{"id":"https://openalex.org/W2024924010","doi":"https://doi.org/10.1007/s100380050115","title":"Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies","display_name":"Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies","publication_year":1999,"publication_date":"1999-03-01","ids":{"openalex":"https://openalex.org/W2024924010","doi":"https://doi.org/10.1007/s100380050115","mag":"2024924010","pmid":"https://pubmed.ncbi.nlm.nih.gov/10083730"},"language":"en","primary_location":{"id":"doi:10.1007/s100380050115","doi":"https://doi.org/10.1007/s100380050115","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s100380050115","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5110008268","display_name":"Keiko Wakui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Keiko Wakui","raw_affiliation_strings":["Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Nagano, Japan","Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Nagano, Japan","institution_ids":["https://openalex.org/I137975476"]},{"raw_affiliation_string":"Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002030866","display_name":"Mitsuyo Tanemura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33858575","display_name":"Nagoya City University","ror":"https://ror.org/04wn7wc95","country_code":"JP","type":"education","lineage":["https://openalex.org/I33858575"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mitsuyo Tanemura","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Nagoya City University Medical School, Aichi, Japan, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Nagoya City University Medical School, Aichi, Japan, Japan","institution_ids":["https://openalex.org/I33858575"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083321590","display_name":"Kaoru Suzumori","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33858575","display_name":"Nagoya City University","ror":"https://ror.org/04wn7wc95","country_code":"JP","type":"education","lineage":["https://openalex.org/I33858575"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kaoru Suzumori","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Nagoya City University Medical School, Aichi, Japan, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Nagoya City University Medical School, Aichi, Japan, Japan","institution_ids":["https://openalex.org/I33858575"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061091423","display_name":"Eiko Hidaka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Eiko Hidaka","raw_affiliation_strings":["Department of Laboratory Medicine, Shinshu University School of Medicine, Nagano, Japan, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, Shinshu University School of Medicine, Nagano, Japan, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111379205","display_name":"Masayo Ishikawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masayo Ishikawa","raw_affiliation_strings":["Department of Laboratory Medicine, Shinshu University School of Medicine, Nagano, Japan, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, Shinshu University School of Medicine, Nagano, Japan, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088655966","display_name":"Takeo Kubota","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeo Kubota","raw_affiliation_strings":["Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan","institution_ids":["https://openalex.org/I137975476"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111500931","display_name":"Y. Fukushima","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Fukushima","raw_affiliation_strings":["Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan Tel. +81-263-37-2617; Fax +81-263-37-2619 e-mail: yfukush@sch.md.shinshu-u.ac.jp, Japan","institution_ids":["https://openalex.org/I137975476"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":4.2068,"has_fulltext":true,"cited_by_count":24,"citation_normalized_percentile":{"value":0.93698497,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"44","issue":"2","first_page":"85","last_page":"90"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9599999785423279,"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":0.9599999785423279,"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":0.037300001829862595,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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/chromosomal-translocation","display_name":"chromosomal translocation","score":0.7889999747276306},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8899999856948853},{"id":"https://openalex.org/keywords/recurrent-pregnancy-loss","display_name":"recurrent pregnancy loss","score":0.9789999723434448},{"id":"https://openalex.org/keywords/multiple-congenital-anomalies","display_name":"multiple congenital anomalies","score":0.8769999742507935},{"id":"https://openalex.org/keywords/telomeric-probes","display_name":"telomeric probes","score":0.9399999976158142},{"id":"https://openalex.org/keywords/cryptic-chromosomal-rearrangements","display_name":"cryptic chromosomal rearrangements","score":0.9710000157356262},{"id":"https://openalex.org/keywords/microdeletion","display_name":"microdeletion","score":0.6639999747276306},{"id":"https://openalex.org/keywords/derivative-chromosomes","display_name":"derivative chromosomes","score":0.5260000228881836}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.8048721551895142},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.7555087804794312},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6439428329467773},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5813441872596741},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5462086796760559},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5274527072906494},{"id":"https://openalex.org/C86546924","wikidata":"https://www.wikidata.org/wiki/Q3454460","display_name":"Chromosomal rearrangement","level":5,"score":0.4224066734313965},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.3282928168773651},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15576797723770142},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.11411887407302856},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.08519986271858215}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000026","descriptor_name":"Abortion, Habitual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000026","descriptor_name":"Abortion, Habitual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000026","descriptor_name":"Abortion, Habitual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","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":"D005260","descriptor_name":"Female","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":"D006801","descriptor_name":"Humans","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":"D007621","descriptor_name":"Karyotyping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","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":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s100380050115","doi":"https://doi.org/10.1007/s100380050115","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s100380050115","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:10083730","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10083730","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":"Journal of human genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309626","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W317144524","https://openalex.org/W1978269204","https://openalex.org/W1986885179","https://openalex.org/W1991231381","https://openalex.org/W2001937848","https://openalex.org/W2021678635","https://openalex.org/W2033809232","https://openalex.org/W2045642222","https://openalex.org/W2047295844","https://openalex.org/W2047784706","https://openalex.org/W2061564565","https://openalex.org/W2068468739","https://openalex.org/W2095405344","https://openalex.org/W4242317455"],"related_works":["https://openalex.org/W2059214052","https://openalex.org/W1975964136","https://openalex.org/W2367208703","https://openalex.org/W2367253219","https://openalex.org/W4283579103","https://openalex.org/W2377233807","https://openalex.org/W1987823376","https://openalex.org/W2401792989","https://openalex.org/W2474001106","https://openalex.org/W2032674288"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2025-10-10T00:00:00"}