Search Results - "Oliveira, Márcia E."

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene ( DMD ) by Gonçalves, Ana, Fortuna, Ana, Ariyurek, Yavuz, Oliveira, Márcia E, Nadais, Goreti, Pinheiro, Jorge, den Dunnen, Johan T, Sousa, Mário, Oliveira, Jorge, Santos, Rosário

“…While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require…”
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VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients by R Pinto, Filipe, Lamas, António, G Oliveira, Daniel, E Oliveira, Márcia, Faria, Raquel

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New massive parallel sequencing approach improves the genetic characterization of congenital myopathies by Oliveira, Jorge, Gonçalves, Ana, Taipa, Ricardo, Melo-Pires, Manuel, Oliveira, Márcia E, Costa, José Luís, Machado, José Carlos, Medeiros, Elmira, Coelho, Teresa, Santos, Manuela, Santos, Rosário, Sousa, Mário

“…Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during…”
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X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy by Carvalho, Andreia, Costa, Carmen, Pinto, Miguel, Taipa, Ricardo, Gonçalves, Ana, Oliveira, Márcia E, Ferreira, Sofia, Ribeiro, Joana Afonso

“…X-linked myotubular myopathy (XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the gene encoding myotubularin, is typically…”
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Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database by Oliveira, Jorge, Oliveira, Márcia E, Kress, Wolfram, Taipa, Ricardo, Pires, Manuel Melo, Hilbert, Pascale, Baxter, Peter, Santos, Manuela, Buermans, Henk, den Dunnen, Johan T, Santos, Rosário

“…Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain…”
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The Import Competence of a Peroxisomal Membrane Protein Is Determined by Pex19p before the Docking Step by Pinto, Manuel P., Grou, Cláudia P., Alencastre, Inês S., Oliveira, Márcia E., Sá-Miranda, Clara, Fransen, Marc, Azevedo, Jorge E.

“…Biogenesis of the mammalian peroxisomal membrane requires the action of Pex3p and Pex16p, two proteins present in the organelle membrane, and Pex19p, a protein…”
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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes by Oliveira, Jorge, Gruber, Angela, Cardoso, Márcio, Taipa, Ricardo, Fineza, Isabel, Gonçalves, Ana, Laner, Andreas, Winder, Thomas L., Schroeder, Jocelyn, Rath, Julie, Oliveira, Márcia E., Vieira, Emília, Sousa, Ana Paula, Vieira, José Pedro, Lourenço, Teresa, Almendra, Luciano, Negrão, Luís, Santos, Manuela, Melo‐Pires, Manuel, Coelho, Teresa, den Dunnen, Johan T., Santos, Rosário, Sousa, Mário

“…Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early‐onset muscle disease, caused by disease‐associated variants in the…”
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Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis by Tavares, Isabel, Silvano, José, Moreira, Luciana, Oliveira, Márcia E., Silva, Roberto, Sampaio, Susana, Costa, Paulo Pinho, Lobato, Luísa

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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant by Tavares, Isabel, Oliveira, Márcia E., Maia, Nuno, Moreira, Luciana, Castro Lacerda, Pedro, Santos, Josefina, Santos, Rosário, Pinho Costa, Paulo, Lobato, Luísa

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Protein translocation across the peroxisomal membrane by Azevedo, Jorge E, Costa-Rodrigues, João, Guimarães, Carla P, Oliveira, Mãrcia E, Sã-Miranda, Clara

“…Peroxisomal matrix proteins are synthesized on free cytosolic ribosomes and posttranslationally imported into the organelle. Translocation of these newly…”
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Atypical phenotype in two patients with LAMA2 mutations by Marques, Joana, Duarte, Sofia T, Costa, Sónia, Jacinto, Sandra, Oliveira, Jorge, Oliveira, Márcia E, Santos, Rosário, Bronze-da-Rocha, Elsa, Silvestre, Ana Rita, Calado, Eulália, Evangelista, Teresinha

“…Abstract Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with…”
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Insertion of Pex5p into the Peroxisomal Membrane Is Cargo Protein-dependent by Gouveia, Alexandra M, Guimarães, Carla P, Oliveira, Márcia E, Sá-Miranda, Clara, Azevedo, Jorge E

“…It is now generally accepted that Pex5p, the receptor for most peroxisomal matrix proteins, cycles between the cytosol and the peroxisomal compartment…”
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The Energetics of Pex5p-mediated Peroxisomal Protein Import by Oliveira, Márcia E., Gouveia, Alexandra M., Pinto, Rui A., Sá-Miranda, Clara, Azevedo, Jorge E.

