{"id":"https://openalex.org/W4289547686","doi":null,"title":"Int\u00e9r\u00eat de l\u2019analyse chromosomique sur puce \u00e0 ADN en cas de blocage de maturation m\u00e9iotique testiculaire","display_name":"Int\u00e9r\u00eat de l\u2019analyse chromosomique sur puce \u00e0 ADN en cas de blocage de maturation m\u00e9iotique testiculaire","publication_year":2018,"publication_date":"2018-09-12","ids":{"openalex":"https://openalex.org/W4289547686"},"language":"fr","primary_location":{"id":"pmh:oai:HAL:hal-02790273v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.inrae.fr/hal-02790273","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.alphavisa.com/atc-aclf/2018/","raw_type":"info:eu-repo/semantics/conferenceObject"},"volume":null,"type":"conference-paper","indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://hal.inrae.fr/hal-02790273","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074702909","display_name":"Farah Ghieh","orcid":"https://orcid.org/0000-0001-6454-2165","observed_orcids":["https://orcid.org/0000-0001-6454-2165"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ghieh, Farah","raw_affiliation_strings":["Gam\u00e8tes, implantation, gestation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gam\u00e8tes, implantation, gestation","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107390890","display_name":"Valerie A. Mitchell","orcid":"https://orcid.org/0000-0003-4521-6932","observed_orcids":["https://orcid.org/0000-0003-4521-6932"]},"institutions":[{"id":"https://openalex.org/I4210109121","display_name":"Centre Hospitalier Intercommunal de Poissy","ror":"https://ror.org/015qy8r18","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210109121"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mitchell, Val\u00e9rie","raw_affiliation_strings":["Centre Hospitalier iItercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre Hospitalier iItercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy]","institution_ids":["https://openalex.org/I4210109121"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022341120","display_name":"M. Bailly","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210109121","display_name":"Centre Hospitalier Intercommunal de Poissy","ror":"https://ror.org/015qy8r18","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210109121"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Bailly, Marc","raw_affiliation_strings":["D\u00e9partement de biologie de la reproduction et de gyn\u00e9cologie [CHIPS, Poissy]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de biologie de la reproduction et de gyn\u00e9cologie [CHIPS, Poissy]","institution_ids":["https://openalex.org/I4210109121"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015235924","display_name":"Vincent Izard","orcid":"https://orcid.org/0000-0002-1963-2599","observed_orcids":["https://orcid.org/0000-0002-1963-2599"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Izard, Vincent","raw_affiliation_strings":["Service d'Urologie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Urologie","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062161352","display_name":"B\u00e9atrice Mandon\u2010Pepin","orcid":"https://orcid.org/0000-0002-5424-0822","observed_orcids":["https://orcid.org/0000-0002-5424-0822"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mandon-Pepin, B\u00e9atrice","raw_affiliation_strings":["Biologie du D\u00e9veloppement et Reproduction"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biologie du D\u00e9veloppement et Reproduction","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024549593","display_name":"Fran\u00e7ois Vialard","orcid":"https://orcid.org/0000-0002-5774-2756","observed_orcids":["https://orcid.org/0000-0002-5774-2756"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vialard, Fran\u00e7ois","raw_affiliation_strings":["F\u00e9d\u00e9ration de G\u00e9n\u00e9tique","Gam\u00e8tes, implantation, gestation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique","institution_ids":[]},{"raw_affiliation_string":"Gam\u00e8tes, implantation, gestation","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.47692308,"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/T10116","display_name":"Sperm and Testicular Function","score":0.9330999851226807,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/T10116","display_name":"Sperm and Testicular Function","score":0.9330999851226807,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive 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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.03280000016093254,"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/T10364","display_name":"Reproductive Biology and Fertility","score":0.006399999838322401,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational 