{"id":"https://openalex.org/W2802224646","doi":"https://doi.org/10.1186/s13148-018-0477-0","title":"Epigenetics in Turner syndrome","display_name":"Epigenetics in Turner syndrome","publication_year":2018,"publication_date":"2018-04-06","ids":{"openalex":"https://openalex.org/W2802224646","doi":"https://doi.org/10.1186/s13148-018-0477-0","mag":"2802224646","pmid":"https://pubmed.ncbi.nlm.nih.gov/29636833","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5889574"},"language":"en","primary_location":{"id":"doi:10.1186/s13148-018-0477-0","doi":"https://doi.org/10.1186/s13148-018-0477-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-018-0477-0","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-018-0477-0","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-018-0477-0","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019892740","display_name":"Francisco \u00c1lvarez\u2010Nava","orcid":"https://orcid.org/0000-0002-4673-3643","observed_orcids":["https://orcid.org/0000-0002-4673-3643"]},"institutions":[{"id":"https://openalex.org/I141930428","display_name":"Central University of Ecuador","ror":"https://ror.org/010n0x685","country_code":"EC","type":"education","lineage":["https://openalex.org/I141930428"]}],"countries":["EC"],"is_corresponding":true,"raw_author_name":"Francisco \u00c1lvarez-Nava","raw_affiliation_strings":["1Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito, Ecuador","Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0002-4673-3643","affiliations":[{"raw_affiliation_string":"1Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito, Ecuador","institution_ids":["https://openalex.org/I141930428"]},{"raw_affiliation_string":"Biological Sciences School, Faculty of Biological Sciences, Central University of Ecuador, Quito, Ecuador","institution_ids":["https://openalex.org/I141930428"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015248834","display_name":"Roberto Lanes","orcid":"https://orcid.org/0000-0001-6365-5176","observed_orcids":["https://orcid.org/0000-0001-6365-5176"]},"institutions":[{"id":"https://openalex.org/I4210097386","display_name":"Hospital Cl\u00ednico Universitario de Caracas","ror":"https://ror.org/00vpxhq27","country_code":"VE","type":"healthcare","lineage":["https://openalex.org/I4210097386"]}],"countries":["VE"],"is_corresponding":false,"raw_author_name":"Roberto Lanes","raw_affiliation_strings":["2Pediatric Endocrine Unit, Hospital de Cl\u00ednicas Caracas, Caracas, Venezuela","Pediatric Endocrine Unit, Hospital de Cl\u00ednicas Caracas, Caracas, Venezuela"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Pediatric Endocrine Unit, Hospital de Cl\u00ednicas Caracas, Caracas, Venezuela","institution_ids":["https://openalex.org/I4210097386"]},{"raw_affiliation_string":"Pediatric Endocrine Unit, Hospital de Cl\u00ednicas Caracas, Caracas, Venezuela","institution_ids":["https://openalex.org/I4210097386"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5019892740"],"corresponding_institution_ids":["https://openalex.org/I141930428"],"apc_list":{"value":3890,"currency":"USD","value_usd":3890},"apc_paid":{"value":3890,"currency":"USD","value_usd":3890},"fwci":0.7022,"has_fulltext":true,"cited_by_count":81,"citation_normalized_percentile":{"value":0.60621469,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":98,"max":99},"biblio":{"volume":"10","issue":"1","first_page":"45","last_page":"45"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9916999936103821,"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"}},"topics":[{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9916999936103821,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.006200000178068876,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.0007999999797903001,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/turner-syndrome","display_name":"Turner syndrome","score":1.0},{"id":"https://openalex.org/keywords/x-chromosome-monosomy","display_name":"X chromosome monosomy","score":0.9409999847412109},{"id":"https://openalex.org/keywords/epigenetics","display_name":"epigenetics","score":0.8690000176429749},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9929999709129333},{"id":"https://openalex.org/keywords/gene-expression","display_name":"gene expression","score":0.5149999856948853},{"id":"https://openalex.org/keywords/45-x","display_name":"45,X","score":0.5569999814033508},{"id":"https://openalex.org/keywords/chromosomal-imbalances","display_name":"chromosomal imbalances","score":0.890999972820282},{"id":"https://openalex.org/keywords/sex-chromosome-dosage","display_name":"sex chromosome dosage","score":0.4569999873638153},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.5189999938011169},{"id":"https://openalex.org/keywords/sexual-infantilism","display_name":"sexual