“…Most newly synthesized peroxisomal matrix proteins are targeted to the organelle by Pex5p, the peroxisomal cycling receptor. According to current models of…”
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Characterization of the Peroxisomal Cycling Receptor, Pex5p, Using a Cell-free in Vitro Import System by Gouveia, Alexandra M., Guimarães, Carla P., Oliveira, Márcia E., Reguenga, Carlos, Sá-Miranda, Clara, Azevedo, Jorge E.

“…According to current models of peroxisomal biogenesis, Pex5p cycles between the cytosol and the peroxisome transporting newly synthesized proteins to the…”
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Characterization of the peroxisomal cycling receptor Pex5p import pathway by Gouveia, Alexandra M, Guimarães, Carla P, Oliveira, Márcia E, Reguenga, Carlos, Sá-Miranda, Clara, Azevedo, Jorge E

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BROWN TUMOR IN A PATIENT WITH RENAL FAILURE AND SECONDARY HYPERPARATHYROIDISM by DE LIMA, TAIANE BERGUEMAIER, DAROIT, NATÁLIA BATISTA, DE CAMPOS HILDEBRAND, LAURA, DE OLIVEIRA, MÁRCIA GAIGER, VISIOLI, FERNANDA

“…A 28-year-old woman sought care due to an increase in mandible volume lasting approximately 1 year. The patient had chronic kidney disease caused by Berger…”
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MULTIPLE PRIMARY SQUAMOUS CELL CARCINOMAS OF THE LOWER LIP AND TONGUE: A CASE REPORT by DA SILVA SANTOS, INGRID, CARRARD, VINICIUS COELHO, DE OLIVEIRA, MÁRCIA GAIGER, RADOS, PANTELIS VARVAKI, FLORES, ISADORA LUANA

“…Multiple primary oral squamous cell carcinomas (SCCs) are rare in clinical practice. A 62-year-old white male patient, a tobacco culture work farmer, was…”
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SYNCHRONIC CARCINOMAS CUNICULATUM IN THE MAXILLA - A CASE REPORT by PROHNY, JOÃO PAULO STANISLOVICZ, ZANELLA, VIRGÍLIO GONZALES, PIAS, ARTHUR SALGUEIRO, DE OLIVEIRA, MÁRCIA GAIGER, MARTINS, MARCO ANTONIO TREVIZANI, KROEF, RICARDO GALLICCHIO, CARRARD, VINICIUS COELHO

“…Carcinoma cuniculatum (CC) is a rare malignant neoplasm. A 66-year-old female patient presented with asymptomatic gingival swelling in the left maxilla…”
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PP - IMMUNOEXPRESSION OF MMPS-1, -2 AND -9 IN KERATOCYSTIC ODONTOGENIC TUMORS by DA ROCHA VIEIRA, RÚBIA, MORAES, CAROLINI, SOTO, MARIA INÉS, DE OLIVEIRA, MÁRCIA GAIGER, SANT´ANA FILHO, MANOEL

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PP - EFFECT OF INHALED BUDESONIDE IN PALATINE MUCOSA OF WISTAR RATS by DA ROCHA VIEIRA, RÚBIA, LEITE, MAURO GOMES TREIN, VISIOLI, FERNANDA, DE OLIVEIRA, MÁRCIA GAIGER, CAVAGNI, JULIANO, RÖSING, CASSIANO KUCHENBECKER, SANT'ANA FILHO, MANOEL

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