Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Oliva-Teles N"'
Autor:
Cardoso, M., Oliva-Teles, N., Tkachenko, N., Talkowski, M.E., Morton, C.C., Fortuna, A.M., David, D.
Chromothripsis is an extreme form of complex chromosomal rearrangement (CCR), characterized by a localized shattering and random reassembly of genomic fragments. The aim of this study is the characterization at sequence-level resolution of a cytogene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::79bce51aa778f6564067849b21b43fa9
https://hdl.handle.net/10400.18/5492
https://hdl.handle.net/10400.18/5492
Publikováno v:
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 22 No. 1 (2013); 19-24
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 22 N.º 1 (2013); 19-24
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 22 N.º 1 (2013); 19-24
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
RESUMO As perturbações do espectro do autismo (PEA) constituem-se como perturbações do neurodesenvolvimento, incluindo alterações comportamentais, de comunicação e de interação social. De acordo com o DSM-IV TR estão descritas cinco pertur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c4baf2d7526786620910a8562102118
https://revistas.rcaap.pt/nascercrescer/article/view/12894
https://revistas.rcaap.pt/nascercrescer/article/view/12894
Akademický článek
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Publikováno v:
Nascer e Crescer, Volume: 23 Supplement 3, Pages: 35-35, Published: 29 NOV 2014
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______616::20a5c8983dd3064715ec2c68c6a98c3a
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000600061&lng=en&tlng=en
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000600061&lng=en&tlng=en
Autor:
Oliva-Teles, N.
RESUMO Atualmente é reconhecido pela sociedade que o conhecimento da documentação nacional e internacional mais relevante em termos bioéticos é fulcral para a prática diária, tanto em termos de assistência como de investigação. Neste artigo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2346::fddc6a337c0e450cd6395c707a30e3d9
https://hdl.handle.net/10400.16/1491
https://hdl.handle.net/10400.16/1491
Autor:
Ribeiro, M.C., Mota Freitas, M., Ribeiro, J., Lopes, M.M., Oliva Teles, N., Correia, H., Fonseca e Silva, M.L.
Introdução: As deleções intersticiais são anomalias cromossómicas estruturais, desequilibradas, resultantes de dois pontos de quebra, frequentemente associadas a quadros clínicos anormais devido à perda de material genético ativo (eucromatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::d4bc0539b510e6c9d48bfc7501f32395
https://hdl.handle.net/10400.18/1191
https://hdl.handle.net/10400.18/1191
Autor:
Pires, S., Oliva Teles, N., Ribeiro, J., Mota Freitas, M., Marques, B., Reis, G., Correia, H., Fonseca e Silva, M.L.
Introduction: Chromosome 15q interstitial deletions not involving the Prader-Willi/Angelman region are uncommon and poorly characterized. Very few cases of different segmental losses involving the 15q21 region have been reported at cytogenetic level.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::21bcb63e1131bf770f5e9cb525012ce9
https://hdl.handle.net/10400.18/1219
https://hdl.handle.net/10400.18/1219
Autor:
Fonseca Silva, M.L., Mota Freitas, M., Candeias, C., Ribeiro, J., Oliva Teles, N., Soares, G., Tkachenko, N., Marques, B., Correia, H.
Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal deletion (inv dup del) were first reported for the short arm of chromosome 8 in1976. Since then this type of structural anomaly has been described for an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::c4aa1b3a704b49f99d53d18812f19869
https://hdl.handle.net/10400.18/1192
https://hdl.handle.net/10400.18/1192
Autor:
Oliveira, F.P., Ribeiro, J., Mota Freitas, M., Oliva Teles, N., Bártolo, A., Correia, H., Fonseca e Silva, M.L.
Introduction: The identification of supernumerary marker chromosomes (SMCs) derived from all the autosomes is currently possible, but rarely by conventional cytogenetics alone. Supernumerary ring chromosomes (SRCs) account for about 10% of these case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::5f415fc4c0f652f3eb43dece922cb92a
https://hdl.handle.net/10400.18/1193
https://hdl.handle.net/10400.18/1193