infantilism","score":0.7549999952316284},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.4620000123977661},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.3070000112056732}],"concepts":[{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.8033849000930786},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7574161291122437},{"id":"https://openalex.org/C41091548","wikidata":"https://www.wikidata.org/wiki/Q26939","display_name":"Epigenetics","level":3,"score":0.732812762260437},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6056790351867676},{"id":"https://openalex.org/C2779683239","wikidata":"https://www.wikidata.org/wiki/Q202849","display_name":"Turner syndrome","level":2,"score":0.5849645137786865},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.5737507343292236},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4838241934776306},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.47849196195602417},{"id":"https://openalex.org/C4323932","wikidata":"https://www.wikidata.org/wiki/Q898914","display_name":"X-inactivation","level":4,"score":0.44549113512039185},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.4327494204044342},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.42217308282852173},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3660053312778473},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31999439001083374},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.25699183344841003},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.17941564321517944},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.16906675696372986}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","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":"D009006","descriptor_name":"Monosomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044127","descriptor_name":"Epigenesis, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053263","descriptor_name":"Gene Regulatory Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":8,"locations":[{"id":"doi:10.1186/s13148-018-0477-0","doi":"https://doi.org/10.1186/s13148-018-0477-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-018-0477-0","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-018-0477-0","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:4825040","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5889574","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5889574","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5889574","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Epigenetics","raw_type":"Text"},{"id":"pmid:29636833","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29636833","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":"Clinical epigenetics","raw_type":"Journal Article"},{"id":"pmh:oai:dspace.uce.edu.ec:25000/15125","doi":null,"is_oa":true,"landing_page_url":"http://www.dspace.uce.edu.ec/handle/25000/15125","pdf_url":null,"source":{"id":"https://openalex.org/S4406922895","display_name":"Repositorio Digital de la Universidad Central del Ecuador","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Art\u00edculo"},{"id":"pmh:oai:doaj.org/article:14b06ff589114c2dbaf93f31b77d3389","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/14b06ff589114c2dbaf93f31b77d3389","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Epigenetics, Vol 10, Iss 1, Pp 1-20 (2018)","raw_type":"article"},{"id":"doi:10.60692/76fpy-dsc96","doi":"https://doi.org/10.60692/76fpy-dsc96","is_oa":true,"landing_page_url":"https://doi.org/10.60692/76fpy-dsc96","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/hv8ra-1cg78","doi":"https://doi.org/10.60692/hv8ra-1cg78","is_oa":true,"landing_page_url":"https://doi.org/10.60692/hv8ra-1cg78","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.1186/s13148-018-0477-0","doi":"https://doi.org/10.1186/s13148-018-0477-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13148-018-0477-0","pdf_url":"https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-018-0477-0","source":{"id":"https://openalex.org/S200416800","display_name":"Clinical