{"id":"https://openalex.org/W2007358060","doi":"https://doi.org/10.1016/j.ejmg.2011.08.002","title":"Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3\u2013p14 and 4.22 Mb in 10q26.3","display_name":"Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3\u2013p14 and 4.22 Mb in 10q26.3","publication_year":2011,"publication_date":"2011-09-10","ids":{"openalex":"https://openalex.org/W2007358060","doi":"https://doi.org/10.1016/j.ejmg.2011.08.002","mag":"2007358060","pmid":"https://pubmed.ncbi.nlm.nih.gov/21914491"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2011.08.002","doi":"https://doi.org/10.1016/j.ejmg.2011.08.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2011.08.002","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101860341","display_name":"Georgia Christopoulou","orcid":"https://orcid.org/0000-0001-7774-4831","observed_orcids":["https://orcid.org/0000-0001-7774-4831"]},"institutions":[{"id":"https://openalex.org/I4210132022","display_name":"Mitera Hospital","ror":"https://ror.org/02mgwph26","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210132022"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"G. Christopoulou","raw_affiliation_strings":["Department of Genetics and Molecular Biology, General, Maternity/Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St., 15123 Maroussi, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Biology, General, Maternity/Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St., 15123 Maroussi, Athens, Greece","institution_ids":["https://openalex.org/I4210132022"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056986771","display_name":"Maria Tzetis","orcid":"https://orcid.org/0000-0002-6810-2922","observed_orcids":["https://orcid.org/0000-0002-6810-2922"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"M. Tzetis","raw_affiliation_strings":["Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072710153","display_name":"Anastasia Evangelia Konstantinidou","orcid":"https://orcid.org/0000-0002-2458-988X","observed_orcids":["https://orcid.org/0000-0002-2458-988X"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"A.E. Konstantinidou","raw_affiliation_strings":["1st Department of Pathology, School of Medicine, University of Athens, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1st Department of Pathology, School of Medicine, University of Athens, Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028345861","display_name":"Aspasia Tsezou","orcid":"https://orcid.org/0000-0003-1492-9331","observed_orcids":["https://orcid.org/0000-0003-1492-9331"]},"institutions":[{"id":"https://openalex.org/I145722265","display_name":"University of Thessaly","ror":"https://ror.org/04v4g9h31","country_code":"GR","type":"education","lineage":["https://openalex.org/I145722265"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"A. Tsezou","raw_affiliation_strings":["Department of Biology & Department of Cytogenetics and Molecular Genetics, Medical School, University of Thessaly, Mezourlo Hill, 41222 Larissa, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology & Department of Cytogenetics and Molecular Genetics, Medical School, University of Thessaly, Mezourlo Hill, 41222 Larissa, Greece","institution_ids":["https://openalex.org/I145722265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111755764","display_name":"Emmanuel Kanavakis","orcid":"https://orcid.org/0000-0002-1347-2678","observed_orcids":["https://orcid.org/0000-0002-1347-2678"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"E. Kanavakis","raw_affiliation_strings":["Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110149700","display_name":"S. Kitsiou\u2010Tzeli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"S. Kitsiou-Tzeli","raw_affiliation_strings":["Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, School of Medicine, University of Athens, \u201cSt Sofia\u2019s\u201d Children\u2019s Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059137088","display_name":"Voula Velissariou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210132022","display_name":"Mitera Hospital","ror":"https://ror.org/02mgwph26","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210132022"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"V. Velissariou","raw_affiliation_strings":["Department of Genetics and Molecular Biology, General, Maternity/Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St., 15123 Maroussi, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Molecular Biology, General, Maternity/Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St., 15123 Maroussi, Athens, Greece","institution_ids":["https://openalex.org/I4210132022"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5059137088"],"corresponding_institution_ids":["https://openalex.org/I4210132022"],"apc_list":{"value":3330,"currency":"USD","value_usd":3330},"apc_paid":null,"fwci":0.9122,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.76774332,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"55","issue":"1","first_page":"75","last_page":"79"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.8246999979019165,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.8246999979019165,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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":0.17159999907016754,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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"}}],"keywords":[{"id":"https://openalex.org/keywords/subtelomeric-deletion","display_name":"subtelomeric deletion","score":0.906000018119812},{"id":"https://openalex.org/keywords/clubfoot","display_name":"clubfoot","score":0.9559999704360962},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8100000023841858},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9139999747276306},{"id":"https://openalex.org/keywords/fetal-autopsy","display_name":"fetal autopsy","score":0.7170000076293945},{"id":"https://openalex.org/keywords/abortion","display_name":"abortion","score":0.6340000033378601},{"id":"https://openalex.org/keywords/multiplex-ligation-dependent-probe-amplification","display_name":"multiplex ligation-dependent probe amplification","score":0.7710000276565552},{"id":"https://openalex.org/keywords/array-based-comparative-genomic-hybridization","display_name":"array comparative genomic hybridization","score":0.843999981880188}],"concepts":[{"id":"https://openalex.org/C2781034694","wikidata":"https://www.wikidata.org/wiki/Q474261","display_name":"Ring chromosome","level":5,"score":0.7560215592384338},{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.6502128839492798},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.5673900842666626},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5668661594390869},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5129108428955078},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.5089585781097412},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5038816332817078},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48126572370529175},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4484715759754181},{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.4189887046813965},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.2572479546070099},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16353049874305725},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000649","descriptor_name":"Amniocentesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001344","descriptor_name":"Autopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002879","descriptor_name":"Chromosomes, Human, Pair 10","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":true},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005865","descriptor_name":"Gestational Age","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011256","descriptor_name":"Pregnancy Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012303","descriptor_name":"Ring Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016216","descriptor_name":"Ultrasonography, Prenatal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055028","descriptor_name":"Comparative Genomic Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.ejmg.2011.08.002","doi":"https://doi.org/10.1016/j.ejmg.2011.08.002","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2011.08.002","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:21914491","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21914491","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":"European journal of medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:ir.lib.uth.gr:11615/26708","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11615/26708","pdf_url":null,"source":{"id":"https://openalex.org/S4306400243","display_name":"University of Thessaly Institutional Repository (University of Thessaly)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145722265","host_organization_name":"University of Thessaly","host_organization_lineage":["https://openalex.org/I145722265"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"<Go to ISI>://WOS:000307539000016","raw_type":"journalArticle"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1963493016","https://openalex.org/W1971359363","https://openalex.org/W2061020731","https://openalex.org/W2062592079","https://openalex.org/W2072912543","https://openalex.org/W2096457304","https://openalex.org/W2107539678","https://openalex.org/W2140164632","https://openalex.org/W2148029908","https://openalex.org/W4249363016"],"related_works":["https://openalex.org/W2104563031","https://openalex.org/W2025843343","https://openalex.org/W2096457304","https://openalex.org/W2133044317","https://openalex.org/W2064326806","https://openalex.org/W1973070046","https://openalex.org/W1744684308","https://openalex.org/W7097049631","https://openalex.org/W2016546071","https://openalex.org/W4281398264"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}