Search Results - "Rosso‐Giuliani, Liane"

Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses by 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

“…Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first‐tier…”
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Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment by 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

“…Fibrodysplasia Ossificans Progressiva (FOP) is a rare congenital intractable disease associated with a mutation in ACVR1 gene, characterized by skeleton…”
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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children by Horovitz, Dafne D.G., Acosta, Angelina Xavier, de Rosso Giuliani, Liane, Ribeiro, Erlane Marques

“…Clinical and biochemical improvements are reported on Mucopolysaccharidosis type VI (MPS VI) patients on Enzyme Replacement Therapy (ERT) with rhASB…”
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1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes by De Molfetta, Greice Andreotti, Ferreira, Cristiane Ayres, Vidal, Daniel Onofre, Giuliani, Liane de Rosso, Maldonado, Maria José, Silva, Jr, Wilson Araujo

“…More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental…”
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings by 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

“…Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an…”
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Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls by 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

“…Fibrodysplasia ossificans progressiva (FOP) is a rare, intractable and devastating genetic connective tissue disorder characterized by progressive ectopic…”
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General overview of urea cycle disorders (UCDs) in Brazil by 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

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Investigation of neurodevelopment delay etiology: resources and challenges by Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Iris, Giuliani, Liane de Rosso, de Pina Neto, João Monteiro

“…To verify the reach of development delay investigation, we brought the experience in the pediatrics, infantile neurology and clinical genetics diagnoses, with…”
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Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome by 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

“…Mucopolysaccharidosis type II (MPS II) is an X‐linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal…”
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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 by Vitiritti, Bruno, Marcheti, Maria Angélica, Giuliani, Liane De Rosso

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Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes by Versiani, Beatriz Ribeiro, Gilbert-Barness, Enid, Giuliani, Liane Rosso, Peres, Luiz Cesar, Pina-Neto, João Monteiro

“…The association of maternal diabetes mellitus and congenital anomalies is well established. Children of insulin-dependent diabetic women have an increased risk…”
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Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children by Horovitz, Dafne D G, Acosta, Angelina Xavier, de Rosso Giuliani, Liane, Ribeiro, Erlane Marques

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Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios by Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de

“…Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em…”
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Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios Investigation of neurodevelopment delay etiology: resources and challenges by Luiza Helena Acerbi Caram, Carolina Araújo Rodrigues Funayama, Cleide Íris Spina, Liane de Rosso Giuliani, João Monteiro de Pina Neto

“…Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em…”
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Rare and intractable fibrodysplasia ossificans progressiva shows different PBMC phenotype possibly modulated by ascorbic acid and propranolol treatment by 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

“…Fibrodysplasia Ossificans Progressiva (FOP) is a rare congenital intractable disease associated with a mutation in ACVR1 gene, characterized by skeleton…”
Get full text

Propranolol and ascorbic acid in control of fibrodysplasia ossificans progressiva flare-ups due to accidental falls by 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

“…Fibrodysplasia ossificans progressiva (FOP) is a rare, intractable and devastating genetic connective tissue disorder characterized by progressive ectopic…”
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Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios by Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Íris, Giuliani, Liane de Rosso, Pina Neto, João Monteiro de

“…Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em…”
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Investigation of neurodevelopment delay etiology: resources and challenges by Caram, Luiza Helena Acerbi, Funayama, Carolina Araújo Rodrigues, Spina, Cleide Iris, Giuliani, Liane de Rosso, de Pina Neto, João Monteiro

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Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros by Giugliani, Roberto, Federhen, Andressa, Muñoz Rojas, Maria Verónica, Vieira, Taiane Alves, Artigalás, Osvaldo, Pinto, Louise Lapagesse Carmargo, Azevedo, Ana Cecília, Acosta, Angelina Xavier, Bomfim, Carmem, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Souza, Denize Bomfim, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia Ribeiro, Guarany, Fábio, De Lucca, Gisele Rosone, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão, Fraga, José Carlos, Góes, José Eduardo, Cabral, José Maria, Simeonato, José, Llerena Jr, Juan Clinton, Jardim, Laura Bannach, Giuliani, Liane de Rosso, Silva, Luiz Carlos Santana da, Santos, Mara, Moreira, Maria Ângela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina Fishinger Moura de, Alcântara, Flavio F, Avilla, Sylvio Gilberto A, Fagondes, Simone, Martins, Ana Maria

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