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/male-infertility","display_name":"male infertility","score":0.8930000066757202},{"id":"https://openalex.org/keywords/meiotic-arrest","display_name":"meiotic arrest","score":0.5320000052452087}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3491464853286743}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:HAL:hal-02790273v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.inrae.fr/hal-02790273","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.alphavisa.com/atc-aclf/2018/","raw_type":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":{"id":"pmh:oai:HAL:hal-02790273v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.inrae.fr/hal-02790273","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://www.alphavisa.com/atc-aclf/2018/","raw_type":"info:eu-repo/semantics/conferenceObject"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7151068402","https://openalex.org/W7214266516","https://openalex.org/W3201340154","https://openalex.org/W2001645551","https://openalex.org/W4283118534","https://openalex.org/W4386856245","https://openalex.org/W3019045726","https://openalex.org/W4393035417","https://openalex.org/W3121945118","https://openalex.org/W2064738323"],"abstract_inverted_index":{"Introduction":[0],":":[1,20,106,137,212],"L'azoospermie,":[2],"d\u00e9finie":[3],"par":[4,22,31,148],"l'absence":[5],"de":[6,33,47,63,68,88,92,101,109,157,159,201,221,232,247,249,253,267,281],"spermatozo\u00efdes":[7],"dans":[8,71,124,184,216,228,278],"l\u2019\u00e9jaculat,":[9],"affecte":[10],"environ":[11,72],"1%":[12],"des":[13,24,42,59,74,77,152,226,265],"hommes.":[14],"On":[15],"d\u00e9finit":[16],"2":[17],"types":[18],"d\u2019azoospermie":[19],"l\u2019obstructive,":[21],"blocage":[23,272],"voies":[25],"\u00e9jaculatrices,":[26],"et":[27,54,104,115,161,174,259],"la":[28,34,196,245,276],"non-obstructive":[29],"(NOA),":[30],"d\u00e9faut":[32],"spermatogen\u00e8se.":[35],"Les":[36,213,238],"causes":[37],"g\u00e9n\u00e9tiques":[38],"connues":[39],"\u00e0":[40,98,269],"l\u2019origine":[41,99],"NOA":[43,64],"sont":[44],"le":[45,229],"syndrome":[46],"Klinefelter,":[48],"les":[49,55,162,179,185,235,260],"microd\u00e9l\u00e9tions":[50],"du":[51,79,118,205],"chromosome":[52,119],"Y,":[53,120],"remaniements":[56],"chromosomiques":[57],"(20%":[58],"NOA).":[60],"Diff\u00e9rents":[61],"ph\u00e9notypes":[62],"existent":[65],"dont":[66,171,190],"l\u2019arr\u00eat":[67,254],"maturation":[69,233],"testiculaire":[70],"5%":[73],"cas":[75],"o\u00f9":[76],"d\u00e9l\u00e9tions":[78,239,261],"g\u00e8ne":[80,206],"TEX11":[81,207],"ont":[82,121,142,167,187],"\u00e9t\u00e9":[83,122,134,143,169,188,209],"d\u00e9crites":[84],"comme":[85],"r\u00e9currentes.":[86],"L\u2019objectif":[87],"ce":[89],"travail":[90],"est":[91],"savoir":[93],"si":[94],"d\u2019autres":[95],"CNVs":[96,141,153,163,166,176,227],"pourraient":[97,243,263],"d\u2019arr\u00eat":[100,231],"maturation.":[102,202],"Mat\u00e9riel":[103],"m\u00e9thode":[105],"Une":[107,127],"cohorte":[108,280],"20":[110,285],"patients,":[111],"avec":[112],"caryotype":[113],"normal":[114],"sans":[116],"microd\u00e9l\u00e9tion":[117],"inclus":[123],"cette":[125,217],"\u00e9tude.":[126],"puce":[128],"Agilent":[129],"Genetisure":[130],"400k":[131],"CGH+SNP":[132],"a":[133],"utilis\u00e9e.":[135],"R\u00e9sultats":[136],"Au":[138],"total,":[139],"989":[140],"identifi\u00e9s":[144],"(49":[145],"\u00b1":[146],"12":[147],"patient).":[149],"Apr\u00e8s":[150],"\u00e9limination":[151],"dus":[154],"aux":[155],"variations":[156],"l\u2019ADN":[158],"r\u00e9f\u00e9rence":[160],"r\u00e9currents,":[164],"236":[165],"alors":[168],"retenus,":[170],"56":[172],"nullosomies":[173,242],"180":[175],"h\u00e9t\u00e9rozygotes.":[177],"Parmi":[178],"nullosomies,":[180],"deux":[181],"g\u00e8nes":[182,250],"surexprim\u00e9s":[183],"testicules":[186],"identifi\u00e9s,":[189],"un":[191,199,224],"pour":[192],"lequel":[193],"l\u2019invalidation":[194],"chez":[195,234,256],"souris":[197],"induit":[198],"arr\u00eat":[200],"Aucune":[203],"d\u00e9l\u00e9tion":[204],"n\u2019a":[208],"identifi\u00e9e.":[210],"Discussion-Conclusion":[211],"r\u00e9sultats":[214],"obtenus":[215],"\u00e9tude,":[218],"en":[219],"cours":[220],"validation,":[222],"sugg\u00e8rent":[223],"r\u00f4le":[225],"ph\u00e9notype":[230],"patients":[236,258,283],"NOA.":[237],"homozygotes":[240],"ou":[241],"entrainer":[244],"perte":[246],"l\u2019expression":[248],"candidats":[251],"responsables":[252],"m\u00e9iotique":[255],"certains":[257],"h\u00e9t\u00e9rozygotes,":[262],"\u00eatre":[264],"facteurs":[266],"pr\u00e9disposition":[268],"l\u2019apparition":[270],"d\u2019un":[271],"m\u00e9iotique.":[273],"A":[274],"noter":[275],"pr\u00e9sence":[277],"notre":[279],"6":[282],"sur":[284],"consanguins.":[286]},"counts_by_year":[],"updated_date":"2026-10-26T11:51:55.731654","created_date":"2022-08-03T00:00:00"}