{"id":"https://openalex.org/W204307915","doi":"https://doi.org/10.1159/000424400","title":"Clinical Applications of Genetic Linkage Analysis for the Molecular Diagnostics of ADPKD, Using DNA Markers Linked to the PKD1 and PKD2 Genes","display_name":"Clinical Applications of Genetic Linkage Analysis for the Molecular Diagnostics of ADPKD, Using DNA Markers Linked to the PKD1 and PKD2 Genes","publication_year":2015,"publication_date":"2015-04-20","ids":{"openalex":"https://openalex.org/W204307915","doi":"https://doi.org/10.1159/000424400","mag":"204307915","pmid":"https://pubmed.ncbi.nlm.nih.gov/8585924"},"language":"en","primary_location":{"id":"doi:10.1159/000424400","doi":"https://doi.org/10.1159/000424400","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000424400","pdf_url":null,"source":{"id":"https://openalex.org/S38631682","display_name":"Contributions to nephrology","issn_l":"0302-5144","issn":["0302-5144","1662-2782"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Contributions to Nephrology","raw_type":"book-chapter"},"volume":null,"type":"book-chapter","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/A5019634289","display_name":"Alberto E. Turco","orcid":"https://orcid.org/0000-0002-3476-7694","observed_orcids":["https://orcid.org/0000-0002-3476-7694"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alberto E. Turco","raw_affiliation_strings":["Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Italy","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000198802","display_name":"Sandro Rossetti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Sandro Rossetti","raw_affiliation_strings":["Institute of Genetics and","Univ of Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics and","institution_ids":[]},{"raw_affiliation_string":"Univ of Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082792780","display_name":"Bernard Peissel","orcid":"https://orcid.org/0000-0001-9233-3571","observed_orcids":["https://orcid.org/0000-0001-9233-3571"]},"institutions":[{"id":"https://openalex.org/I4210156707","display_name":"Fondazione IRCCS Istituto Nazionale dei Tumori","ror":"https://ror.org/05dwj7825","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210156707"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Bernard Peissel","raw_affiliation_strings":["Institute of Genetics and","Fondazione IRCCS Istituto Nazionale dei Tumori"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics and","institution_ids":[]},{"raw_affiliation_string":"Fondazione IRCCS Istituto Nazionale dei Tumori","institution_ids":["https://openalex.org/I4210156707"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090984314","display_name":"Linda Gammaro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Linda Gammaro","raw_affiliation_strings":["Division of Medical Nephrology, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Verona, Italy","Univ of Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Nephrology, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Verona, Italy","institution_ids":["https://openalex.org/I119439378"]},{"raw_affiliation_string":"Univ of Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073041271","display_name":"Giuseppe Maschio","orcid":"https://orcid.org/0000-0003-0137-2028","observed_orcids":["https://orcid.org/0000-0003-0137-2028"]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giuseppe Maschio","raw_affiliation_strings":["Division of Medical Nephrology, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Verona, Italy","Univ of Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Nephrology, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Verona, Italy","institution_ids":["https://openalex.org/I119439378"]},{"raw_affiliation_string":"Univ of Verona","institution_ids":["https://openalex.org/I119439378"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109187394","display_name":"Pier Franco Pignatti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119439378","display_name":"University of Verona","ror":"https://ror.org/039bp8j42","country_code":"IT","type":"education","lineage":["https://openalex.org/I119439378"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Pier Franco Pignatti","raw_affiliation_strings":["Institute of Genetics and","Univ of Verona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetics and","institution_ids":[]},{"raw_affiliation_string":"Univ of Verona","institution_ids":["https://openalex.org/I119439378"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"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":0.00761155,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"115","issue":null,"first_page":"88","last_page":"92"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","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/T11412","display_name":"Genetic and Kidney Cyst Diseases","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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/autosomal-dominant-polycystic-kidney-disease","display_name":"autosomal dominant polycystic kidney disease","score":0.9620000123977661},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.925000011920929},{"id":"https://openalex.org/keywords/pkd1-gene","display_name":"PKD1 gene","score":0.8939999938011169},{"id":"https://openalex.org/keywords/pkd2-gene","display_name":"PKD2 gene","score":1.0},{"id":"https://openalex.org/keywords/dna-markers","display_name":"DNA markers","score":0.906000018119812},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.8119999766349792},{"id":"https://openalex.org/keywords/tuberous-sclerosis-complex","display_name":"tuberous sclerosis