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Monogenic obesity in Portugal: the use of next generation sequencing (preliminary results)

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dc.contributor.authorBrito, Miguel
dc.contributor.authorSerrasqueiro, Bernardo
dc.contributor.authorVeiga, Luísa
dc.contributor.authorSilva-Nunes, José
dc.date.accessioned2018-10-31T14:40:57Z
dc.date.available2018-10-31T14:40:57Z
dc.date.issued2018-10
dc.descriptionIDI&CA IPL/2017/GenetObese_ESTeSLpt_PT
dc.description.abstractObesity arises from a complex interaction between genetic variance, environment, and lifestyle changes, and has become a major public health problem as a result of its increasing prevalence in most developed countries. Several genes have been implicated in obesity, namely ADRB1, ADRB2, ADRB3, BDNF, FTO; IGF2, IGF2R, LEP, LEPR, LRP2, MC1R; MC2R; MC3R; MC4R; NEGR1, NPY, NPY2R; NPY1R; NTRK2, PCSK1, POMC; SH2B1; SIM1; SLC6A14; SORCS1; UCP1; UCP2; UCP3. All these genes have mutations associated with monogenic obesity. The aim of the study - We aimed to investigate the presence of mutations in the mentioned genes in a Portuguese population with obesity using an enrichment method and all exome sequencing.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBrito M, Serrasqueiro B, Veiga L, Silva-Nunes J. Monogenic obesity in Portugal: the use of next generation sequencing (preliminary results). In: 5th Genomic Medicine 2018 Nordic Conference, Odense University Hospital (Denmark), October 2-3, 2018.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/8992
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://biotexcel.com/event/genomic-medicine-2018-nordic/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectObesitypt_PT
dc.subjectGenetic mutationpt_PT
dc.subjectMonogenic obesitypt_PT
dc.subjectPortugalpt_PT
dc.subjectIPL/2017/GenetObese_ESTeSLpt_PT
dc.subjectIDI&CA 2017pt_PT
dc.titleMonogenic obesity in Portugal: the use of next generation sequencing (preliminary results)pt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceOdensept_PT
person.familyNameBrito
person.familyNameVeiga
person.givenNameMiguel
person.givenNameLuisa
person.identifier.ciencia-id231F-F341-7E93
person.identifier.ciencia-id9413-918D-DB0E
person.identifier.orcid0000-0001-6394-658X
person.identifier.orcid0000-0003-1153-8343
person.identifier.ridA-7970-2016
person.identifier.ridL-2730-2013
person.identifier.scopus-author-id35224551000
person.identifier.scopus-author-id8318978600
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublicationaac1914a-275f-4be2-819d-ab41d356b45a
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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