{"id":"https://openalex.org/W356453586","doi":null,"title":"Ob\u00e9sit\u00e9 syndromique - syndrome MOMO - et translocation r\u00e9ciproque homozygote t(16;20)(q21;p11. 23) : caract\u00e9risation des points de cassure et recherche de g\u00e8nes","display_name":"Ob\u00e9sit\u00e9 syndromique - syndrome MOMO - et translocation r\u00e9ciproque homozygote t(16;20)(q21;p11. 23) : caract\u00e9risation des points de cassure et recherche de g\u00e8nes","publication_year":2007,"publication_date":"2007-01-01","ids":{"openalex":"https://openalex.org/W356453586","mag":"356453586"},"language":"fr","primary_location":{"id":"pmh:hdl:10068/810173","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10068/810173","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},"volume":null,"type":"dissertation","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/A5111689457","display_name":"Phi Yen Vu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Phi Yen Vu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5111689457"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","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/T11213","display_name":"Genomic variations and chromosomal abnormalities","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/T11642","display_name":"Genomics and Rare Diseases","score":0.00989999994635582,"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/T11928","display_name":"Genetic Syndromes and Imprinting","score":0.0015999999595806003,"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/syndromic-obesity","display_name":"syndromic obesity","score":0.8289999961853027},{"id":"https://openalex.org/keywords/balanced-translocation","display_name":"balanced translocation","score":0.6539999842643738},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8379999995231628},{"id":"https://openalex.org/keywords/breakpoint-mapping","display_name":"breakpoint mapping","score":0.6830000281333923},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.6779999732971191},{"id":"https://openalex.org/keywords/macrosomia","display_name":"macrosomia","score":0.7279999852180481},{"id":"https://openalex.org/keywords/hyperphagia","display_name":"hyperphagia","score":0.8679999709129333},{"id":"https://openalex.org/keywords/nkx2-2","display_name":"Nkx2.2","score":0.753000020980835},{"id":"https://openalex.org/keywords/foxa2","display_name":"FOXA2","score":0.9829999804496765},{"id":"https://openalex.org/keywords/cdh8","display_name":"CDH8","score":0.9200000166893005}],"concepts":[{"id":"https://openalex.org/C2909208804","wikidata":"https://www.wikidata.org/wiki/Q127282","display_name":"Fish <Actinopterygii>","level":2,"score":0.4644154906272888},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.4418613910675049},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.351608008146286},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31181883811950684},{"id":"https://openalex.org/C505870484","wikidata":"https://www.wikidata.org/wiki/Q180538","display_name":"Fishery","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:hdl:10068/810173","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10068/810173","pdf_url":null,"source":{"id":"https://openalex.org/S4377196900","display_name":"OpenGrey (Institut de l'Information Scientifique et Technique)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1295345811","host_organization_name":"Institut de l'Information Scientifique et Technique","host_organization_lineage":["https://openalex.org/I1295345811"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"U - Thesis"},{"id":"mag:356453586","doi":null,"is_oa":false,"landing_page_url":"http://www.theses.fr/2007TOUR3325","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":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7067622595","https://openalex.org/W1848884236","https://openalex.org/W2026745738","https://openalex.org/W395671705","https://openalex.org/W95422061","https://openalex.org/W2315623593","https://openalex.org/W186494744","https://openalex.org/W2147746291","https://openalex.org/W6979914624","https://openalex.org/W2533963605"],"abstract_inverted_index":{"Il":[0],"existe":[1],"un":[2,13,29,54,58,70,89,133],"grand":[3],"nombre":[4],"de":[5,65,76,80,87,100,109,129],"syndromes":[6],"g\u00e9n\u00e9tiques":[7],"dans":[8,92],"lesquels":[9],"l":[10,50,67],"ob\u00e9sit\u00e9":[11,36],"repr\u00e9sente":[12],"des":[14],"crit\u00e8res":[15],"diagnostiques":[16],"les":[17,98],"plus":[18],"importants.":[19],"Le":[20],"syndrome":[21,30,59],"MOMO":[22],"(Macrosomia,":[23],"Obesity,":[24],"Macrocephaly,":[25],"Ocular":[26],"Abnormalities)":[27],"est":[28],"ayant":[31],"comme":[32],"signe":[33],"majeur":[34],"une":[35,44,127],"morbide":[37],"avec":[38],"probable":[39],"hyperphagie.":[40],"Nous":[41,95],"avons":[42,96],"identifi\u00e9":[43],"translocation":[45],"r\u00e9ciproque":[46],"\u00e9quilibr\u00e9e":[47],"h\u00e9rit\u00e9e":[48],"\u00e0":[49],"\u00e9tat":[51],"homozygote":[52],"chez":[53,122],"patient":[55,124],"porteur":[56],"d":[57,69,132],"MOMO.":[60],"Cette":[61],"observation":[62],"exceptionnelle":[63],"permet":[64],"poser":[66],"hypoth\u00e8se":[68],"mode":[71],"h\u00e9r\u00e9ditaire":[72],"autosomique":[73],"r\u00e9cessif":[74],"et":[75,84,105,117,125],"localiser":[77],"deux":[78],"points":[79,99],"cassure":[81,101],"en":[82],"16q21":[83],"20p11.23":[85],"susceptibles":[86],"poss\u00e9der":[88],"g\u00e8ne":[90],"impliqu\u00e9":[91],"ce":[93,123],"syndrome.":[94],"caract\u00e9ris\u00e9":[97],"par":[102],"FISH,":[103],"LR-PCR":[104],"s\u00e9quen\u00e7age.":[106],"La":[107],"responsabilit\u00e9":[108],"cinq":[110],"g\u00e8nes":[111],"candidats,":[112],"RP5-872K7.2,":[113],"NKX2-2,":[114],"FOXA2,":[115],"CDH8":[116],"C20ORF19":[118],"a":[119],"\u00e9t\u00e9":[120],"investigu\u00e9e":[121],"sur":[126],"cohorte":[128],"sujets":[130],"porteurs":[131],"ph\u00e9notype":[134],"compatible.":[135]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}