complex","score":0.8569999933242798},{"id":"https://openalex.org/keywords/von-hippel-lindau-disease","display_name":"von Hippel-Lindau disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/alport-syndrome","display_name":"Alport syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/primary-hyperoxaluria","display_name":"primary hyperoxaluria","score":0.9900000095367432},{"id":"https://openalex.org/keywords/cystinuria","display_name":"cystinuria","score":1.0},{"id":"https://openalex.org/keywords/fabry-disease","display_name":"Fabry disease","score":0.9070000052452087},{"id":"https://openalex.org/keywords/genetic-risk-prediction","display_name":"genetic risk prediction","score":0.5600000023841858}],"concepts":[{"id":"https://openalex.org/C100773827","wikidata":"https://www.wikidata.org/wiki/Q82302467","display_name":"PKD1","level":4,"score":0.8920976519584656},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6551395058631897},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.565730094909668},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.530555009841919},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.5244700908660889},{"id":"https://openalex.org/C179786068","wikidata":"https://www.wikidata.org/wiki/Q16257937","display_name":"Molecular diagnostics","level":2,"score":0.4614938497543335},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.46004796028137207},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.4343813955783844},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.4240124821662903},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4165581464767456},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19208532571792603},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.12012958526611328},{"id":"https://openalex.org/C2776266639","wikidata":"https://www.wikidata.org/wiki/Q2732398","display_name":"Autosomal dominant polycystic kidney disease","level":3,"score":0.11844092607498169},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1058429479598999}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002894","descriptor_name":"Chromosomes, Human, Pair 4","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":"D007558","descriptor_name":"Italy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016891","descriptor_name":"Polycystic Kidney, Autosomal Dominant","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D016891","descriptor_name":"Polycystic Kidney, Autosomal Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D050396","descriptor_name":"TRPP Cation Channels","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1159/000424400","doi":"https://doi.org/10.1159/000424400","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000424400","pdf_url":null,"source":{"id":"https://openalex.org/S38631682","display_name":"Contributions to nephrology","issn_l":"0302-5144","issn":["0302-5144","1662-2782"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Contributions to Nephrology","raw_type":"book-chapter"},{"id":"pmid:8585924","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8585924","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":"Contributions to nephrology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320326074","display_name":"Regione del Veneto","ror":"https://ror.org/03mm67z69"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2261752554","https://openalex.org/W2280518227","https://openalex.org/W2003395711","https://openalex.org/W2766704070","https://openalex.org/W2412084299","https://openalex.org/W2047808034","https://openalex.org/W4389163307","https://openalex.org/W2008777092","https://openalex.org/W2056904229","https://openalex.org/W2416995890"],"abstract_inverted_index":{"This":[0],"volume":[1,113],"contains":[2],"over":[3],"40":[4],"informative":[5],"contributions":[6],"from":[7],"leading":[8],"specialists":[9],"in":[10,68,128,167],"the":[11,15,55,70,95,118,132,142,158,168],"field":[12],"focusing":[13],"on":[14,150],"following":[16],"inheritable":[17],"diseases:":[18],"-":[19,23,27,31,34,37,39],"Polycystic":[20],"kidney":[21,52],"disease":[22,30,41,73],"Tuberous":[24],"sclerosis":[25],"complex":[26],"Von":[28],"Hippel-Lindau":[29],"Alport":[32],"syndrome":[33],"Primary":[35],"hyperoxaluria":[36],"Cystinuria":[38],"Anderson-Fabry":[40],"Recent":[42],"scientific":[43],"advances":[44],"have":[45],"changed":[46],"our":[47],"knowledge":[48,59],"regarding":[49],"several":[50],"hereditary":[51],"diseases":[53,100],"and":[54,93,125,156],"application":[56,134],"of":[57,65,72,85,98,111,121,135,141,153],"this":[58,112],"will":[60,89],"open":[61],"a":[62,151],"new":[63,148],"era":[64],"molecular":[66,126],"medicine":[67],"which":[69],"risk":[71],"can":[74],"be":[75,106],"accurately":[76],"assessed":[77],"by":[78],"DNA-based":[79],"diagnostic":[80,137],"procedures.":[81],"The":[82,109],"appropriate":[83],"use":[84],"preemptive":[86],"medical":[87],"care":[88],"benefit":[90],"all":[91,164],"patients":[92],"lower":[94],"social":[96],"costs":[97],"certain":[99],"but":[101],"ethical":[102],"guidelines":[103],"need":[104],"to":[105,115,130],"clearly":[107],"established.":[108],"goal":[110],"is":[114,160],"bring":[116],"together":[117],"latest":[119],"findings":[120],"clinical":[122,133],"nephrologists,":[123],"geneticists":[124],"biologists":[127],"order":[129],"further":[131],"genetic":[136],"techniques":[138],"for":[139,163],"some":[140],"most":[143],"common":[144],"inherited":[145],"nephropathies.":[146],"Throwing":[147],"light":[149],"range":[152],"important":[154],"topics":[155],"issues,":[157],"book":[159],"very":[161],"valuable":[162],"those":[165],"interested":[166],"field.":[169]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
