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of 24
pro vyhledávání: '"Simão, Laurentino"'
Autor:
Simão, Laurentino, Marques, Bárbara, Serafim, Sílvia, Alves, Ana, Pedro, Sónia, Brito, Filomena, Ferreira, Cristina, Peliano, Ricardo, Silva, Marisa, Baptista, Teresa, Quintal, Idolinda, Tomás, Edite, Cascais, Inês, Correia, Hildeberto
publicado em:Medicine (Baltimore). 2021 Jan 29;100(4):e23585. doi: 10.1097/MD.0000000000023585 Introduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term bir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::da0592d2158a0a70fcba9c285fb5ac76
https://hdl.handle.net/10400.18/8204
https://hdl.handle.net/10400.18/8204
Autor:
Simão, Laurentino, Serafim, Sílvia, Brito, Filomena, Alves, Cristina, Silva, Marisa, Peliano, Ricardo, Ferreira, Cristina, Marques, Bárbara, Pedro, Sónia, Oliveira, Juliana, Branco, Tiago, Correia, Hildeberto
Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the primary functions of the X and Y chromosomes is gender phenotype determination. Here we report a newborn female with ambiguous genitalia and abnormal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::bbe6f9cfedc585c810d9b33d0c3e6ec9
https://hdl.handle.net/10400.18/6755
https://hdl.handle.net/10400.18/6755
Autor:
Simão, Laurentino, Serafim, Sílvia, Silva, Marisa, Ambrósio, Paula, Alves, Cristina, Geraldes, Maria Céu, Marques, Bárbara, Ferreira, Cristina, Pedro, Sónia, Tarelho, Ana Rita, Furtado, José, Cohen, Álvaro, Ferreira, Ângela, Mourinha, Vera, Brito, Filomena, Correia, Hildeberto
As anomalias do crescimento fetal são uma importante causa de morbilidade e mortalidade perinatais. Os fatores envolvidos na restrição de crescimento fetal (RCF) podem ser maternos, placentários e fetais. Nos fatores fetais, as cromossomopatias e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::14d10796d9c2385bec55a4d7e5a12472
https://hdl.handle.net/10400.18/6810
https://hdl.handle.net/10400.18/6810
Akademický článek
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Autor:
Serafim, Silvia, Marques, Bárbara, Ferreira, Cristina, Brito, Filomena, Silva, Marisa, Simão, Laurentino, Alves, Cristina, Pedro, Sónia, Sá, Joaquim, Correia, Hildeberto
Rare inherited and de novo copy number variations (CNVs) are the cause of a variety of genetic disorders with intellectual disability (ID). Chromosomal microarray analysis (CMA) has been a rapid method to identify both large and small pathogenic geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::e27d1240139748a6793e055b08fdde48
https://hdl.handle.net/10400.18/5227
https://hdl.handle.net/10400.18/5227
Autor:
Simão, Laurentino
Clinically significant chromosomal defects occur in 0.65% of all births, with high morbidity and mortality. Chromosome disorders form a major category of genetic disease. They account for a large proportion of all reproductive wastage, congenital mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::982aaec578261abaf08b2207642f1397
https://hdl.handle.net/10400.18/4400
https://hdl.handle.net/10400.18/4400
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Simão, Laurentino, Marques, Bárbara, Sónia, Pedro, Antunes, Diana, Brito, Filomena, Silva, Neuza, Nunes, Luis, Correia, Hildeberto
Deletion of chromosome 6q is a relatively rare clinical entity associated to a considerable variability of the phenotypic spectrum. Mental retardation, facial dimorphisms, seizures, and brain abnormalities are typical features of this syndrome but un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::1d28283823ab5530876a41ebdeee8ade
https://hdl.handle.net/10400.18/2743
https://hdl.handle.net/10400.18/2743
Autor:
Simão, Laurentino, Alves, Cristina, Brito, Filomena, Marques, Bárbara, Ferreira, Cristina, Gaspar, Isabel, Dieudonne, V., Cabral, P., Meneses, I., Duarte, Guida, Correia, Hildeberto
Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a comm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::e3faa1884b9ea8ab6485b81890e7f1f1
https://hdl.handle.net/10400.18/2042
https://hdl.handle.net/10400.18/2042
Autor:
Marques, Bárbara, Ferreira, Cristina, Brito, Filomena, Alves, Cristina, Carvalho, Lucilia, Furtado, José, Ventura, Catarina, Silva, Marisa, Simão, Laurentino, Correia, Joaquim, Correia, Hildeberto
Abstrat publicado em: Chromosome Research. 2003;21(Suppl 1):S1–S168. doi:10.1007/s10577-013-9364-x
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2016::86cf94236b8b7a0c46c1e8f9b8abdb8f
https://hdl.handle.net/10400.18/1714
https://hdl.handle.net/10400.18/1714