Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

por Ferreira, Susana Isabel, Matoso, Eunice, Venâncio, Margarida, Saraiva, Jorge, Melo, Joana B, Carreira, Isabel Marques
Publicado 2012

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

por Ferreira, Susana I, Matoso, Eunice, Pinto, Marta, Almeida, Joana, Liehr, Thomas, Melo, Joana B, Carreira, Isabel M
Publicado 2010

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth

por Matoso, Eunice, Ramos, Fabiana, Ferrão, José, Pires, Luís M, Mascarenhas, Alexandra, Melo, Joana B, Carreira, Isabel M
Publicado 2014

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy

por Carreira, Isabel M, Melo, Joana B, Rodrigues, Carlos, Backx, Liesbeth, Vermeesch, Joris, Weise, Anja, Kosyakova, Nadezda, Oliveira, Guiomar, Matoso, Eunice
Publicado 2009

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

por Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa
Publicado 2015