Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
Rosset, Clévia, Vairo, Filippo, Bandeira, Isabel Cristina, Correia, Rudinei Luis, de Goes, Fernanda Veiga, da Silva, Raquel Tavares Boy, Bueno, Larissa Souza Mario, de Miranda Gomes, Mireille Caroline Silva, Galvão, Henrique de Campos Reis, Neri, João I C F, Achatz, Maria Isabel, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Published in PloS one (02.10.2017)
Published in PloS one (02.10.2017)
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Serological investigation of vaccine-induced antibodies for measles, rubella, and yellow fever viruses in children vertically exposed to Zika virus or with down syndrome
Familiar-Macedo, Débora, Dias, Helver Gonçalves, Carvalho, Fabiana Rabe, Pauvolid-Corrêa, Alex, da Silveira, Mayara Neto, de Oliveira, Mariana Cavalcante, Gonçalves, Rita de Cássia Ferreira, Vianna, Renata Artimos de Oliveira, Cardoso, Claudete Aparecida Araujo, Boy da Silva, Raquel Tavares, Baumblatt, Anna Paula, de-Oliveira-Pinto, Luzia Maria
Published in Frontiers in pediatrics (14.12.2023)
Published in Frontiers in pediatrics (14.12.2023)
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Dandy-Walker Malformation and Down Syndrome Association: Good Developmental Outcome and Successful Endoscopic Treatment of Hydrocephalus
Nigri, Flavio, Fiuza Cabral, Isaias, Boy da Silva, Raquel Tavares, Viscaíno Pereira, Heloisa, Telles Ribeiro, Carlos Roberto
Published in Case reports in neurology (14.05.2014)
Published in Case reports in neurology (14.05.2014)
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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing
Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros
Published in Molecular neurobiology (01.09.2020)
Published in Molecular neurobiology (01.09.2020)
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Journal Article
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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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos
Published in Orphanet journal of rare diseases (24.02.2022)
Published in Orphanet journal of rare diseases (24.02.2022)
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Journal Article
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Published in Orphanet journal of rare diseases (01.11.2020)
Published in Orphanet journal of rare diseases (01.11.2020)
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Journal Article
Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat
Giugliani, Luciana, Van der Linder, Vanesa, Van Der Linden, Helio, Lourenço, Charles Marques, de Araújo Leão, Emília Katiane Embiruçu, Arita, Juliana Harumi, Doriqui, Maria Julia Rodovalho, Neto, Pedro Braga, de Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman, Santos, Mara Lucia, Grillo, Eugenio, da Silva, Raquel Tavares Boy, de Oliveira Abrão, Janaina Bianca, Trapp, Franciele Barbosa, Giugliani, Roberto
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Amorim, Tatiana, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, de Santana Santos, Emerson, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tonon, Tássia, Sperb-Ludwig, Fernanda, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo Junior
Published in Orphanet Journal of Rare Diseases (20.10.2020)
Published in Orphanet Journal of Rare Diseases (20.10.2020)
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Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus
Nigri, Flavio, Cabral, Isaias Fiuza, da Silva, Raquel Tavares Boy, Pereira, Heloisa Viscaíno, Ribeiro, Carlos Roberto Telles
Published in Case reports in neurology (01.05.2014)
Published in Case reports in neurology (01.05.2014)
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