Epigenetics","issn_l":"1868-7075","issn":["1868-7075","1868-7083"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Epigenetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2802224646.pdf","grobid_xml":"https://content.openalex.org/works/W2802224646.grobid-xml"},"referenced_works_count":160,"referenced_works":["https://openalex.org/W28491992","https://openalex.org/W80038410","https://openalex.org/W111961697","https://openalex.org/W204297156","https://openalex.org/W1266727882","https://openalex.org/W1482244404","https://openalex.org/W1501341422","https://openalex.org/W1519159641","https://openalex.org/W1519718418","https://openalex.org/W1529934215","https://openalex.org/W1536654254","https://openalex.org/W1549481575","https://openalex.org/W1605547585","https://openalex.org/W1606945037","https://openalex.org/W1804159482","https://openalex.org/W1847131992","https://openalex.org/W1901605689","https://openalex.org/W1966264344","https://openalex.org/W1966509583","https://openalex.org/W1969273522","https://openalex.org/W1971578865","https://openalex.org/W1972463260","https://openalex.org/W1972509073","https://openalex.org/W1976083910","https://openalex.org/W1976516378","https://openalex.org/W1977016069","https://openalex.org/W1978602275","https://openalex.org/W1979410129","https://openalex.org/W1987097380","https://openalex.org/W1991023750","https://openalex.org/W1997381668","https://openalex.org/W1998838077","https://openalex.org/W2001524606","https://openalex.org/W2001579003","https://openalex.org/W2001841820","https://openalex.org/W2002411802","https://openalex.org/W2005759400","https://openalex.org/W2009993299","https://openalex.org/W2014767959","https://openalex.org/W2015455880","https://openalex.org/W2016362474","https://openalex.org/W2017413386","https://openalex.org/W2017627525","https://openalex.org/W2018020867","https://openalex.org/W2020958409","https://openalex.org/W2026175834","https://openalex.org/W2027338353","https://openalex.org/W2027655677","https://openalex.org/W2030228799","https://openalex.org/W2033845019","https://openalex.org/W2034457197","https://openalex.org/W2034491391","https://openalex.org/W2035689855","https://openalex.org/W2036122776","https://openalex.org/W2042233932","https://openalex.org/W2043367084","https://openalex.org/W2045829554","https://openalex.org/W2045960652","https://openalex.org/W2046241907","https://openalex.org/W2046648994","https://openalex.org/W2047754708","https://openalex.org/W2048189595","https://openalex.org/W2050183773","https://openalex.org/W2051697025","https://openalex.org/W2051948190","https://openalex.org/W2054266967","https://openalex.org/W2058843560","https://openalex.org/W2060034675","https://openalex.org/W2064149383","https://openalex.org/W2065364440","https://openalex.org/W2065522326","https://openalex.org/W2067277051","https://openalex.org/W2067812906","https://openalex.org/W2069391943","https://openalex.org/W2072301590","https://openalex.org/W2072820298","https://openalex.org/W2074148774","https://openalex.org/W2075684683","https://openalex.org/W2075805997","https://openalex.org/W2076160550","https://openalex.org/W2076524169","https://openalex.org/W2076861172","https://openalex.org/W2079102799","https://openalex.org/W2079687091","https://openalex.org/W2079705969","https://openalex.org/W2079935561","https://openalex.org/W2080726485","https://openalex.org/W2084390009","https://openalex.org/W2088513135","https://openalex.org/W2090211150","https://openalex.org/W2092774579","https://openalex.org/W2093532644","https://openalex.org/W2094722357","https://openalex.org/W2099864996","https://openalex.org/W2102218657","https://openalex.org/W2104882487","https://openalex.org/W2106208837","https://openalex.org/W2106413052","https://openalex.org/W2107733644","https://openalex.org/W2108194358","https://openalex.org/W2108373584","https://openalex.org/W2113098823","https://openalex.org/W2117495576","https://openalex.org/W2118998259","https://openalex.org/W2119912419","https://openalex.org/W2121143743","https://openalex.org/W2122538288","https://openalex.org/W2122718419","https://openalex.org/W2123820544","https://openalex.org/W2124100109","https://openalex.org/W2124359985","https://openalex.org/W2125695375","https://openalex.org/W2125905076","https://openalex.org/W2129820212","https://openalex.org/W2131778826","https://openalex.org/W2133381977","https://openalex.org/W2133894023","https://openalex.org/W2134309935","https://openalex.org/W2137404591","https://openalex.org/W2137546188","https://openalex.org/W2138879539","https://openalex.org/W2140321927","https://openalex.org/W2144783013","https://openalex.org/W2145846541","https://openalex.org/W2147501302","https://openalex.org/W2149586068","https://openalex.org/W2150601298","https://openalex.org/W2151221026","https://openalex.org/W2154193374","https://openalex.org/W2154677603","https://openalex.org/W2154728885","https://openalex.org/W2157539728","https://openalex.org/W2159160238","https://openalex.org/W2160177764","https://openalex.org/W2160473082","https://openalex.org/W2160762623","https://openalex.org/W2165634796","https://openalex.org/W2166669288","https://openalex.org/W2167136523","https://openalex.org/W2171530288","https://openalex.org/W2171830530","https://openalex.org/W2179386566","https://openalex.org/W2181935818","https://openalex.org/W2185689195","https://openalex.org/W2208093466","https