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Essential genetic findings in neurodevelopmental disorders

2019-07-09Journal article Open access
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dc.contributor.authorCardoso, Ana R.
dc.contributor.authorLopes-Marques, Mónica
dc.contributor.authorSilva, Raquel M.
dc.contributor.authorSerrano, Catarina
dc.contributor.authorAmorim, António
dc.contributor.authorPrata, Maria J.
dc.contributor.authorAzevedo, Luísa
dc.date.accessioned2021-04-16T14:22:16Z
dc.date.available2021-04-16T14:22:16Z
dc.date.issued2019-07-09
dc.description.abstractNeurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1186/s40246-019-0216-4pt_PT
dc.identifier.eid85069323998
dc.identifier.issn1473-9542
dc.identifier.pmcPMC6617629
dc.identifier.pmid31288856
dc.identifier.urihttp://hdl.handle.net/10400.14/32673
dc.identifier.wos000475597300001
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectBrain-related genespt_PT
dc.subjectDe novo mutationspt_PT
dc.subjectDeleterious mutationspt_PT
dc.subjectGene interactionpt_PT
dc.subjectNeurodevelopmental disorderspt_PT
dc.subjectPolymorphismspt_PT
dc.subjectRisk allelespt_PT
dc.titleEssential genetic findings in neurodevelopmental disorderspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.titleHuman Genomicspt_PT
oaire.citation.volume13pt_PT
person.familyNameLopes-Marques
person.familyNameSilva
person.familyNameAmorim
person.familyNamePrata
person.familyNameAzevedo
person.givenNameMónica
person.givenNameRaquel
person.givenNameAntonio
person.givenNameMaria João
person.givenNameLuisa
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person.identifier.ridF-9930-2011
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person.identifier.ridJ-4051-2013
person.identifier.scopus-author-id54987323000
person.identifier.scopus-author-id55209561400
person.identifier.scopus-author-id7006426820
person.identifier.scopus-author-id7005272867
person.identifier.scopus-author-id7005936820
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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