Neonatal McCune–Albright syndrome with systemic involvement: a case report

Por Lourenço, Rita, Dias, Patrícia, Gouveia, Raquel, Sousa, Ana Berta, Oliveira, Graça
Publicado no J Med Case Rep (2015)

A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure: A Case Report and Mutation Update

Por Alvelos, Maria Inês, Rodrigues, Magda, Lobo, Luísa, Medeira, Ana, Sousa, Ana Berta, Simão, Carla, Lemos, Manuel Carlos
Publicado no Medicine (Baltimore) (2015)

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

Por Garg, Abhimanyu, Hernandez, Maria Dolores, Sousa, Ana Berta, Subramanyam, Lalitha, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Barboza, Oralia
Publicado em 2010

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

Por Agarwal, Anil K., Xing, Chao, DeMartino, George N., Mizrachi, Dario, Hernandez, Maria Dolores, Sousa, Ana Berta, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Garg, Abhimanyu
Publicado em 2010

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

Por Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicado em 2011

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Por Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B, Ryan, Monique M, Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R, Shoubridge, Cheryl, Jorge, Paula
Publicado no Mol Genet Genomic Med (2015)