Browsing by Author Perez, Ana B. A. [UNIFESP]

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Issue DateTitleAuthor(s)
19-Jan-2012Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 geneColovati, Mileny E. S. [UNIFESP]; Silva, Luciana R. J. da [UNIFESP]; Takeno, Sylvia S. [UNIFESP]; Mancini, Tatiane I. [UNIFESP]; Dutra, Ana R. N. [UNIFESP]; Guilherme, Roberta S. [UNIFESP]; Mello, Claudia B. de [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Perez, Ana B. A. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
2017Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric ChromosomeBellucco, Fernanda T. [UNIFESP]; Nunes, Natalia [UNIFESP]; Colovati, Mileny E. S. [UNIFESP]; Malinverni, Andrea C. M. [UNIFESP]; Caneloi, Thamy P. [UNIFESP]; Soares, Maria F. [UNIFESP]; Perez, Ana B. A. [UNIFESP]; Melaragno, Maria I. [UNIFESP]
2017A novel de novo mutation in MYT1, the unique OAVS gene identified so farBerenguer, Marie; Tingaud-Sequeira, Angele; Colovati, Mileny [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Bragagnolo, Silvia [UNIFESP]; Perez, Ana B. A. [UNIFESP]; Arveiler, Benoit; Lacombe, Didier; Rooryck, Caroline
2017Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalitiesSobreira, Nara; Brucato, Martha; Zhang, Li; Ladd-Acosta, Christine; Ongaco, Chrissie; Romm, Jane; Doheny, Kimberly F.; Mingroni-Netto, Regina C.; Bertola, Debora; Kim, Chong A.; Perez, Ana B. A. [UNIFESP]; Melaragno, Maria I. [UNIFESP]; Valle, David; Meloni, Vera A.; Bjornsson, Hans T.