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

by Ferreira Susana, Matoso Eunice, Venâncio Margarida, Saraiva Jorge, Melo Joana B, Carreira Isabel
Published 2012-05-01

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

by Melo Joana B, Almeida Joana, Liehr Thomas, Pinto Marta, Matoso Eunice, Ferreira Susana I, Carreira Isabel M
Published 2010-07-01

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

by Oliveira Guiomar, Kosyakova Nadezda, Weise Anja, Vermeesch Joris, Backx Liesbeth, Rodrigues Carlos, Melo Joana B, Carreira Isabel M, Matoso Eunice
Published 2009-08-01