{"id":"https://openalex.org/W4200345987","doi":"https://doi.org/10.3760/cma.j.cn511374-20201027-00755","title":"[Identification of pathogenic variant and preimplantation genetic testing for a Chinese family affected with osteogenesis imperfecta].","display_name":"[Identification of pathogenic variant and preimplantation genetic testing for a Chinese family affected with osteogenesis imperfecta].","publication_year":2022,"publication_date":"2022-01-10","ids":{"openalex":"https://openalex.org/W4200345987","doi":"https://doi.org/10.3760/cma.j.cn511374-20201027-00755","pmid":"https://pubmed.ncbi.nlm.nih.gov/34964960"},"language":"zh","primary_location":{"id":"pmid:34964960","doi":"https://doi.org/10.3760/cma.j.cn511374-20201027-00755","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34964960","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":"Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5100386707","display_name":"Chuang Li","orcid":"https://orcid.org/0000-0002-6346-2857","observed_orcids":["https://orcid.org/0000-0002-6346-2857"]},"institutions":[{"id":"https://openalex.org/I91656880","display_name":"China Medical University","ror":"https://ror.org/032d4f246","country_code":"CN","type":"education","lineage":["https://openalex.org/I91656880"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chuang Li","raw_affiliation_strings":["Department of Gynecology and Obstetrics, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning 110004, China. hawk.lv@163.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gynecology and Obstetrics, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning 110004, China. hawk.lv@163.com","institution_ids":["https://openalex.org/I91656880"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010636698","display_name":"Rui Hou","orcid":"https://orcid.org/0000-0002-0348-8772","observed_orcids":["https://orcid.org/0000-0002-0348-8772"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rui Hou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100770017","display_name":"Caixia Liu","orcid":"https://orcid.org/0000-0001-7019-0266","observed_orcids":["https://orcid.org/0000-0001-7019-0266"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Caixia Liu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108119342","display_name":"Huan Li","orcid":"https://orcid.org/0009-0004-2695-6825","observed_orcids":["https://orcid.org/0009-0004-2695-6825"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Huan Li","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042718871","display_name":"Jesse Li\u2010Ling","orcid":"https://orcid.org/0000-0003-1723-9088","observed_orcids":["https://orcid.org/0000-0003-1723-9088"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jesse Li-Ling","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5101632471","display_name":"Yuan Lyu","orcid":"https://orcid.org/0000-0002-9752-9220","observed_orcids":["https://orcid.org/0000-0002-9752-9220"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yuan Lyu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"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":0.00215615,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"39","issue":"1","first_page":"21","last_page":"25"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.8955000042915344,"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":0.8955000042915344,"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/T11310","display_name":"Connective tissue disorders research","score":0.08349999785423279,"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":0.010099999606609344,"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/osteogenesis-imperfecta","display_name":"osteogenesis imperfecta","score":0.9940000176429749},{"id":"https://openalex.org/keywords/col1a1","display_name":"COL1A1","score":0.9430000185966492},{"id":"https://openalex.org/keywords/preimplantation-genetic-testing","display_name":"preimplantation genetic testing","score":0.9750000238418579},{"id":"https://openalex.org/keywords/embryo-mosaicism","display_name":"embryo mosaicism","score":0.8040000200271606},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6779999732971191},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8029999732971191},{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.6940000057220459}],"concepts":[{"id":"https://openalex.org/C2777668750","wikidata":"https://www.wikidata.org/wiki/Q749409","display_name":"Osteogenesis