doi.org/10.7499/j.issn.1008-8830.2016.01.008","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7390102","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhongguo Dang Dai Er Ke Za Zhi","raw_type":"Text"},{"id":"pmid:26781410","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26781410","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics","raw_type":"English Abstract"},{"id":"mag:2267101031","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26781410","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:7390102","doi":"https://doi.org/10.7499/j.issn.1008-8830.2016.01.008","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7390102","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhongguo Dang Dai Er Ke Za Zhi","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.800000011920929,"id":"https://metadata.un.org/sdg/14","display_name":"Life below water"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1821861427","https://openalex.org/W1984065010","https://openalex.org/W1990013137","https://openalex.org/W2021428141","https://openalex.org/W2049057690","https://openalex.org/W2062661073","https://openalex.org/W2078307731","https://openalex.org/W2096025154","https://openalex.org/W2111606093","https://openalex.org/W2113926943","https://openalex.org/W2125267543","https://openalex.org/W2130447551","https://openalex.org/W2273763822"],"related_works":["https://openalex.org/W2338190407","https://openalex.org/W2337918296","https://openalex.org/W2049057690","https://openalex.org/W2970521766","https://openalex.org/W2315722052","https://openalex.org/W3041027715","https://openalex.org/W2106165174","https://openalex.org/W2979440429","https://openalex.org/W2726311375","https://openalex.org/W1966679761"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"investigate":[2],"the":[3,12,43,93,120,125,129,147],"application":[4],"of":[5,14,45,51,73,78,96,104,118],"multiplex":[6],"ligation-dependent":[7],"probe":[8],"amplification":[9],"(MLPA)":[10],"in":[11,19,36,89,114,124,149,173],"detection":[13],"copy":[15],"number":[16,95],"variations":[17],"(CNVs)":[18],"pediatric":[20],"ETV6/RUNX1-positive":[21,55,176],"acute":[22],"lymphoblastic":[23],"leukemia":[24],"(ALL),":[25],"to":[26,41,63,170],"compare":[27],"this":[28],"method":[29,169],"with":[30,54,83,131,175],"conventional":[31,140],"karyotype":[32,74,141],"analysis":[33],"and":[34,40,76,92,110,155,167],"fluorescence":[35],"situ":[37],"hybridization":[38],"(FISH),":[39],"evaluate":[42],"value":[44],"MLPA.":[46,84],"METHODS:":[47],"The":[48,102,122,143],"clinical":[49,70],"data":[50],"95":[52],"children":[53,174],"ALL":[56],"who":[57],"were":[58,66,81,87,112,136],"treated":[59],"from":[60],"January":[61],"2006":[62],"November":[64],"2012":[65],"analyzed":[67],"retrospectively,":[68],"including":[69],"features,":[71],"results":[72,77],"analysis,":[75],"FISH.":[79],"CNVs":[80,86,97,103,132,148,172],"detected":[82,88,113,133,138,152,157],"RESULTS:":[85],"73":[90],"(77%),":[91],"median":[94],"was":[98,160],"1":[99],"(range":[100],"0-6).":[101],"EBF1,":[105],"CDKN2A/2B,":[106],"PAX5,":[107],"ETV6,":[108],"RB1,":[109],"BTG1":[111],"more":[115],"than":[116],"10%":[117],"all":[119],"patients.":[121],"changes":[123],"chromosome":[126],"segments":[127],"carrying":[128],"genes":[130],"by":[134,139,153,158],"MLPA":[135,159,163],"not":[137],"analysis.":[142],"coincidence":[144],"rate":[145],"between":[146],"ETV6":[150],"gene":[151],"FISH":[154],"those":[156],"66%.":[161],"CONCLUSIONS:":[162],"is":[164],"an":[165],"efficient":[166],"convenient":[168],"detect":[171],"ALL.":[177]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
