Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study
Teixeira, Suélen Alves, Santos, Paula Carolina Mendes, Carneiro, Túlio Canella Bezerra, Paiva, Saul Martins, Valadares, Eugênia Ribeiro, Borges-Oliveira, Ana Cristina
Published in Special care in dentistry (01.03.2021)
Published in Special care in dentistry (01.03.2021)
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Journal Article
Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Journal Article
Guidelines for the Management of Mucopolysaccharidosis Type I
Martins, Ana Maria, MD, PhD, Dualibi, Ana Paula, MD, PhD, Norato, Denise, MD, PhD, Takata, Edna Tiemi, MD, Santos, Emerson S., MD, Valadares, Eugênia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, de Luca, Gisele, MD, Moreira, Gustavo, MD, PhD, Pimentel, Helena, MD, Coelho, Janice, PhD, Brum, Jaime Moritz, MD, PhD, Filho, José Semionato, MD, Kerstenetzky, Marcelo Soares, MD, Guimarães, Márcia R., MD, Muñoz Rojas, Maria Verónica, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Faria, Rodrigo G.C., MD, Mota, Ronald Moura Vale, MD, Matte, Ursula, PhD, Guedes, Zelita Caldeira Ferreira, PhD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Journal Article
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Dornelles, Alícia Dorneles, de Camargo Pinto, Louise Lapagesse, de Paula, Ana Carolina, Steiner, Carlos Eduardo, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Goulart, Isabela, Neves de Souza, Isabel C, da Costa Neri, João Ivanildo, Santana-da-Silva, Luiz Carlos, Silva, Luiz Roberto, Ribeiro, Márcia, de Oliveira Sobrinho, Ruy Pires, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Published in Genetics and molecular biology (01.01.2014)
Published in Genetics and molecular biology (01.01.2014)
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Hereditary fructose intolerance in Brazilian patients
Valadares, Eugênia Ribeiro, Cruz, Ana Facury da, Adelino, Talita Emile Ribeiro, Kanufre, Viviane de Cássia, Ribeiro, Maria do Carmo, Penido, Maria Goretti Moreira Guimarães, Peret Filho, Luciano Amedee, Valadares, Laís Maria Santos Valadares e
Published in Molecular genetics and metabolism reports (01.09.2015)
Published in Molecular genetics and metabolism reports (01.09.2015)
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Journal Article
Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil
Valadares, Eugênia Ribeiro, Pizarro, Mayara Xavier, Oliveira, Luiz Roberto, Amorim, Regina Helena Caldas de, Pinheiro, Tarcísio Márcio Magalhães, Grieben, Ulrike, Santos, Helena Hollanda, Queiroz, Rachel Rabelo, Lopes, Guilherme de Castro, Godard, Ana Lúcia Brunialti
Published in Arquivos de neuro-psiquiatria (01.02.2011)
Published in Arquivos de neuro-psiquiatria (01.02.2011)
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Journal Article
Oral health of children and adolescents with mucopolysaccharidosis and mother's Sense of Coherence
Ruy Carneiro, Natália Cristina, Duda Deps, Tahyná, Campos França, Esdras, Ribeiro Valadares, Eugênia, Almeida Pordeus, Isabela, Borges-Oliveira, Ana Cristina
Published in Special care in dentistry (01.09.2017)
Published in Special care in dentistry (01.09.2017)
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Journal Article
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
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Journal Article
Neurofibromatoses: part 1 - diagnosis and differential diagnosis
Rodrigues, Luiz Oswaldo Carneiro, Batista, Pollyanna Barros, Goloni-Bertollo, Eny Maria, de Souza-Costa, Danielle, Eliam, Lucas, Eliam, Miguel, Cunha, Karin Soares Gonçalves, Darrigo-Junior, Luiz Guilherme, Ferraz-Filho, José Roberto Lopes, Geller, Mauro, Gianordoli-Nascimento, Ingrid F, Madeira, Luciana Gonçalves, Malloy-Diniz, Leandro Fernandes, Mendes, Hérika Martins, de Miranda, Débora Marques, Pavarino, Erika Cristina, Baptista-Pereira, Luciana, Rezende, Nilton A, Rodrigues, Luíza de Oliveira, da Silva, Carla Menezes, de Souza, Juliana Ferreira, de Souza, Márcio Leandro Ribeiro, Stangherlin, Aline, Valadares, Eugênia Ribeiro, Vidigal, Paula Vieira Teixeira
