{"id":"https://openalex.org/W10243432","doi":null,"title":"[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].","display_name":"[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].","publication_year":1997,"publication_date":"1997-08-01","ids":{"openalex":"https://openalex.org/W10243432","mag":"10243432","pmid":"https://pubmed.ncbi.nlm.nih.gov/9382349"},"language":"es","primary_location":{"id":"pmid:9382349","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9382349","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":"Anales espanoles de pediatria","raw_type":"English Abstract"},"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/A5160532996","display_name":"J L Ruibal Francisco","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2961216182","display_name":"Hospital Cl\u00ednico San Carlos","ror":"https://ror.org/04d0ybj29","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2961216182","https://openalex.org/I4210139293"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J L Ruibal Francisco","raw_affiliation_strings":["Dpto. de Pediatr\u00eda, Hospital Universitario San Carlos, Madrid"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dpto. de Pediatr\u00eda, Hospital Universitario San Carlos, Madrid","institution_ids":["https://openalex.org/I2961216182"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160568308","display_name":"P S\u00e1nchez Bur\u00f3n","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P S\u00e1nchez Bur\u00f3n","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071247648","display_name":"Estrada Mart\u00ednez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Pi\u00f1ero Mart\u00ednez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101570544","display_name":"Manuel Bueno S\u00e1nchez","orcid":"https://orcid.org/0000-0002-6166-3612","observed_orcids":["https://orcid.org/0000-0002-6166-3612"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Bueno Lozano","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5160540598","display_name":"F Reverte Blanc","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Reverte Blanc","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":0.16,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.42579759,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"47","issue":"2","first_page":"167","last_page":"71"},"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":0.9990000128746033,"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":0.9990000128746033,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"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/karyotype","display_name":"karyotype","score":0.8560000061988831},{"id":"https://openalex.org/keywords/phenotypes","display_name":"phenotypes","score":0.7900000214576721},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.9110000133514404},{"id":"https://openalex.org/keywords/associated-conditions","display_name":"associated conditions","score":0.5450000166893005},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.3840000033378601}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40836042165756226},{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4007669985294342},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.3070361614227295}],"mesh":[{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D012189","descriptor_name":"Retrospective Studies","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}],"locations_count":3,"locations":[{"id":"pmid:9382349","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9382349","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":"Anales espanoles de pediatria","raw_type":"English Abstract"},{"id":"mag:10243432","doi":null,"is_oa":false,"landing_page_url":"https://www.aeped.es/sites/default/files/anales/47-2-10.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S136590224","display_name":"Anales de Pediatr\u00eda","issn_l":"1695-4033","issn":["1695-4033","1695-9531"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-40","russia-white-list-2"],"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":null,"is_accepted":false,"is_published":false,"raw_source_name":"Anales de Pediatr\u00eda","raw_type":null},{"id":"mag:202580370","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9382349","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W62137481","https://openalex.org/W169041492","https://openalex.org/W1485819175","https://openalex.org/W1987097380","https://openalex.org/W2062874934","https://openalex.org/W2071141301","https://openalex.org/W2076829280","https://openalex.org/W2080296858","https://openalex.org/W2091513171","https://openalex.org/W2413728090"],"related_works":["https://openalex.org/W2921365158","https://openalex.org/W838387747","https://openalex.org/W7062122827","https://openalex.org/W3215718856","https://openalex.org/W7032725692","https://openalex.org/W3010009498","https://openalex.org/W2056411074","https://openalex.org/W7039849024","https://openalex.org/W7214885601","https://openalex.org/W45590766"],"abstract_inverted_index":{"UNLABELLED:":[0],"In":[1],"this":[2],"study":[3],"we":[4,23],"have":[5,24],"assessed":[6],"the":[7,33,67,91,109,235,251,265,268],"frequency":[8],"of":[9,66,70,90,94,108,234,243,250],"karyotypes,":[10],"phenotypes":[11],"and":[12,84,87,138,157,175,217,229,239,248,267,271],"some":[13],"associated":[14,272],"diseases":[15],"23":[16],"girls":[17,188],"affected":[18],"with":[19,237,240,245,253],"turner's":[20],"syndrome.":[21],"Moreover,":[22],"analyzed":[25],"their":[26],"relationships.":[27],"RESULTS:":[28],"The":[29,36,49,101,120],"most":[30,50,121],"important":[31],"findings":[32],"following:":[34],"1)":[35],"mean":[37],"age":[38],"at":[39],"diagnosis":[40],"was":[41,53,57,104,184,225],"7.37":[42],"+/-":[43],"5.65":[44],"(0,":[45],"16)":[46],"years.":[47],"2)":[48],"frequent":[51,122],"karyotype":[52,228,266],"monosomy":[54],"45XO,":[55],"which":[56],"found":[58,105,115,166,193,226,261],"in":[59,74,106,116,126,133,147,167,186,197],"fourteen":[60],"patients":[61,118,149,236,252],"(60.9%),":[62],"followed":[63],"by":[64],"isochromosome":[65],"long":[68],"arm":[69,93],"chromosome":[71,95],"46":[72],"XiXq":[73,83],"five":[75,127,148],"cases":[76,169],"(21.7%),":[77],"two":[78,88,151,154],"mosaics,":[79,241],"one":[80,85,135,139,158,176,200,203,206,209,211,214,218,249],"45":[81],"XO/46":[82],"45XO/46XX,":[86],"deletions":[89],"short":[92,124],"X":[96,246],"(46":[97],"XX":[98],"Xp-).":[99],"3)":[100],"classical":[102,258],"phenotype":[103],"87%":[107],"cases.":[110],"4)":[111],"Bone":[112],"malformations":[113,144,164,270],"were":[114,145,165,179],"nine":[117],"(39.1%).":[119],"were,":[123,194],"metacarpals":[125],"cases,":[128,199],"knee":[129],"anomalies":[130],"(Kosowicz's":[131],"sign)":[132],"four,":[134],"Madelung":[136],"deformity":[137],"alata":[140],"scapula.":[141],"5)":[142],"Renal":[143],"detected":[146],"(21.8%),":[150],"rotational":[152],"abnormalities,":[153],"horseshoe":[155],"kidneys":[156],"double":[159],"collecting":[160],"system.":[161],"6)":[162],"Cardiovascular":[163],"four":[168,198],"(17.3%).":[170],"Three":[171],"bicuspid":[172],"aortic":[173,177],"valves":[174],"coarctation":[178],"diagnosed.":[180],"7)":[181],"Otitis":[182],"media":[183],"discovered":[185],"seven":[187],"(30.5%).":[189],"8)":[190],"Other":[191],"processes":[192],"congenital":[195,207,212],"lymphedema":[196],"Klipell-Trenaunay":[201],"syndrome,":[202],"Dandy-Walker":[204],"anomaly,":[205],"glaucoma,":[208],"colesteatoma,":[210],"torticolis,":[213],"hit":[215],"luxation":[216],"essential":[219],"arterial":[220],"hypertension.":[221],"A":[222],"significant":[223],"correlation":[224,263],"between":[227,264],"phenotype,":[230],"such":[231],"that":[232],"all":[233],"monosomies":[238],"66%":[242],"those":[244],"isochromosomes":[247],"a":[254,257],"deletion":[255],"had":[256],"phenotype.":[259],"We":[260],"no":[262],"different":[269],"diseases.":[273]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}