{"id":"https://openalex.org/W33932444","doi":null,"title":"[Chromosome 15 satellite enlargement and hereditary deafness].","display_name":"[Chromosome 15 satellite enlargement and hereditary deafness].","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W33932444","mag":"33932444","pmid":"https://pubmed.ncbi.nlm.nih.gov/7803123"},"language":"zh","primary_location":{"id":"pmid:7803123","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7803123","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 er bi yan hou ke za zhi","raw_type":"Case Reports"},"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":null,"display_name":"J Zhuang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125270","display_name":"Fujian Provincial People's Hospital","ror":"https://ror.org/038thw008","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210125270"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J Zhuang","raw_affiliation_strings":["Fujian Provincial People's Hospital, Fuzhou"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fujian Provincial People's Hospital, Fuzhou","institution_ids":["https://openalex.org/I4210125270"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101421155","display_name":"Xin Hu","orcid":"https://orcid.org/0000-0002-0270-1922","observed_orcids":["https://orcid.org/0000-0002-0270-1922"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"X Hu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"B Zhang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Zhang","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":1,"citation_normalized_percentile":{"value":0.00539876,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"29","issue":"4","first_page":"225","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.5884000062942505,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.5884000062942505,"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.3434999883174896,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.01810000091791153,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/hereditary-hearing-loss","display_name":"hereditary hearing loss","score":0.9120000004768372},{"id":"https://openalex.org/keywords/progressive-sensorineural-hearing-loss","display_name":"progressive sensorineural hearing loss","score":0.7919999957084656},{"id":"https://openalex.org/keywords/familial-deafness","display_name":"familial deafness","score":0.4790000021457672},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7229999899864197},{"id":"https://openalex.org/keywords/hearing-loss-genetics","display_name":"hearing loss genetics","score":0.4729999899864197}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.9629350304603577},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.8303521871566772},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5738575458526611},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.5243865847587585},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5191589593887329},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.513978898525238},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24314963817596436},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22386914491653442},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004276","descriptor_name":"DNA, Satellite","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:7803123","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7803123","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 er bi yan hou ke za zhi","raw_type":"Case Reports"},{"id":"mag:33932444","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7803123","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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.7246000170707703,"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":57,"referenced_works":["https://openalex.org/W284033874","https://openalex.org/W746610600","https://openalex.org/W1892813958","https://openalex.org/W1901833910","https://openalex.org/W1980324695","https://openalex.org/W1981986780","https://openalex.org/W1999918522","https://openalex.org/W2001734687","https://openalex.org/W2035743911","https://openalex.org/W2041035765","https://openalex.org/W2043265887","https://openalex.org/W2051238023","https://openalex.org/W2056760970","https://openalex.org/W2059755711","https://openalex.org/W2062799946","https://openalex.org/W2080064317","https://openalex.org/W2109108548","https://openalex.org/W2112645200","https://openalex.org/W2118773805","https://openalex.org/W2120617829","https://openalex.org/W2127069858","https://openalex.org/W2129222309","https://openalex.org/W2138362890","https://openalex.org/W2138841389","https://openalex.org/W2142715166","https://openalex.org/W2143894870","https://openalex.org/W2144884298","https://openalex.org/W2147566151","https://openalex.org/W2157577807","https://openalex.org/W2165836181","https://openalex.org/W2167430662","https://openalex.org/W2170362099","https://openalex.org/W2407960705","https://openalex.org/W2441275298","https://openalex.org/W2570959155","https://openalex.org/W2587788572","https://openalex.org/W2588271989","https://openalex.org/W2613775504","https://openalex.org/W2690553154","https://openalex.org/W2772195672","https://openalex.org/W2794022179","https://openalex.org/W2805990488","https://openalex.org/W2807898780","https://openalex.org/W2891910101","https://openalex.org/W2904805861","https://openalex.org/W2905898547","https://openalex.org/W2909132458","https://openalex.org/W2950465399","https://openalex.org/W2964459657","https://openalex.org/W2965363701","https://openalex.org/W2971694758","https://openalex.org/W2999417355","https://openalex.org/W3088179827","https://openalex.org/W3094116695","https://openalex.org/W3133469754","https://openalex.org/W4200117142","https://openalex.org/W6750221790"],"related_works":["https://openalex.org/W2953028152","https://openalex.org/W2145190928","https://openalex.org/W6939825096","https://openalex.org/W3161173948","https://openalex.org/W2004060024","https://openalex.org/W1988215545","https://openalex.org/W3034686292","https://openalex.org/W2886321473","https://openalex.org/W2052996255","https://openalex.org/W2049205612"],"abstract_inverted_index":{"The":[0,83,163],"clinical":[1,132],"and":[2,31,47,90,107,114,134,159,170],"cytologic":[3],"examinations":[4],"in":[5,52,101],"6":[6],"deaf":[7],"patients":[8],"from":[9,34,80,92,99,166,174,184],"2":[10,95,120],"genealogical":[11],"trees":[12],"with":[13,36,108],"chromosomal":[14,192],"15":[15,50],"satellite":[16,49],"enlargement,":[17],"karyotype":[18,61,160],"46,":[19],"XY(X),":[20],"PS++(15)":[21],"are":[22],"reported.":[23],"A":[24],"proband":[25,84],"as":[26,28,65,85,87],"well":[27,86],"his":[29,88],"brother":[30],"sister":[32],"suffered":[33],"phenotype":[35,57,133,158],"gradual":[37],"hearing":[38,200],"loss":[39],"at":[40,116],"the":[41,63,66,70,75,81,112,126,143,152,167,179,185],"age":[42],"of":[43,69,111,146,151],"12":[44],"to":[45,119,142],"13":[46],"big":[48],"existed":[51],"chromatinic":[53],"karyotype.":[54],"His":[55],"father's":[56],"was":[58,62],"normal,":[59],"but":[60],"same":[64],"3":[67],"siblings":[68],"proband,":[71],"which":[72],"suggested":[73],"that":[74,128,156,190],"abnormal":[76,164,181],"chromosome":[77,147,165,182],"may":[78,96,139,172,195],"originate":[79,173],"father.":[82],"mother":[89,169],"uncle":[91,171],"family":[93],"tree":[94],"all":[97],"suffer":[98],"dysaudia":[100],"both":[102,157],"ears":[103],"without":[104],"any":[105],"cause":[106],"rapid":[109],"exacerbation":[110],"disease":[113],"deafness":[115],"last,":[117],"1":[118],"years":[121],"after":[122],"birth.":[123],"Based":[124],"on":[125],"fact":[127],"they":[129],"had":[130],"similar":[131],"karyotype,":[135],"their":[136],"delayed":[137],"deaf-mutism":[138],"be":[140,196],"related":[141],"structural":[144,193],"abnormality":[145,194],"15.":[148],"An":[149],"examination":[150],"proband's":[153,168,180],"grandparents":[154],"showed":[155],"were":[161],"normal.":[162],"a":[175],"new":[176],"mutation.":[177],"Obviously,":[178],"originates":[183],"mother.":[186],"It":[187],"is":[188],"estimated":[189],"such":[191],"caused":[197],"by":[198],"some":[199],"genetic":[201],"effects.":[202]},"counts_by_year":[{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
