{"id":"https://openalex.org/W78657566","doi":null,"title":"Clinical and Genetic Studies in Inherited Cardiovascular Malformations","display_name":"Clinical and Genetic Studies in Inherited Cardiovascular Malformations","publication_year":2006,"publication_date":"2006-06-01","ids":{"openalex":"https://openalex.org/W78657566","mag":"78657566"},"language":"en","primary_location":{"id":"mag:78657566","doi":null,"is_oa":false,"landing_page_url":"https://repub.eur.nl/pub/32765/120627_Laar,%20Ingrid%20Maria%20Bernadetta%20Henrica%20van%20de.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5078255826","display_name":"Ingrid M.B.H. van de Laar","orcid":"https://orcid.org/0000-0002-2523-1230","observed_orcids":["https://orcid.org/0000-0002-2523-1230"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ingrid M.B.H. van de Laar","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2523-1230","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5078255826"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00656119,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11677","display_name":"Congenital heart defects research","score":0.5889000296592712,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11677","display_name":"Congenital heart defects research","score":0.5889000296592712,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10300","display_name":"Congenital Heart Disease Studies","score":0.13459999859333038,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.04179999977350235,"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/congenital-heart-disease","display_name":"congenital heart disease","score":0.972000002861023},{"id":"https://openalex.org/keywords/aortic-aneurysm","display_name":"aortic aneurysm","score":0.9810000061988831},{"id":"https://openalex.org/keywords/susceptibility-genes","display_name":"susceptibility genes","score":0.6259999871253967},{"id":"https://openalex.org/keywords/multifactorial-inheritance","display_name":"multifactorial inheritance","score":0.9430000185966492},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.8799999952316284},{"id":"https://openalex.org/keywords/single-gene-mutations","display_name":"single-gene mutations","score":0.8510000109672546},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.3840000033378601}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6599613428115845},{"id":"https://openalex.org/C3019607859","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital malformations","level":3,"score":0.6456081867218018},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.46891292929649353},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.45658108592033386},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.43049266934394836},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.385722815990448},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.37372785806655884},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36195987462997437},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3118910789489746},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.23238855600357056},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21285805106163025},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.16487765312194824},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.14649313688278198},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14063572883605957}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:78657566","doi":null,"is_oa":false,"landing_page_url":"https://repub.eur.nl/pub/32765/120627_Laar,%20Ingrid%20Maria%20Bernadetta%20Henrica%20van%20de.