Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

por Moreno, Carolina Araujo, Sobreira, Nara, Pugh, Elizabeth, Zhang, Peng, Steel, Gary, Torres, Fábio Rossi, Cavalcanti, Denise Pontes
Publicado en Eur J Hum Genet (2018)

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT

por Tommaso, Adriana Maria Alves De, Barra, Flávia Fonseca de Carvalho, Hessel, Gabriel, Moreno, Carolina Araújo, Giugliani, Roberto, Escanhoela, Cecília Amélia Fazzio
Publicado en Rev Paul Pediatr (2017)

Acute liver failure in a term neonate after repeated paracetamol administration

por Bucaretchi, Fábio, Fernandes, Carla Borrasca, Branco, Maíra Migliari, Capitani, Eduardo Mello De, Hyslop, Stephen, Caldas, Jamil Pedro S., Moreno, Carolina Araújo, Porta, Gilda
Publicado 2014

Visceral Myopathy: Clinical and Molecular Survey of a Cohort of Seven New Patients and State of the Art of Overlapping Phenotypes

por Moreno, Carolina Araujo, Metze, Konradin, Lomazi, Elizete Aparecida, Bertola, Débora Romeo, Barbosa, Ricardo Henrique Almeida, Cosentino, Viviana, Sobreira, Nara, Cavalcanti, Denise Pontes
Publicado en Am J Med Genet A (2016)

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

por Araujo, Thaís Fenz, Ribeiro, Erlane Marques, Arruda, Anderson Pontes, Moreno, Carolina Araujo, de Medeiros, Paula Frassinetti Vasconcelos, Minillo, Renata Moldenhauer, Melo, Débora Gusmão, Kim, Chong Ae, Doriqui, Maria Juliana Rodovalho, Felix, Têmis Maria, Fock, Rodrigo Ambrosio, Cavalcanti, Denise Pontes
Publicado en Eur J Med Res (2016)

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

por Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian
Publicado en Am J Hum Genet (2019)