Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Zanetti, Alessandra, D'Avanzo, Francesca, AlSayed, Moeenaldeen, Brusius‐Facchin, Ana Carolina, Chien, Yin‐Hsiu, Giugliani, Roberto, Izzo, Emanuela, Kasper, David C., Lin, Hsiang‐Yu, Lin, Shuan‐Pei, Pollard, Laura, Singh, Akashdeep, Tonin, Rodolfo, Wood, Tim, Morrone, Amelia, Tomanin, Rosella
Published in Human mutation (01.11.2021)
Published in Human mutation (01.11.2021)
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Copy number variations in SPAST and ATL1 are rare among Brazilians
Fussiger, Helena, Pereira, Bruna Letícia da Silva, Padilha, Janice Pacheco Dias, Donis, Karina Carvalho, Siebert, Marina, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Saute, Jonas Alex Morales
Published in Clinical genetics (01.05.2023)
Published in Clinical genetics (01.05.2023)
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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, Souza, Carolina Moura Fischinger de, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Published in JIMD reports (01.03.2022)
Published in JIMD reports (01.03.2022)
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Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies
Padilha, Janice Pacheco Dias, Brasil, Carolina Serpa, Hoefel, Alice Maria Luderitz, Winckler, Pablo Brea, Donis, Karina Carvalho, Brusius‐Facchin, Ana Carolina, Saute, Jonas Alex Morales
Published in Clinical genetics (01.08.2020)
Published in Clinical genetics (01.08.2020)
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Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region
Santos‐Lopes, Simone Silva, Oliveira, Jessica Maria Florêncio, Queiroga Nascimento, Denise, Montenegro, Yorran Hardman Araújo, Leistner‐Segal, Sandra, Brusius‐Facchin, Ana Carolina, Eufrazino Gondim, Cátia, Giugliani, Roberto, Medeiros, Paula Frassinetti Vasconcelos
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population
Elias, Dario E., Santos, Maria R., Campaña, Hebe, Poletta, Fernando A., Heisecke, Silvina L., Gili, Juan A., Ratowiecki, Julia, Cosentino, Viviana, Uranga, Rocio, Málaga, Diana Rojas, Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B., Camelo, Jorge S. Lopez, Gimenez, Lucas G.
Published in Journal of community genetics (01.12.2022)
Published in Journal of community genetics (01.12.2022)
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Clinical findings in Brazilian patients with adult GM1 gangliosidosis
Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto
Published in JIMD reports (01.09.2019)
Published in JIMD reports (01.09.2019)
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Diagnosis of Mucopolysaccharidoses
Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto
Published in Diagnostics (Basel) (22.03.2020)
Published in Diagnostics (Basel) (22.03.2020)
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The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)
Cardoso-Dos-Santos, Augusto César, Mariath, Luiza Monteavaro, Trapp, Franciele, Facchin, Ana Carolina Brusius, Leistner, Sandra, Kubaski, Francyne, Giugliani, Roberto, Schuler-Faccini, Lavinia, Ribeiro, Erlane Marques
Published in Journal of community genetics (19.08.2024)
Published in Journal of community genetics (19.08.2024)
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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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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
Kubaski, Francyne, Brusius‐Facchin, Ana Carolina, Mason, Robert W., Patel, Pravin, Burin, Maira G., Michelin‐Tirelli, Kristiane, Kessler, Rejane Gus, Bender, Fernanda, Leistner‐Segal, Sandra, Moreno, Carolina A., Cavalcanti, Denise P., Giugliani, Roberto, Tomatsu, Shunji
Published in Prenatal diagnosis (01.05.2017)
Published in Prenatal diagnosis (01.05.2017)
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Current molecular genetics strategies for the diagnosis of lysosomal storage disorders
Giugliani, Roberto, Brusius-Facchin, Ana-Carolina, Pasqualim, Gabriela, Leistner-Segal, Sandra, Riegel, Mariluce, Matte, Ursula
Published in Expert review of molecular diagnostics (02.01.2016)
Published in Expert review of molecular diagnostics (02.01.2016)
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, Souza, Carolina F M de, Schwartz, Ida V D, Matte, Ursula, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Lemos, Júlia F, Pasetto, Fernanda B, Brasil, Carolina S, Trapp, Franciele B, Saute, Jonas Alex Morales, Donis, Karina Carvalho, Becker, Michele Michelin, Wiest, Paloma, Coutinho, Vivian L S, Castro, Simone, Ferreira, Juliana, Silveira, Cynthia, Bittar, Maria Fernanda R, Wang, Cristina, Lana, Janaina M, França Junior, Marcondes Cavalcante, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2023)
Published in Genetics and molecular biology (01.01.2023)
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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Magalhães, Ana Paula Pereira Scholz de, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto
Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Gene-environment interactions and preterm birth predictors: A Bayesian network approach
Elias, Dario E, Santos, Maria R, Campaña, Hebe, Poletta, Fernando A, Heisecke, Silvina L, Gili, Juan A, Ratowiecki, Julia, Cosentino, Viviana R, Uranga, Rocio, Málaga, Diana Rojas, Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B, Camelo, Jorge S Lopez, Gimenez, Lucas G
Published in Genetics and molecular biology (01.01.2023)
Published in Genetics and molecular biology (01.01.2023)
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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto
Published in Frontiers in molecular biosciences (05.11.2021)
Published in Frontiers in molecular biosciences (05.11.2021)
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