imperfecta","level":2,"score":0.8319728374481201},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8129960894584656},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.6348276734352112},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.623728334903717},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6167151927947998},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5867950320243835},{"id":"https://openalex.org/C2778194526","wikidata":"https://www.wikidata.org/wiki/Q901674","display_name":"Amniotic fluid","level":4,"score":0.5303131937980652},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5264861583709717},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.46811312437057495},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.4445292055606842},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4352056682109833},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3694394826889038},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29472559690475464},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.2905057668685913},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.16963908076286316},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.10370609164237976}],"mesh":[{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","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":"D005820","descriptor_name":"Genetic Testing","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":"D010013","descriptor_name":"Osteogenesis Imperfecta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019836","descriptor_name":"Preimplantation Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":1,"locations":[{"id":"pmid:34964960","doi":"https://doi.org/10.3760/cma.j.cn511374-20201027-00755","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34964960","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":"Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"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":0,"referenced_works":[],"related_works":["https://openalex.org/W3208771743","https://openalex.org/W4301400842","https://openalex.org/W3010912477","https://openalex.org/W2008300542","https://openalex.org/W6976915122","https://openalex.org/W2804010373","https://openalex.org/W4294792820","https://openalex.org/W2888206104","https://openalex.org/W3019524642","https://openalex.org/W3018680266"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"identify":[2,31],"the":[3,19,32,36,48,55,86,101,123,129,146,153,163,172,202,212,227],"pathogenic":[4,213],"variant":[5,34,78,99,106],"for":[6,18,128,134,145,208],"a":[7],"husband":[8,37,92],"with":[9,193],"osteogenesis":[10,197],"imperfecta":[11],"and":[12,24,62,168],"provide":[13],"preimplantation":[14],"genetic":[15,63,151,217],"testing":[16,64,160],"(PGT)":[17],"couple.":[20],"METHODS:":[21],"High-throughput":[22],"sequencing":[23,26],"Sanger":[25],"were":[27,142],"carried":[28,71,223],"out":[29,72,118,224],"to":[30,95,225],"pathologic":[33],"in":[35,110],"patients.":[38],"PGT":[39,115,209],"of":[40,47,54,65,85,100,112,119,122,136,178,183,201],"embryos":[41,121,141],"was":[42,57,70,80,93,107,126,156,185],"performed":[43],"through":[44],"direct":[45,199],"detection":[46,200],"mutation":[49,203],"site.":[50],"Meanwhile,":[51],"chromosome":[52],"aneuploidy":[53],"blastocysts":[56],"screened.":[58],"Following":[59,149],"transplantation,":[60],"cytogenetic":[61],"fetal":[66],"amniotic":[67],"fluid":[68,159],"sample":[69],"during":[73],"mid-pregnancy.":[74],"Chromosome":[75],"copy":[76,176],"number":[77,177],"(CNV)":[79],"detected":[81,109],"at":[82,180],"multiple":[83],"sites":[84],"placenta":[87,184],"after":[88,187,210],"delivery.":[89],"RESULTS:":[90],"The":[91,104,138,175],"found":[94],"harbor":[96],"heterozygous":[97,144],"c.544-2A>G":[98,147,173],"COL1A1":[102],"gene.":[103],"same":[105],"not":[108,170],"either":[111],"his":[113],"parents.":[114],"revealed":[116],"that":[117,162],"three":[120],"couple,":[124],"one":[125],"wild-type":[127,154],"c.544-2A":[130],"site":[131,204],"but":[132],"mosaicism":[133],"duplication":[135],"16p13.3.11.2.":[137],"other":[139],"two":[140],"both":[143],"variant.":[148,174,214],"adequate":[150,216],"counseling,":[152,218],"embryo":[155],"transplanted.":[157],"Amniotic":[158],"confirmed":[161],"fetus":[164],"had":[165],"normal":[166,186],"chromosomes":[167,179],"did":[169],"carry":[171],"different":[181],"parts":[182],"birth.":[188],"CONCLUSION:":[189],"For":[190],"couples":[191],"affected":[192],"monogenic":[194],"disorders,":[195],"e.g.,":[196],"imperfecta,":[198],"may":[205],"be":[206,222],"used":[207],"identifying":[211],"After":[215],"prenatal":[219],"diagnosis":[220],"must":[221],"ensure":[226],"result.":[228]},"counts_by_year":[],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2021-12-31T00:00:00"}