{"id":"https://openalex.org/W2060640544","doi":"https://doi.org/10.1002/ajmg.1320380213","title":"Gene localization in a family with X\u2010linked syndromal mental retardation (Prieto syndrome)","display_name":"Gene localization in a family with X\u2010linked syndromal mental retardation (Prieto syndrome)","publication_year":1991,"publication_date":"1991-02-01","ids":{"openalex":"https://openalex.org/W2060640544","doi":"https://doi.org/10.1002/ajmg.1320380213","mag":"2060640544","pmid":"https://pubmed.ncbi.nlm.nih.gov/1673297"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320380213","doi":"https://doi.org/10.1002/ajmg.1320380213","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320380213","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical 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/A5054491899","display_name":"Anke Watty","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Anke Watty","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113485711","display_name":"F\u00e9lix Prieto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"F\u00e9lix Prieto","raw_affiliation_strings":["Genetic Section, La Fe Hospital, Valencia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Section, La Fe Hospital, Valencia, Spain","institution_ids":["https://openalex.org/I3019010403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111871369","display_name":"Magdalena Beneyto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Magdalena Beneyto","raw_affiliation_strings":["Genetic Section, La Fe Hospital, Valencia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Section, La Fe Hospital, Valencia, Spain","institution_ids":["https://openalex.org/I3019010403"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108489813","display_name":"Meinhard Neugebauer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Meinhard Neugebauer","raw_affiliation_strings":["Institut fu\u0308r Medizinische Statistik, Bonn, Germany","Institut f\u00fcr Medizinische Statistik, Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fu\u0308r Medizinische Statistik, Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Institut f\u00fcr Medizinische Statistik, Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5067293009","display_name":"Andreas Gal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Andreas Gal","raw_affiliation_strings":["Institut fu\u0308r Humangenetik, Bonn","Institut f\u00fcr Humangenetik, Bonn"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fu\u0308r Humangenetik, Bonn","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Bonn","institution_ids":["https://openalex.org/I135140700"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5067293009"],"corresponding_institution_ids":["https://openalex.org/I135140700"],"apc_list":null,"apc_paid":null,"fwci":1.2832,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.79686394,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"38","issue":"2-3","first_page":"234","last_page":"239"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9810000061988831,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9810000061988831,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.006200000178068876,"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":0.0032999999821186066,"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/genetic-mapping","display_name":"gene mapping","score":0.8339999914169312},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.6930000185966492},{"id":"https://openalex.org/keywords/ear-malformations","display_name":"ear malformations","score":0.8489999771118164},{"id":"https://openalex.org/keywords/clinodactyly","display_name":"clinodactyly","score":0.8450000286102295},{"id":"https://openalex.org/keywords/patellar-luxation","display_name":"patellar luxation","score":0.9800000190734863},{"id":"https://openalex.org/keywords/otc","display_name":"OTC","score":0.6200000047683716},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.3490000069141388}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.833232045173645},{"id":"https://openalex.org/C2776950073","wikidata":"https://www.wikidata.org/wiki/Q1774721","display_name":"Clinodactyly","level":2,"score":0.703843355178833},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.6647169589996338},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6448132991790771},{"id":"https://openalex.org/C2775860004","wikidata":"https://www.wikidata.org/wiki/Q7205999","display_name":"Pneumoencephalography","level":2,"score":0.5301393270492554},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5258669853210449},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.5122179388999939},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2895759344100952},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.1054692268371582},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.05490821599960327}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","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":"D005819","descriptor_name":"Genetic Markers","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":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320380213","doi":"https://doi.org/10.1002/ajmg.1320380213","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320380213","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:1673297","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1673297","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":"American journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W99472226","https://openalex.org/W1979345117","https://openalex.org/W1979599611","https://openalex.org/W1980504878","https://openalex.org/W2010257109","https://openalex.org/W2014996149","https://openalex.org/W2019795736","https://openalex.org/W2039340992","https://openalex.org/W2040975368","https://openalex.org/W2047482447","https://openalex.org/W2061737319","https://openalex.org/W2061915586","https://openalex.org/W2064041592","https://openalex.org/W2068776261","https://openalex.org/W2071117507","https://openalex.org/W2073161671","https://openalex.org/W2079445075","https://openalex.org/W2083873648","https://openalex.org/W2085736144","https://openalex.org/W2114709381","https://openalex.org/W2140194348","https://openalex.org/W2916287926"],"related_works":["https://openalex.org/W1986634808","https://openalex.org/W2033105561","https://openalex.org/W1568169365","https://openalex.org/W2127744256","https://openalex.org/W2071117507","https://openalex.org/W80846666","https://openalex.org/W4243754584","https://openalex.org/W2087036829","https://openalex.org/W2081159761","https://openalex.org/W2056063256"],"abstract_inverted_index":{"A":[0],"mapping":[1],"study":[2],"was":[3,45,57],"performed":[4],"on":[5,123],"a":[6,18,40],"3-generation":[7],"Spanish":[8],"family":[9],"with":[10,51],"X-linked":[11],"syndromal":[12],"mental":[13],"retardation.":[14],"Affected":[15],"males":[16],"have":[17],"typical":[19],"facial":[20],"appearance,":[21],"ear":[22],"malformations,":[23],"abnormal":[24],"growth":[25],"of":[26,89,99,107],"teeth,":[27],"clinodactyly,":[28],"dimpled":[29],"skin":[30],"at":[31],"the":[32,48,60,64,80,86,92,113],"lower":[33],"back,":[34],"and":[35,63,67,83,91,120],"patellar":[36],"luxation.":[37],"In":[38,47],"pneumoencephalography":[39],"marked":[41],"subcortical":[42],"cerebral":[43],"atrophy":[44],"evident.":[46],"linkage":[49,96],"studies":[50],"polymorphic":[52],"DNA":[53],"markers,":[54],"no":[55],"recombination":[56],"found":[58],"between":[59,79,117],"disease":[61,81,114],"locus":[62,82,115],"loci":[65,84,98],"OTC":[66],"DXS148,":[68],"both":[69],"assigned":[70],"to":[71,97],"Xp21.1.":[72],"One":[73],"or":[74],"more":[75],"recombinants":[76],"were":[77],"observed":[78],"from":[85],"distal":[87],"part":[88],"Xp":[90],"pericentromeric":[93],"region.":[94],"Close":[95],"Xq":[100],"has":[101],"also":[102],"been":[103],"excluded.":[104],"The":[105],"analysis":[106],"multiple":[108],"informative":[109],"meioses":[110],"suggests":[111],"that":[112],"maps":[116],"DXS255":[118],"(Xp11.22)":[119],"DXS84":[121],"(Xp21.1)":[122],"Xp.":[124]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}