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":276,"referenced_works":["https://openalex.org/W31530435","https://openalex.org/W46448192","https://openalex.org/W79708563","https://openalex.org/W146830650","https://openalex.org/W341162394","https://openalex.org/W378110910","https://openalex.org/W1480816628","https://openalex.org/W1481913624","https://openalex.org/W1506409704","https://openalex.org/W1509578353","https://openalex.org/W1511739115","https://openalex.org/W1522393141","https://openalex.org/W1534026166","https://openalex.org/W1538090902","https://openalex.org/W1546430010","https://openalex.org/W1556198965","https://openalex.org/W1558981666","https://openalex.org/W1674167019","https://openalex.org/W1693754698","https://openalex.org/W1855236015","https://openalex.org/W1897269170","https://openalex.org/W1930152646","https://openalex.org/W1944778414","https://openalex.org/W1955361826","https://openalex.org/W1955467086","https://openalex.org/W1960983795","https://openalex.org/W1964882417","https://openalex.org/W1965088640","https://openalex.org/W1967057044","https://openalex.org/W1968304646","https://openalex.org/W1969212379","https://openalex.org/W1969644976","https://openalex.org/W1971462660","https://openalex.org/W1972031538","https://openalex.org/W1972952083","https://openalex.org/W1974122593","https://openalex.org/W1974723367","https://openalex.org/W1975236596","https://openalex.org/W1976328524","https://openalex.org/W1979307449","https://openalex.org/W1979522701","https://openalex.org/W1982486040","https://openalex.org/W1983052481","https://openalex.org/W1983571130","https://openalex.org/W1984751116","https://openalex.org/W1985135831","https://openalex.org/W1987279648","https://openalex.org/W1987934154","https://openalex.org/W1988173672","https://openalex.org/W1989457690","https://openalex.org/W1989736688","https://openalex.org/W1990065388","https://openalex.org/W1990414447","https://openalex.org/W1990652514","https://openalex.org/W1991630907","https://openalex.org/W1991888662","https://openalex.org/W1992468405","https://openalex.org/W1995235432","https://openalex.org/W1995449555","https://openalex.org/W1995651227","https://openalex.org/W1996224832","https://openalex.org/W1996374600","https://openalex.org/W1996445467","https://openalex.org/W1998099976","https://openalex.org/W1998123371","https://openalex.org/W1999275474","https://openalex.org/W2000830488","https://openalex.org/W2001271693","https://openalex.org/W2002378645","https://openalex.org/W2002491526","https://openalex.org/W2003260901","https://openalex.org/W2003458093","https://openalex.org/W2003734939","https://openalex.org/W2004440955","https://openalex.org/W2006036905","https://openalex.org/W2006944088","https://openalex.org/W2007997489","https://openalex.org/W2010495618","https://openalex.org/W2010660184","https://openalex.org/W2011196754","https://openalex.org/W2011449678","https://openalex.org/W2011838341","https://openalex.org/W2012409690","https://openalex.org/W2012517517","https://openalex.org/W2013234809","https://openalex.org/W2013355993","https://openalex.org/W2014417177","https://openalex.org/W2016637403","https://openalex.org/W2017204222","https://openalex.org/W2017292441","https://openalex.org/W2017409538","https://openalex.org/W2017527902","https://openalex.org/W2019467896","https://openalex.org/W2023044142","https://openalex.org/W2023371427","https://openalex.org/W2024154181","https://openalex.org/W2026441411","https://openalex.org/W2027966493","https://openalex.org/W2028815728","https://openalex.org/W2029022250","https://openalex.org/W2029654767","https://openalex.org/W2030221189","https://openalex.org/W2031312747","https://openalex.org/W2032157641","https://openalex.org/W2032986583","https://openalex.org/W2035258786","https://openalex.org/W2035630676","https://openalex.org/W2035761608","https://openalex.org/W2035938509","https://openalex.org/W2036299862","https://openalex.org/W2036536804","https://openalex.org/W2037472897","https://openalex.org/W2037665181","https://openalex.org/W2038136158","https://openalex.org/W2038629624","https://openalex.org/W2039177386","https://openalex.org/W2040686597","https://openalex.org/W2042293234","https://openalex.org/W2045123237","https://openalex.org/W2046778872","https://openalex.org/W2047254900","https://openalex.org/W2047575279","https://openalex.org/W2048818063","https://openalex.org/W2049335442","https://openalex.org/W2051041752","https://openalex.org/W2053146170","https://openalex.org/W2053670627","https://openalex.org/W2053781137","https://