Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
Villela, Darine, Mazzonetto, Patricia C., Migliavacca, Michele P., Perrone, Eduardo, Guida, Gustavo, Milanezi, Maria Fernanda G., Jorge, Alexander A. L., Ribeiro‐Bicudo, Lucilene A., Kok, Fernando, Campagnari, Francine, Rosso‐Giuliani, Liane, Costa, Silvia Souza, Vianna‐Morgante, Angela M., Pearson, Peter L., Krepischi, Ana C. V., Rosenberg, Carla
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment
Nascimento, Deborah Ribeiro, Balaniuc, Suzana Lopes Bomfim, Palhares, Durval Batista, Underwood, Adam, Palhares, Marilene Garcia, Alves, Fabiana, Vieira, Francisco Oliveira, Souza-Fagundes, Elaine Maria, Giuliani, Liane De Rosso, Xavier, Paula Cristhina Niz, Puerto, Helen Lima Del, Santos, Robson Augusto Souza, Milsted, Amy, Brum, Jose Mauro, Silva, Iandara Schettert, Martins, Almir Sousa
Published in Intractable & Rare Diseases Research (31.08.2021)
Published in Intractable & Rare Diseases Research (31.08.2021)
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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children
Horovitz, Dafne D.G., Acosta, Angelina Xavier, de Rosso Giuliani, Liane, Ribeiro, Erlane Marques
Published in Molecular genetics and metabolism reports (01.12.2015)
Published in Molecular genetics and metabolism reports (01.12.2015)
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1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
De Molfetta, Greice Andreotti, Ferreira, Cristiane Ayres, Vidal, Daniel Onofre, Giuliani, Liane de Rosso, Maldonado, Maria José, Silva, Jr, Wilson Araujo
Published in BMC genetics (20.12.2012)
Published in BMC genetics (20.12.2012)
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Giugliani, Roberto, Barth, Anneliese Lopes, Dumas, Melissa Rossi Calvão, da Silva Franco, José Francisco, de Rosso Giuliani, Liane, Grangeiro, Carlos Henrique Paiva, Horovitz, Dafne Dain Gandelman, Kim, Chong Ae, de Araújo Leão, Emilia Katiane Embiruçu, de Medeiros, Paula Frassinetti Vasconcelos, Miguel, Diego Santana Chaves Geraldo, Moreira, Maria Espírito Santo Almeida, dos Santos, Helena Maria Guimarães Pimentel, da Silva, Luiz Carlos Santana, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel
Published in Orphanet journal of rare diseases (22.05.2021)
Published in Orphanet journal of rare diseases (22.05.2021)
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Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls
Palhares, Durval Batista, Nascimento, Deborah Ribeiro, Palhares, Marilene Garcia, Balaniuc, Suzana Lopes Bomfim, Giuliani, Liane de Rosso, Xavier, Paula Cristhina Niz, Brum, José Mauro Goulart, Alves, Fabiana, Vieira, Francisco Oliveira, Souza-Fagundes, Elaine Maria, Underwood, Adam, Milsted, Amy, Santos, Robson Augusto Souza, Martins, Almir Sousa
Published in Intractable & Rare Diseases Research (01.02.2019)
Published in Intractable & Rare Diseases Research (01.02.2019)
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General overview of urea cycle disorders (UCDs) in Brazil
Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome
Josahkian, Juliana Alves, Brusius‐Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Leistner‐Segal, Sandra, Málaga, Diana Rojas, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele Barbosa, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Erlane Marques, Kim, Chong Ae, Siqueira, Ana Cecília Menezes, Santos, Mara Lucia, Valle, Daniel Almeida, Silva, Raquel Tavares Boy, Horovitz, Dafne Dain Gandelman, Medeiros, Paula Frassinetti Vasconcelos, Souza, Carolina Fischinger Moura, Giuliani, Liane de Rosso, Miguel, Diego Santana Chaves Geraldo, Santana‐da‐Silva, Luiz Carlos, Galera, Marcial Francis, Giugliani, Roberto
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Percepções paternas quanto as suas expectativas sobre o futuro do filho com deficiência mental / Fathers' perceptions of their expectations about the future of children with mental disability
Vitiritti, Bruno, Marcheti, Maria Angélica, Giuliani, Liane De Rosso
Published in Ciência, cuidado e saúde (16.10.2015)
Published in Ciência, cuidado e saúde (16.10.2015)
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Journal Article
Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy
Thomazinho, Paula De Almeida, Pelissari, Eliana, Duarte, Regina Célia Beltrão, De Souza, Carolina Fishinger Moura, Borges, Heloíse Helena Siqueira, Horta, Maria Da Glória Cruvinel, Giuliani, Liane De Rosso, Martins, Ana Maria, Stewart, Lilian, Horovitz, Dafne Dain Gandelman, Llerena, Juan Clinton
Published in Open journal of clinical diagnostics (2019)
Published in Open journal of clinical diagnostics (2019)
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Journal Article
PERFIL DOS PACIENTES COM FENILCETONÚRIA DO SERVIÇO DE TRIAGEM NEONATAL DO MATO GROSSO DO SUL
Arimura, Edson Rodrigues, Giuliani, Liane de Rosso, Araújo, Poliana Lemes, Machado, Mayaha Bárbara Oliveira do Nascimento, Félix, Têmis Maria
Published in Brazilian Journal of Implantology and Health Sciences (20.01.2024)
Published in Brazilian Journal of Implantology and Health Sciences (20.01.2024)
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Journal Article
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios Investigation of neurodevelopment delay etiology: resources and challenges
Luiza Helena Acerbi Caram, Carolina Araújo Rodrigues Funayama, Cleide Íris Spina, Liane de Rosso Giuliani, João Monteiro de Pina Neto
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Published in Arquivos de neuro-psiquiatria (01.06.2006)
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Journal Article
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios
Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Published in Arquivos de neuro-psiquiatria (01.06.2006)
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Journal Article
Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment
Nascimento, Deborah Ribeiro, Balaniuc, Suzana Lopes Bomfim, Palhares, Durval Batista, Underwood, Adam, Palhares, Marilene Garcia, Alves, Fabiana, Vieira, Francisco Oliveira, Souza-Fagundes, Elaine Maria, Giuliani, Liane De Rosso, Xavier, Paula Cristhina Niz, Puerto, Helen Lima Del, Santos, Robson Augusto Souza, Milsted, Amy, Brum, Jose Mauro, Silva, Iandara Schettert, Martins, Almir Sousa
Published in Intractable & Rare Diseases Research (2021)
Published in Intractable & Rare Diseases Research (2021)
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Journal Article
Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls
Palhares, Durval Batista, Nascimento, Deborah Ribeiro, Palhares, Marilene Garcia, Balaniuc, Suzana Lopes Bomfim, Giuliani, Liane de Rosso, Xavier, Paula Cristhina Niz, Brum, José Mauro Goulart, Alves, Fabiana, Vieira, Francisco Oliveira, Souza-Fagundes, Elaine Maria, Underwood, Adam, Milsted, Amy, Santos, Robson Augusto Souza, Martins, Almir Sousa
Published in Intractable & Rare Diseases Research (2019)
Published in Intractable & Rare Diseases Research (2019)
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Journal Article
Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios
Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Published in Arquivos de neuro-psiquiatria (01.06.2006)
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Journal Article