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https://hdl.handle.net/1822/67899
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Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Henriques-Coelho, Tiago | por |
dc.contributor.author | Oliva-Teles, Natália | por |
dc.contributor.author | Fonseca-Silva, M. Luz | por |
dc.contributor.author | Tibboel, Dick | por |
dc.contributor.author | Guimarães, Hercília | por |
dc.contributor.author | Correia-Pinto, Jorge | por |
dc.date.accessioned | 2020-10-29T17:29:36Z | - |
dc.date.available | 2020-10-29T17:29:36Z | - |
dc.date.issued | 2005-10 | - |
dc.identifier.citation | Henriques-Coelho, T., Oliva-Teles, N., Fonseca-Silva, M. L., Tibboel, D., et. al. (2005). Congenital diaphragmatic hernia in a patient with tetrasomy 9p. Journal of pediatric surgery, 40(10), e29-e31 | por |
dc.identifier.issn | 0022-3468 | - |
dc.identifier.uri | https://hdl.handle.net/1822/67899 | - |
dc.description.abstract | Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm: 47, XX, +i (9p). Because chromosome 9 contains several gene locus for enzymes and receptors of the retinoid pathway, this case potentially contributes to retinoid hypothesis in the etiology of congenital diaphragmatic hernia. | por |
dc.language.iso | eng | por |
dc.publisher | Elsevier 1 | por |
dc.rights | openAccess | por |
dc.subject | Adult | por |
dc.subject | Chromosome Disorders | por |
dc.subject | Female | por |
dc.subject | Hernia, Diaphragmatic | por |
dc.subject | Humans | por |
dc.subject | Karyotyping | por |
dc.subject | Chromosomes, Human, Pair 9 | por |
dc.subject | Hernias, Diaphragmatic, Congenital | por |
dc.subject | Tetrasomy 9p | por |
dc.subject | Isochromosome | por |
dc.subject | Congenital diaphragmatic hernia | por |
dc.title | Congenital diaphragmatic hernia in a patient with tetrasomy 9p | por |
dc.type | article | por |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | https://www.sciencedirect.com/science/article/pii/S0022346805004975 | por |
oaire.citationIssue | 10 | por |
oaire.citationVolume | 40 | por |
dc.identifier.doi | 10.1016/j.jpedsurg.2005.06.032 | por |
dc.identifier.pmid | 16226972 | por |
dc.subject.fos | Ciências Médicas::Medicina Clínica | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Journal of Pediatric Surgery | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Henriques-coelho-2005-Congenital-diaphragmatic-hernia-in-.pdf | 97,03 kB | Adobe PDF | Ver/Abrir |