openalex.org/W2053926321","https://openalex.org/W2054159263","https://openalex.org/W2054248890","https://openalex.org/W2054351373","https://openalex.org/W2055268224","https://openalex.org/W2056615811","https://openalex.org/W2057044649","https://openalex.org/W2057577830","https://openalex.org/W2058525645","https://openalex.org/W2058734183","https://openalex.org/W2059027048","https://openalex.org/W2059044043","https://openalex.org/W2059599014","https://openalex.org/W2060249915","https://openalex.org/W2061471122","https://openalex.org/W2061992468","https://openalex.org/W2062106375","https://openalex.org/W2062419041","https://openalex.org/W2063177042","https://openalex.org/W2064659330","https://openalex.org/W2064680730","https://openalex.org/W2066154181","https://openalex.org/W2067354658","https://openalex.org/W2067997771","https://openalex.org/W2072785272","https://openalex.org/W2076794614","https://openalex.org/W2076890216","https://openalex.org/W2078475439","https://openalex.org/W2079696204","https://openalex.org/W2079738970","https://openalex.org/W2081346113","https://openalex.org/W2081983661","https://openalex.org/W2082432121","https://openalex.org/W2083904901","https://openalex.org/W2084213288","https://openalex.org/W2084551568","https://openalex.org/W2085026002","https://openalex.org/W2085220892","https://openalex.org/W2086782664","https://openalex.org/W2087571343","https://openalex.org/W2089798072","https://openalex.org/W2090874638","https://openalex.org/W2091898440","https://openalex.org/W2093051724","https://openalex.org/W2093743888","https://openalex.org/W2093938367","https://openalex.org/W2095165947","https://openalex.org/W2095605427","https://openalex.org/W2095635019","https://openalex.org/W2099099776","https://openalex.org/W2099413049","https://openalex.org/W2099473196","https://openalex.org/W2100868134","https://openalex.org/W2102495832","https://openalex.org/W2103023325","https://openalex.org/W2104065792","https://openalex.org/W2104410652","https://openalex.org/W2104921070","https://openalex.org/W2105481868","https://openalex.org/W2107141327","https://openalex.org/W2107427447","https://openalex.org/W2107933798","https://openalex.org/W2111602420","https://openalex.org/W2112556490","https://openalex.org/W2112887261","https://openalex.org/W2113347813","https://openalex.org/W2113726385","https://openalex.org/W2113753477","https://openalex.org/W2114115666","https://openalex.org/W2114232003","https://openalex.org/W2114408926","https://openalex.org/W2115221505","https://openalex.org/W2115804709","https://openalex.org/W2116087542","https://openalex.org/W2116091611","https://openalex.org/W2120707690","https://openalex.org/W2121442685","https://openalex.org/W2121842052","https://openalex.org/W2122276614","https://openalex.org/W2122588714","https://openalex.org/W2123296071","https://openalex.org/W2123478725","https://openalex.org/W2124339973","https://openalex.org/W2126618234","https://openalex.org/W2127387556","https://openalex.org/W2128265565","https://openalex.org/W2128466784","https://openalex.org/W2128818346","https://openalex.org/W2128831381","https://openalex.org/W2129300074","https://openalex.org/W2129317308","https://openalex.org/W2130239422","https://openalex.org/W2131202416","https://openalex.org/W2131464048","https://openalex.org/W2132717858","https://openalex.org/W2134024560","https://openalex.org/W2134631111","https://openalex.org/W2135298499","https://openalex.org/W2137009239","https://openalex.org/W2137058559","https://openalex.org/W2138209376","https://openalex.org/W2141092461","https://openalex.org/W2141555603","https://openalex.org/W2144101811","https://openalex.org/W2145897785","https://openalex.org/W2145958616","https://openalex.org/W2146859386","https://openalex.org/W2146979392","https://openalex.org/W2147248889","https://openalex.org/W2147283478","https://openalex.org/W2147696074","https://openalex.org/W2147750283","https://openalex.org/W2149223832","https://openalex.org/W2150043501","https://openalex.org/W2150861078","https://openalex.org/W2151507113","https://openalex.org/W2152228240