{"id":"https://openalex.org/W2165482433","doi":"https://doi.org/10.1007/s001090050221","title":"Autosomal recessive polycystic kidney disease","display_name":"Autosomal recessive polycystic kidney disease","publication_year":1998,"publication_date":"1998-03-30","ids":{"openalex":"https://openalex.org/W2165482433","doi":"https://doi.org/10.1007/s001090050221","mag":"2165482433","pmid":"https://pubmed.ncbi.nlm.nih.gov/9587064"},"language":"en","primary_location":{"id":"doi:10.1007/s001090050221","doi":"https://doi.org/10.1007/s001090050221","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s001090050221","pdf_url":null,"source":{"id":"https://openalex.org/S114689480","display_name":"Journal of Molecular Medicine","issn_l":"0946-2716","issn":["0946-2716","1432-1440"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Molecular Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5111992870","display_name":"Klaus Zerres","orcid":"https://orcid.org/0009-0006-3368-5386","observed_orcids":["https://orcid.org/0009-0006-3368-5386"]},"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":"K. Zerres","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Germany","Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080664263","display_name":"Sabine Rudnik\u2010Sch\u00f6neborn","orcid":"https://orcid.org/0000-0001-8332-0672","observed_orcids":["https://orcid.org/0000-0001-8332-0672"]},"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":"Sabine Rudnik-Sch\u00f6neborn","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014975131","display_name":"Carsten Steinkamm","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":"Carsten Steinkamm","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089061906","display_name":"Jutta Becker","orcid":"https://orcid.org/0000-0001-7121-3511","observed_orcids":["https://orcid.org/0000-0001-7121-3511"]},"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":"Jutta Becker","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071968707","display_name":"Gabi M\u00fccher","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":"Gabi M\u00fccher","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4t Bonn, Wilhelmstrasse 31, D-53111 Bonn, Germany, , , , , , DE","institution_ids":["https://openalex.org/I135140700"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I135140700"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":1.5652,"has_fulltext":false,"cited_by_count":151,"citation_normalized_percentile":{"value":0.82278033,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"76","issue":"5","first_page":"303","last_page":"309"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":1.0,"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":1.0,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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-recessive-polycystic-kidney-disease","display_name":"autosomal recessive polycystic kidney disease","score":1.0},{"id":"https://openalex.org/keywords/pkd1-gene","display_name":"PKD1 gene","score":0.7519999742507935},{"id":"https://openalex.org/keywords/chromosome-6p","display_name":"chromosome 6p","score":0.9649999737739563},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.8019999861717224},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8069999814033508},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.5080000162124634},{"id":"https://openalex.org/keywords/late-onset-presentation","display_name":"late-onset presentation","score":0.6759999990463257},{"id":"https://openalex.org/keywords/adult-survival","display_name":"adult survival","score":0.7099999785423279},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.6489999890327454}],"concepts":[{"id":"https://openalex.org/C2910547607","wikidata":"https://www.wikidata.org/wiki/Q3395618","display_name":"Autosomal Recessive Polycystic Kidney Disease","level":4,"score":0.8999608159065247},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.5578151941299438},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.5459259748458862},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5070211887359619},{"id":"https://openalex.org/C2780145431","wikidata":"https://www.wikidata.org/wiki/Q15443105","display_name":"Polycystic kidney disease","level":3,"score":0.46619099378585815},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.46547266840934753},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4255499839782715},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42365363240242004},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.38695913553237915},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3380579352378845},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.33046191930770874},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.2800830602645874},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24537399411201477},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.12245333194732666},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.08918708562850952}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","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":"D010375","descriptor_name":"Pedigree","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":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017044","descriptor_name":"Polycystic Kidney, Autosomal Recessive","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D017044","descriptor_name":"Polycystic Kidney, Autosomal Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017044","descriptor_name":"Polycystic Kidney, Autosomal Recessive","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s001090050221","doi":"https://doi.org/10.1007/s001090050221","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s001090050221","pdf_url":null,"source":{"id":"https://openalex.org/S114689480","display_name":"Journal of Molecular Medicine","issn_l":"0946-2716","issn":["0946-2716","1432-1440"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Molecular Medicine","raw_type":"journal-article"},{"id":"pmid:9587064","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9587064","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":"Journal of molecular medicine (Berlin, Germany)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W18268121","https://openalex.org/W95782458","https://openalex.org/W613893218","https://openalex.org/W1975786090","https://openalex.org/W1982473305","https://openalex.org/W1988651790","https://openalex.org/W1997864442","https://openalex.org/W2009137611","https://openalex.org/W2017428806","https://openalex.org/W2019049688","https://openalex.org/W2022657931","https://openalex.org/W2025569592","https://openalex.org/W2029871205","https://openalex.org/W2045518675","https://openalex.org/W2070891976","https://openalex.org/W2081531459","https://openalex.org/W2083007990","https://openalex.org/W2085199959","https://openalex.org/W2090567095","https://openalex.org/W2111426248","https://openalex.org/W2112810226","https://openalex.org/W2127688618","https://openalex.org/W2148969966","https://openalex.org/W2161090013","https://openalex.org/W2414551224","https://openalex.org/W2417381705","https://openalex.org/W2461403197","https://openalex.org/W2940980114","https://openalex.org/W4300179138"],"related_works":["https://openalex.org/W1568706542","https://openalex.org/W198638194","https://openalex.org/W2399338913","https://openalex.org/W2003779267","https://openalex.org/W7096670823","https://openalex.org/W2761303993","https://openalex.org/W2429102992","https://openalex.org/W1946738920","https://openalex.org/W2077073070","https://openalex.org/W2012757753"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
