Search Results - "Brusius Facchin, Ana Carolina"

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants by 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

“…Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the…”
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Copy number variations in SPAST and ATL1 are rare among Brazilians by 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

“…Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary…”
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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy by 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

“…Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of…”
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Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies by 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

“…Diagnostic yield of genetic studies for Charcot‐Marie‐Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic…”
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The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil) by 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

“…Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was…”
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Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region by 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

“…Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA…”
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Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population by 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.

“…Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB…”
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Clinical findings in Brazilian patients with adult GM1 gangliosidosis by 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

“…GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available,…”
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Diagnosis of Mucopolysaccharidoses by Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto

“…The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans…”
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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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Current molecular genetics strategies for the diagnosis of lysosomal storage disorders by Giugliani, Roberto, Brusius-Facchin, Ana-Carolina, Pasqualim, Gabriela, Leistner-Segal, Sandra, Riegel, Mariluce, Matte, Ursula

“…Lysosomal storage disorders (LSDs) are a group of almost 50 monogenic diseases characterized by mutations causing deficiency of lysosomal enzymes or non-enzyme…”
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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII by 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

“…Objective The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age‐matched fetuses…”
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network by 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

“…Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N‐acetyl‐alpha‐d‐glucosaminidase (NAGLU),…”
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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders by 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

“…Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in…”
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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil by 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

“…Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births…”
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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions by 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

“…The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth…”
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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart by Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra

“…Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the…”
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Gene-environment interactions and preterm birth predictors: A Bayesian network approach by 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

“…Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions…”
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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing by Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto

“…Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The…”
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Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles? by Rojas Malaga, Diana, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina

“…Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at…”
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