Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
Moreno, Carolina Araujo, Sobreira, Nara, Pugh, Elizabeth, Zhang, Peng, Steel, Gary, Torres, Fábio Rossi, Cavalcanti, Denise Pontes
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
Get full text
Journal Article
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes
Moreno, Carolina Araujo, Metze, Konradin, Lomazi, Elizete Aparecida, Bertola, Débora Romeo, Barbosa, Ricardo Henrique Almeida, Cosentino, Viviana, Sobreira, Nara, Cavalcanti, Denise Pontes
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
Get full text
Journal Article
Acute liver failure in a term neonate after repeated paracetamol administration
Bucaretchi, Fábio, Fernandes, Carla Borrasca, Branco, Maíra Migliari, De Capitani, Eduardo Mello, Hyslop, Stephen, Caldas, Jamil Pedro S, Moreno, Carolina Araújo, Porta, Gilda
Published in Revista Paulista de Pediatria (01.03.2014)
Published in Revista Paulista de Pediatria (01.03.2014)
Get full text
Journal Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
de Wallau, Melissa Bittencourt, Xavier, Ana Carolina, Moreno, Carolina Araújo, Kim, Chong Ae, Mendes, Elaine Lustosa, Ribeiro, Erlane Marques, Oliveira, Amanda, Félix, Têmis Maria, Fett-Conte, Agnes Cristina, Bonadia, Luciana Cardoso, Correia-Costa, Gabriela Roldão, Monlleó, Isabella Lopes, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Published in Genes (01.04.2024)
Published in Genes (01.04.2024)
Get full text
Journal Article
Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
Lacarrubba‐Flores, Maria Dora Jazmin, Carvalho, Daniel Rocha, Ribeiro, Erlane Marques, Moreno, Carolina Araujo, Esposito, Ana Carolina, Marson, Fernando Augusto Lima, Loureiro, Thereza, Cavalcanti, Denise Pontes
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
Get full text
Journal Article
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
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
Published in American journal of human genetics (03.10.2019)
Published in American journal of human genetics (03.10.2019)
Get full text
Journal Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, Cano, Aline, Couce, María‐Luz, Crushell, Ellen, Ficicioglu, Can, Forny, Patrick, García Jiménez, María Concepción, Gaspar, Ana, González‐Lamuño Leguina, Domingo, Chapman, Kimberly A., Chien, Yin‐Hsiu, Janssen, Mirian C.H., Ješina, Pavel, Lachmann, Robin, Lavigne, Christian, Lund, Allan M., Lüsebrink, Natalia, Maillot, Francois, Martins, Ana Maria, Olivas, Silvia Meavilla, Mention, Karine, Mochel, Fanny, Monavari, Ahmad, Moreira, Sónia, Moreno, Carolina Araujo, Muačević‐Katanec, Diana, Mundy, Helen, Murphy, Elaine, Olivieri, Giorgia, Paquay, Stéphanie, Pedrón‐Giner, Consuelo, Quintana, Luís Peña, Porras‐Hurtado, Gloria L., Fraile, Pilar Quijada, Redonnet‐Vernhet, Isabelle, Rennings, Alexander J.M., Pons, Mònica Ruiz, Santra, Saikat, Servais, Aude, Schiaffino, Maria Cristina, Schiff, Manuel, Schwahn, Bernd C., Schwartz, Ida V.D., Sremba, Leighann J., Stainforth, Collette, Stepien, Karolina M., Sykut‐Cegielska, Jolanta, Terry, Allyson, Tran, Christel, Miñana, Isidro Vitoria, Vives‐Piñera, Inmaculada, Williams, Monique, Zeman, Jiří, Zielonka, Matthias
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
Get full text
Journal Article
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
Get full text
Journal Article
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
Quaio, Caio Robledo D’Angioli Costa, Ceroni, José Ricardo Magliocco, Pereira, Michele Araújo, Teixeira, Anne Caroline Barbosa, Yamada, Renata Yoshiko, Cintra, Vivian Pedigone, Perrone, Eduardo, De França, Marina, Chen, Kelin, Minillo, Renata Moldenhauer, Biondo, Cheysa Arielly, de Mello, Mariana Rezende Bandeira, Moura, Lais Rodrigues, do Nascimento, Amanda Thamires Batista, de Oliveira Pelegrino, Karla, de Lima, Larissa Barbosa, do Amaral Virmond, Luiza, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de Araujo Espolaor, Jessica Grasiela, Silva, Thiago Yoshinaga Tonholo, Moraes, Gabriel Hideki Izuka, de Oliveira, Gustavo Santos, Moura, Livia Maria Silva, Caraciolo, Marcel Pinheiro, Guedes, Rafael Lucas Muniz, Gretschischkin, Michel Chieregato, Chazanas, Pedro Lui Nigro, Nakamura, Carolina Naomi Izo, de Souza Reis, Rodrigo, Toledo, Carmen Melo, Lage, Fernanda Stussi Duarte, de Almeida, Giovanna Bloise, do Nascimento Júnior, José Bandeira, Cardoso, Milena Andreuzo, de Paula Azevedo, Victor, de Almeida, Tatiana Ferreira, Cervato, Murilo Castro, de Oliveira Filho, Joao Bosco
Published in Human genomics (16.11.2023)
Published in Human genomics (16.11.2023)
Get full text
Journal Article
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
Quaio, Caio Robledo D’ Angioli Costa, Coelho, Antonio Victor Campos, Moura, Livia Maria Silva, Guedes, Rafael Lucas Muniz, Chen, Kelin, Ceroni, Jose Ricardo Magliocco, Minillo, Renata Moldenhauer, Caraciolo, Marcel Pinheiro, Reis, Rodrigo de Souza, Azevedo, Bruna Mascaro Cordeiro de, Nobrega, Maria Soares, Teixeira, Anne Caroline Barbosa, Martinelli Lima, Matheus, Mota, Thamara Rayssa da, Matta, Marina Cadena da, Colichio, Gabriela Borges Cherulli, Roncalho, Aline Lulho, Ferreira, Ana Flavia Martinho, Campilongo, Gabriela Pereira, Perrone, Eduardo, Virmond, Luiza do Amaral, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, França, Marina de, Cervato, Murilo Castro, Almeida, Tatiana Ferreira de, Oliveira Filho, Joao Bosco de
Published in Frontiers in genetics (30.08.2022)
Published in Frontiers in genetics (30.08.2022)
Get full text
Journal Article
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
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
Published in European journal of medical research (24.08.2016)
Published in European journal of medical research (24.08.2016)
Get full text
Journal Article
IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO
Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela
Published in Revista Paulista de Pediatria (01.03.2018)
Published in Revista Paulista de Pediatria (01.03.2018)
Get full text
Journal Article
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
Tommaso, Adriana Maria Alves De, Barra, Flávia Fonseca de Carvalho, Hessel, Gabriel, Moreno, Carolina Araújo, Giugliani, Roberto, Escanhoela, Cecília Amélia Fazzio
Published in Revista paulista de pediatria (01.01.2018)
Published in Revista paulista de pediatria (01.01.2018)
Get full text
Journal Article
IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO
Tommaso, Adriana Maria Alves De, Barra, Flávia Fonseca de Carvalho, Hessel, Gabriel, Moreno, Carolina Araújo, Giugliani, Roberto, Escanhoela, Cecília Amélia Fazzio
Published in Revista paulista de pediatria (30.10.2017)
Published in Revista paulista de pediatria (30.10.2017)
Get full text
Journal Article