Published in Arquivos de neuro-psiquiatria (01.03.2014)
Published in Arquivos de neuro-psiquiatria (01.03.2014)
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Journal Article
Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease
Martins, Ana Maria, MD, PhD, Valadares, Eugenia Ribeiro, MD, PhD, Porta, Gilda, MD, PhD, Coelho, Janice, PhD, Filho, José Semionato, MD, Dudeque Pianovski, Mara Albonei, PhD, Kerstenetzky, Marcelo Soares, MD, de Fátima Pombo Montoril, Maria, MD, Aranda, Paulo Cesar, MD, Pires, Ricardo Flores, MD, Mota, Ronald Moura Vale, MD, Bortolheiro, Teresa Cristina, MD
Published in The Journal of pediatrics (01.10.2009)
Published in The Journal of pediatrics (01.10.2009)
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Journal Article
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Li, Dong, Strong, Alanna, Shen, Kaitlyn M., Cassiman, David, Van Dyck, Maria, Linhares, Natalia Duarte, Valadares, Eugenia Ribeiro, Wang, Tiancheng, Pena, Sergio D.J., Jaeken, Jaak, Vergano, Samantha, Zackai, Elaine, Hing, Anne, Chow, Penny, Ganguly, Arupa, Scholz, Tasja, Bierhals, Tatjana, Philipp, Deindl, Hakonarson, Hakon, Bhoj, Elizabeth
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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Journal Article
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovic, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Diagnóstico citogenético de pacientes com retardo mental idiopático Cytogenetic diagnosis of patients with idiopathic mental retardation
Natália Duarte Linhares, Marta Svartman, Eugênia Ribeiro Valadares
Published in Jornal brasileiro de patologia e medicina laboratorial (01.02.2012)
Published in Jornal brasileiro de patologia e medicina laboratorial (01.02.2012)
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Journal Article
Neurofibromatosis: part 2--clinical management
Batista, Pollyanna Barros, Bertollo, Eny Maria Goloni, Costa, Danielle de Souza, Eliam, Lucas, Cunha, Karin Soares Gonçalves, Cunha-Melo, José Renan, Darrigo Junior, Luiz Guilherme, Geller, Mauro, Gianordoli-Nascimento, Ingrid Faria, Madeira, Luciana Gonçalves, Mendes, Hérika Martins, Miranda, Débora Marques de, Mata-Machado, Nikolas Andre, Morato, Eric Grossi, Pavarino, Érika Cristina, Pereira, Luciana Baptista, Rezende, Nilton Alves de, Rodrigues, Luíza de Oliveira, Sette, Jorge Bezerra Cavalcanti
Published in Arquivos de neuro-psiquiatria (01.06.2015)
Published in Arquivos de neuro-psiquiatria (01.06.2015)
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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)
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Journal Article
Guidelines for the Management of Mucopolysaccharidosis Type I: Brazilian Guidelines to Diagnosis, Treatment, and Monitoring for Gaucher Disease, Fabry Disease, Mucopolissacharidosis Type I, and Pompe Disease
MARTINS, Ana Maria, DUALIBI, Ana Paula, COELHO, Janice, MORITZ BRUM, Jaime, SEMIONATO, José, SOARES KERSTENETZKY, Marcelo, GUIMARAES, Márcia R, MUNOZ ROJAS, Maria Verônica, CESAR ARANDA, Paulo, FLORES PIRES, Ricardo, FARIA, Rodrigo G. C, VALE MOTA, Ronald Moura, NORATO, Denise, MATTE, Ursula, FERREIRA GUEDES, Zelita Caldeira, TIEMI TAKATA, Edna, SANTOS, Emerson S, VALADARES, Eugênia Ribeiro, PORTA, Gilda, DE LUCA, Gisele, MOREIRA, Gustavo, PIMENTEL, Helena
Published in The Journal of pediatrics (2009)
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Published in The Journal of pediatrics (2009)
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