://openalex.org/W2220789576","https://openalex.org/W2226817873","https://openalex.org/W2255077579","https://openalex.org/W2328582143","https://openalex.org/W2346394985","https://openalex.org/W2395433523","https://openalex.org/W2414056535","https://openalex.org/W2417342654","https://openalex.org/W2524555062","https://openalex.org/W2526246975","https://openalex.org/W2735815275","https://openalex.org/W2761223561","https://openalex.org/W3146905857","https://openalex.org/W4253101444","https://openalex.org/W4301069750"],"related_works":["https://openalex.org/W2017413386","https://openalex.org/W2915829491","https://openalex.org/W7167101449","https://openalex.org/W3030807072","https://openalex.org/W2524555062","https://openalex.org/W3197232691","https://openalex.org/W4280491098","https://openalex.org/W2099864996","https://openalex.org/W1587586764","https://openalex.org/W4384943255"],"abstract_inverted_index":{"Background:":[0],"Monosomy":[1],"of":[2,21,26,37,69,78,115,122,151,177,186,200,215,248,262,292,306],"the":[3,7,70,76,120,123,174,184,192,195,206,216,282,303],"X":[4,187],"chromosome":[5,188],"is":[6,16,61,266],"most":[8],"frequent":[9],"genetic":[10,179],"abnormality":[11,139],"in":[12,18,75,129,148,155,183,254,301],"human":[13,130,234,240],"as":[14],"it":[15],"present":[17],"approximately":[19],"2%":[20],"all":[22,263],"conceptions,":[23],"although":[24],"99%":[25],"these":[27,244,264,293,307],"embryos":[28],"are":[29,273,279],"spontaneously":[30],"miscarried.":[31],"In":[32,168],"postnatal":[33],"life,":[34],"clinical":[35,81,160,283],"features":[36],"Turner":[38,59],"syndrome":[39,60],"may":[40,85,97,297,310],"include":[41],"typical":[42],"dysmorphic":[43],"stigmata,":[44],"short":[45],"stature,":[46],"sexual":[47,72],"infantilism,":[48],"and":[49,54,131,161,180,197,237,269,278,309],"renal,":[50],"cardiac,":[51],"skeletal,":[52],"endocrine":[53],"metabolic":[55,162],"abnormalities.":[56],"Main":[57],"text:":[58],"due":[62,89],"to":[63,90,141,219,252,256],"a":[64,107,246],"partial":[65],"or":[66],"total":[67],"loss":[68],"second":[71,124],"chromosome,":[73],"resulting":[74],"development":[77],"highly":[79],"variable":[80],"features.":[82],"This":[83],"phenotype":[84],"not":[86],"merely":[87],"be":[88],"genomic":[91],"imbalance":[92],"from":[93,100,208],"deleted":[94],"genes":[95,105,154],"but":[96],"also":[98],"result":[99],"additive":[101],"influences":[102],"on":[103,165,227],"associated":[104,157],"within":[106],"given":[108],"gene":[109,116,213],"network,":[110],"with":[111,158,281],"an":[112],"altered":[113],"regulation":[114],"expression":[117,214],"triggered":[118],"by":[119,203,286],"absence":[121],"sex":[125],"chromosome.":[126],"Current":[127],"studies":[128,210,265],"mouse":[132],"models":[133],"have":[134,298],"demonstrated":[135],"that":[136,211,267],"this":[137,169],"chromosomal":[138,257],"leads":[140],"epigenetic":[142,181,249],"changes,":[143],"including":[144],"differential":[145],"DNA":[146],"methylation":[147],"specific":[149],"groups":[150],"downstream":[152],"target":[153],"pathways":[156,296],"several":[159,209],"features,":[163],"mostly":[164],"autosomal":[166],"chromosomes.":[167],"article,":[170],"we":[171],"begin":[172],"exploring":[173],"potential":[175],"involvement":[176],"both":[178],"factors":[182],"origin":[185],"monosomy.":[189],"We":[190],"review":[191],"dispute":[193],"between":[194],"meiotic":[196],"post-zygotic":[198],"origins":[199],"45,X":[201,217],"monosomy,":[202],"mainly":[204],"analyzing":[205],"findings":[207],"compare":[212],"monosomy":[218],"their":[220],"euploid":[221],"and/or":[222],"47,XXX":[223],"trisomic":[224],"cell":[225,241],"counterparts":[226],"peripheral":[228],"blood":[229],"mononuclear":[230],"cells,":[231,236],"amniotic":[232],"fluid,":[233],"fibroblast":[235],"induced":[238],"pluripotent":[239],"lines.":[242],"From":[243],"studies,":[245],"profile":[247],"changes":[250],"seems":[251],"emerge":[253],"response":[255],"imbalance.":[258],"An":[259],"interesting":[260],"finding":[261],"methylation-based":[268],"expression-based":[270],"pathway":[271],"analyses":[272],"complementary,":[274],"rather":[275],"than":[276],"overlapping,":[277],"correlated":[280],"picture":[284],"displayed":[285],"TS":[287],"subjects.":[288],"Conclusions:":[289],"The":[290],"clarification":[291],"possible":[294],"causal":[295],"future":[299],"implications":[300],"increasing":[302],"life":[304],"expectancy":[305],"patients":[308],"provide":[311],"informative":[312],"targets":[313],"for":[314],"early":[315],"pharmaceutical":[316],"intervention.":[317]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":13},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":8}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2018-05-17T00:00:00"}