Listar Producción Científica por autor "Facchin, Ana Carolina Brusius"
Mostrando ítems 21-40 de 46
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Implantação do processo de vigilância genômica em Porto Alegre aplicada à detecção de novas variantes do coronavírus
Pasqualotto, Amanda; Schuh, Artur Francisco Schumacher; Rieder, Carlos Roberto de Mello; Sperb, Fernanda; Strelow, Matheus Zschornack; Führ, Paula; Martins, Cíntia Costa Medeiros; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Giugliani, Roberto; Siebert, Marina; Schwartz, Ida Vanessa Doederlein (2021) [Resumen publicado en evento] -
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
Saute, Jonas Alex Morales; Becker, Michele Michelin; Pereira, Maria Luiza Saraiva; Facchin, Ana Carolina Brusius; Mendonça, Rodrigo de Holanda; Zanoteli, Edmar (2020) [Artículo de periódico]Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) ... -
Levantamento de casos alterados da triagem neonatal por espectrometria de massas em tandem confirmados através de técnicas moleculares
Brasil, Carolina Serpa; Netto, Alice Brinckmann Oliveira; Kubaski, Francyne; Giugliani, Roberto; Facchin, Ana Carolina Brusius (2021) [Resumen publicado en evento] -
Lysosomal diseases : overview on current diagnosis and treatment
Poswar, Fabiano de Oliveira; Vairo, Filippo Pinto e; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Facchin, Ana Carolina Brusius; Kubaski, Francyne; Souza, Carolina Fischinger Moura de; Baldo, Guilherme; Giugliani, Roberto (2019) [Artículo de periódico]Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, ... -
May lysosomal-related genes be linked to atypical parkinsonism?
Pasqualotto, Ana Paula; Schuh, Artur Francisco Schumacher; Rieder, Carlos Roberto de Mello; Sperb, Fernanda; Strelow, Matheus Zschornack; Führ, Paula; Martins, Cíntia Costa Medeiros; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Giugliani, Roberto; Siebert, Marina; Schwartz, Ida Vanessa Doederlein (2021) [Resumen publicado en evento] -
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; Tirelli, Kristiane Michelin; Trapp, Franciele Barbosa; Kessler, Rejane Gus; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Sanseverino, Maria Teresa Vieira; Souza, Carolina Fischinger Moura de; Wilke, Matheus Vernet Machado Bressan; Oliveira, Thiago; Magalhães, Jose Antonio de Azevedo; Giugliani, Roberto (2022) [Artículo de periódico]Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood ... -
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, M.; Facchin, Ana Carolina Brusius; Chien, Yin-Hsiu; Giugliani, Roberto; Izzo, Emanuela; Kasper David C.; Lin, Hsiang-Yu; Lin, Shuan-Pei; Pollard, Laura Malinda; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim J.; Marrone, Amelia; Tomanin, Rosella (2021) [Artículo de periódico]Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ... -
MPS II deletion including contiguous genes
Ferreira, Fernanda Silva; Facchin, Ana Carolina Brusius; Souza, Carolina Fischinger Moura de; Schwartz, Ida Vanessa Doederlein; Correia, Patricia S.; Moraes, Lúcia de Fátima Marques de; Llerena Junior, Juan Clinton; Giugliani, Roberto; Leistner-Segal, Sandra (2011) [Resumen publicado en evento] -
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives
Kubaski, Francyne; Sousa, Inês; Amorim, Tatiana; Pereira, Danilo; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Burlina, A.; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Tomatsu, Shunji; Giugliani, Roberto (2020) [Artículo de periódico]Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ... -
Neonatal screening for spinal muscular atrophy : a pilot study in Brazil
Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Lemos, Júlia Feltraco; Brasil, Carolina Serpa; Trapp, Franciele Barbosa; Saute, Jonas Alex Morales; Donis, Karina Carvalho; Becker, Michele Michelin; Wiest, Paloma; Coutinho, Vivian de Lima Spode; Castro, Simone Martins de; Ferreira, Juliana de Jesus Guimarães; Silveira, Cynthia; Bittar, Maria Fernanda Ribeiro; Wang, Cristina; Lana, Janaina M.; França Júnior, Marcondes Cavalcante; Giugliani, Roberto (2023) [Artículo de periódico]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. Testing for SMA has been recommended for inclusion in neonatal ... -
Nova variante no gene MARS : relação com uma rara neuropatia periférica Charcot-Marie-Tooth tipo 2
Padilha, Janice Pacheco Dias; Brasil, Carolina Serpa; Facchin, Ana Carolina Brusius; Saute, Jonas Alex Morales (2019) [Resumen publicado en evento] -
Padronização de um protocolo de extração orgânica de DNA de SIPF para uso na confirmação de casos alterados na triagem neonatal de doenças lisossômicas selecionadas
Netto, Alice Brinckmann Oliveira; Málaga, Diana Elizabeth Rojas; Kubaski, Francyne; Trapp, Franciele Barbosa; Giugliani, Roberto; Facchin, Ana Carolina Brusius (2020) [Resumen publicado en evento] -
Population medical genetics : translating science to the community
Giugliani, Roberto; Bender, Fernanda; Couto, Rowena Rubim Silva do; Bochernitsan, Aline Nemetz; Facchin, Ana Carolina Brusius; Burin, Maira Graeff; Amorim, Tatiana; Acosta, Angelina Xavier; Purificação, Antônio Conceição da; Leistner-Segal, Sandra; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Matte, Ursula da Silveira; Riegel, Mariluce; Santos, Augusto César Cardoso dos; Rodrigues, Graziella Ramos; Oliveira, Marcelo Zagonel de; Ribeiro, Alice Tagliani; Heck, Selia Maria; Dresch, Vanusa; Faccini, Lavinia Schuler; Kubaski, Francyne (2019) [Artículo de periódico]Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation ... -
Predição da consequência de substituição de aminoácidos do gene IDS através da análise in silico
Facchin, Ana Carolina Brusius; Rubim, Rowena; Giugliani, Roberto; Leistner-Segal, Sandra (2014) [Resumen publicado en evento] -
Progressão das paraparesias espásticas hereditárias de início infantil em coorte no sul do Brasil
Marchisio, Gabriela Giordani; Fussinger, Helena; Brighente, Samanta; Donis, Karina Carvalho; Facchin, Ana Carolina Brusius; Saute, Jonas Alex Morales (2020) [Resumen publicado en evento] -
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Kubaski, Francyne; Burlina, Alberto; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Poletto, Édina; Giugliani, Roberto (2022) [Artículo de periódico]Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin ... -
Resultados do protocolo de investigação molecular utilizado para o diagnóstico de pacientes com MPS II e familiares
Ferreira, Ândria Aquino; Couto, Rowena Rubim Silva do; Borchernitsan, Aline; Trapp, Franciele Barbosa; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra (2017) [Resumen publicado en evento] -
Resultados preliminares da análise molecular no gene IDS de paciente com síndrome de Hunter com suspeita de apresentar um rearranjo complexo
Abrahão, Luiza; Facchin, Ana Carolina Brusius; Silva, C. Z.; Schwartz, Ida Vanessa Doederlein; Giugliani, Roberto; Leistner-Segal, Sandra (2009) [Resumen publicado en evento] -
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Málaga, Diana Elizabeth Rojas; Facchin, Ana Carolina Brusius; Siebert, Marina; Pasqualim, Gabriela; Pereira, Maria Luiza Saraiva; Souza, Carolina Fischinger Moura de; Schwartz, Ida Vanessa Doederlein; Matte, Ursula da Silveira; Giugliani, Roberto (2019) [Artículo de periódico]Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a ... -
Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications in neonatal screening and diagnostic confirmation of lysosomal disorders
Netto, Alice Brinckmann Oliveira; Málaga, Diana Elizabeth Rojas; Kubaski, Francyne; Facchin, Ana Carolina Brusius; Giugliani, Roberto (2022) [Artículo de periódico]Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since its introduction for the neonatal screening of phenylketonuria almost 50 years ago. From that time onwards, the range of its ...