{"id":"https://openalex.org/W192632398","doi":null,"title":"Hereditary renal adysplasia in a three generations family.","display_name":"Hereditary renal adysplasia in a three generations family.","publication_year":1999,"publication_date":"1999-01-01","ids":{"openalex":"https://openalex.org/W192632398","mag":"192632398","pmid":"https://pubmed.ncbi.nlm.nih.gov/10546096"},"language":"en","primary_location":{"id":"pmid:10546096","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10546096","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":"Genetic counseling (Geneva, Switzerland)","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":"https://openalex.org/A5017412176","display_name":"B\u00e9r\u00e9nice Doray","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210145324","display_name":"H\u00f4pitaux Universitaires de Strasbourg","ror":"https://ror.org/04bckew43","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"B Doray","raw_affiliation_strings":["Service de g\u00e9n\u00e9tique m\u00e9dicale, Centre Hospitalo-Universitaire, Strasbourg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de g\u00e9n\u00e9tique m\u00e9dicale, Centre Hospitalo-Universitaire, Strasbourg","institution_ids":["https://openalex.org/I4210145324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111660823","display_name":"B. Gasser","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Gasser","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"I Reinartz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Reinartz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"C Stoll","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Stoll","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":0.3473,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":{"value":0.58152572,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"10","issue":"3","first_page":"251","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12140","display_name":"Renal and related cancers","score":0.9409000277519226,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12140","display_name":"Renal and related cancers","score":0.9409000277519226,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11815","display_name":"Urological Disorders and Treatments","score":0.024700000882148743,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"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/T11174","display_name":"Pediatric Urology and Nephrology Studies","score":0.018300000578165054,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/renal-agenesis","display_name":"renal agenesis","score":0.9950000047683716},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9279999732971191},{"id":"https://openalex.org/keywords/multicystic-dysplastic-kidney","display_name":"multicystic dysplastic kidney","score":0.9440000057220459},{"id":"https://openalex.org/keywords/potter-syndrome","display_name":"Potter syndrome","score":0.5180000066757202},{"id":"https://openalex.org/keywords/oligohydramnios","display_name":"oligohydramnios","score":0.953000009059906},{"id":"https://openalex.org/keywords/prenatal-ultrasound","display_name":"prenatal ultrasound","score":0.7390000224113464},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.5429999828338623},{"id":"https://openalex.org/keywords/variable-expressivity","display_name":"variable expressivity","score":0.7329999804496765},{"id":"https://openalex.org/keywords/urinary-tract-anomalies","display_name":"urinary tract anomalies","score":0.6790000200271606}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8206503391265869},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7401134371757507},{"id":"https://openalex.org/C2781056747","wikidata":"https://www.wikidata.org/wiki/Q1144406","display_name":"Oligohydramnios","level":4,"score":0.7044373750686646},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.615642249584198},{"id":"https://openalex.org/C77411442","wikidata":"https://www.wikidata.org/wiki/Q181100","display_name":"Urinary system","level":2,"score":0.6120583415031433},{"id":"https://openalex.org/C2910137039","wikidata":"https://www.wikidata.org/wiki/Q6934642","display_name":"Renal dysplasia","level":3,"score":0.5791407823562622},{"id":"https://openalex.org/C2775908106","wikidata":"https://www.wikidata.org/wiki/Q1634033","display_name":"Horseshoe kidney","level":3,"score":0.4681834280490875},{"id":"https://openalex.org/C46973012","wikidata":"https://www.wikidata.org/wiki/Q28627","display_name":"Gestation","level":3,"score":0.45869842171669006},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.4386003911495209},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.4219604730606079},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.4083060324192047},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3517689108848572},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2927241921424866},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.07781773805618286},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.06102132797241211},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000028","descriptor_name":"Abortion, Induced","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D007674","descriptor_name":"Kidney Diseases","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:10546096","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10546096","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Case Reports"},{"id":"mag:192632398","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10546096","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":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W124114318","https://openalex.org/W1992780727","https://openalex.org/W1969232445","https://openalex.org/W2096201241","https://openalex.org/W2045857663","https://openalex.org/W2041865462","https://openalex.org/W2019501277","https://openalex.org/W2147020930","https://openalex.org/W2106446112","https://openalex.org/W1992291555"],"abstract_inverted_index":{"Renal":[0,10],"agenesia":[1,11,56,158,181,192],"is":[2,142,205],"one":[3],"of":[4,50,63,75,82,89,107,113,126,202],"the":[5,87,95,119,140,200],"more":[6,15],"common":[7],"urinary":[8,28,31],"malformations.":[9],"can":[12,21,193],"be":[13,22,194],"unilateral,":[14],"frequently,":[16],"or":[17,24],"bilateral.":[18],"This":[19,187],"malformation":[20],"isolated":[23],"present":[25],"with":[26,37,104],"other":[27],"and/or":[29],"extra":[30],"anomalies.":[32],"We":[33],"report":[34],"a":[35,43,53,58,127,149,155],"family":[36,188],"renal":[38,55,157,180,191],"agenesia.":[39],"The":[40,67,77,152,171],"proband":[41],"was":[42,92,102,132,160,169,183],"fetus.":[44],"Ultrasonographic":[45],"examination":[46,86],"at":[47,72],"15":[48],"weeks":[49,74],"gestation":[51],"showed":[52],"left":[54,90],"and":[57,65,115,175,198],"right":[59,96],"multicystic":[60],"kidney,":[61],"absence":[62,88],"bladder":[64],"oligohydramnios.":[66],"same":[68],"features":[69],"were":[70],"found":[71],"19":[73],"gestation.":[76],"couple":[78],"asked":[79],"for":[80],"termination":[81],"pregnancy.":[83],"On":[84],"pathologic":[85],"kidney":[91,97],"confirmed":[93],"whereas":[94],"which":[98,159,182],"measured":[99],"3.5":[100],"cm":[101,109],"filled":[103],"numerous":[105],"cysts":[106],"0.2":[108],"to":[110,118],"1":[111],"cm.":[112],"diameter":[114],"fibrosis.":[116,135],"According":[117],"Potter's":[120],"classification":[121],"these":[122],"images":[123],"are":[124],"characteristic":[125],"dysplasia":[128],"type":[129],"II.":[130],"There":[131],"no":[133],"hepatic":[134],"Family":[136],"history":[137],"revealed":[138],"that":[139,190,199],"mother":[141],"in":[143],"good":[144],"health,":[145],"she":[146],"had":[147,154,164,178],"previously":[148],"normal":[150],"son.":[151],"father":[153,174],"unilateral":[156,179],"diagnosed":[161],"after":[162],"he":[163,168],"arterial":[165],"hypertension":[166],"when":[167],"25-years-old.":[170],"paternal":[172],"grand":[173],"his":[176],"brother":[177],"shown":[184],"by":[185],"screening.":[186],"shows":[189],"autosomal":[195],"dominantly":[196],"inherited":[197],"expressivity":[201],"this":[203],"anomaly":[204],"variable.":[206]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