","https://openalex.org/W2152350731","https://openalex.org/W2152745568","https://openalex.org/W2153327409","https://openalex.org/W2153707891","https://openalex.org/W2154261437","https://openalex.org/W2156375367","https://openalex.org/W2156668848","https://openalex.org/W2157244334","https://openalex.org/W2162377106","https://openalex.org/W2163035368","https://openalex.org/W2164507093","https://openalex.org/W2164602163","https://openalex.org/W2166336101","https://openalex.org/W2167036751","https://openalex.org/W2167773905","https://openalex.org/W2167808312","https://openalex.org/W2167903579","https://openalex.org/W2167966527","https://openalex.org/W2169144612","https://openalex.org/W2169962597","https://openalex.org/W2170474645","https://openalex.org/W2170572248","https://openalex.org/W2171116570","https://openalex.org/W2171502387","https://openalex.org/W2233136991","https://openalex.org/W2308556689","https://openalex.org/W2313594428","https://openalex.org/W2317397529","https://openalex.org/W2405359183","https://openalex.org/W2409406246","https://openalex.org/W2577126958"],"related_works":["https://openalex.org/W2473501722","https://openalex.org/W2079771882","https://openalex.org/W7096538248","https://openalex.org/W2295219003","https://openalex.org/W2551951860","https://openalex.org/W2164363246","https://openalex.org/W2098867003","https://openalex.org/W2000548479","https://openalex.org/W2018360771","https://openalex.org/W2146819285"],"abstract_inverted_index":{"textabstractCardiovascular":[0],"malformations":[1,16,43,63],"comprise":[2],"a":[3,45,72,138],"broad":[4],"spectrum":[5],"of":[6,8,24,41,74,97,135,149,169,184],"anomalies":[7],"the":[9,20,60,86,95,123,150,167,181],"heart\r\nand":[10],"blood":[11],"vessels,":[12],"including":[13],"congenital":[14],"heart":[15],"(CHM)":[17],"and":[18,32,37,55,82,110,114,116,133,174],"aortic\r\naneurysms,":[19],"two":[21],"main":[22],"topics":[23],"this":[25,162],"thesis.":[26],"These":[27],"conditions":[28],"lead":[29],"to":[30,66,69,106,122,130,179],"significant\r\nmorbidity":[31],"mortality":[33],"both":[34],"in":[35,76,94,99,128,145,154,161],"infancy":[36],"adulthood.\r\nA":[38],"substantial":[39],"proportion":[40],"cardiovascular":[42,100,185],"have":[44],"genetic":[46,182],"background,\r\nincluding":[47],"large":[48],"chromosomal":[49],"abnormalities,":[50],"submicroscopic":[51],"chromosome\r\ndeletions":[52],"or":[53],"duplications,":[54],"single":[56],"gene":[57],"mutations.":[58],"However,":[59],"majority":[61],"of\r\ncardiovascular":[62],"is":[64],"thought":[65],"be":[67],"due":[68],"multifactorial":[70],"inheritance,\r\ninvolving":[71],"multitude":[73],"mutations":[75],"susceptibility":[77],"genes":[78],"superposed":[79],"on":[80],"unfavorable\r\nenvironmental":[81],"life":[83],"style":[84],"factors.\r\nIn":[85],"past":[87],"decade,":[88],"great":[89],"progress":[90],"has":[91,142],"been":[92,143],"made":[93,103],"unravelling":[96],"genes\r\ninvolved":[98],"malformations.":[101,186],"This":[102],"it":[104],"possible":[105],"understand":[107,180],"the\r\ngenetic":[108],"pathways":[109],"underlying":[111],"pathophysiologic":[112],"mechanisms,":[113],"develop\r\ntherapeutic":[115],"preventive":[117],"measures.":[118],"It":[119],"also":[120],"led":[121],"need":[124],"for":[125],"multidisciplinary\r\ncardiogenetic":[126],"clinics":[127],"order":[129],"improve":[131],"diagnosis":[132],"treatment":[134],"cardiovascular\r\ndiseases.":[136],"Such":[137],"multidisciplinary":[139],"cardiogenetic":[140],"clinic":[141],"established":[144],"the\r\n(Paediatric)":[146],"Cardiology":[147],"Department":[148],"Erasmus":[151],"Medical":[152],"Center":[153],"Rotterdam.":[155],"In\r\nthis":[156],"setting":[157],"most":[158],"patients":[159],"described":[160],"thesis":[163],"were":[164],"studied.":[165],"With":[166],"enthusiastic\r\nparticipation":[168],"these":[170],"patients,":[171],"their":[172],"families":[173],"physicians,":[175],"scientific":[176],"studies":[177],"were\r\ninitiated":[178],"cause":[183]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2016-06-24T00:00:00"}
