Search Results - "Aquino, Virginia"

Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus by Ortiz-Aljaro, Pilar, Montes-Cano, Marco Antonio, García-Lozano, José-Raúl, Aquino, Virginia, Carmona, Rosario, Perez-Florido, Javier, García-Hernández, Francisco José, Dopazo, Joaquín, González-Escribano, María Francisca

“…Systemic lupus erythematosus (SLE) is the prototype of an autoimmune disease. Belimumab, a monoclonal antibody targets BAFF, is the only biologic approved for…”
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A crowdsourcing database for the copy-number variation of the Spanish population by López-López, Daniel, Roldán, Gema, Fernández-Rueda, Jose L, Bostelmann, Gerrit, Carmona, Rosario, Aquino, Virginia, Perez-Florido, Javier, Ortuño, Francisco, Pita, Guillermo, Núñez-Torres, Rocío, González-Neira, Anna, Peña-Chilet, María, Dopazo, Joaquin

“…Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The…”
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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome by Vázquez-Costa, Juan Francisco, Payá-Montes, María, Martínez-Molina, Marina, Jaijo, Teresa, Szymanski, Jazek, Mazón, Miguel, Sopena-Novales, Pablo, Pérez-Tur, Jordi, Sevilla, Teresa

“…Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis…”
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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene by Baz-Redón, Noelia, Sánchez-Bellver, Laura, Fernández-Cancio, Mónica, Rovira-Amigo, Sandra, Burgoyne, Thomas, Ranjit, Rai, Aquino, Virginia, Toro-Barrios, Noemí, Carmona, Rosario, Polverino, Eva, Cols, Maria, Moreno-Galdó, Antonio, Camats-Tarruella, Núria, Marfany, Gemma

“…We report a novel missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but…”
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Organic residues influences the production and antioxidant activity of Campomanesia adamantium (Cambess.) O. Berg by Coelho, Dioelen Virginia Borges Souza de Aquino, Vieira, Maria do Carmo, Heredia-Zárate, Néstor Antônio, Carnevali, Thiago de Oliveira, Cardoso, Cláudia Andrea Lima, Carnevali, Natália Hilgert de Souza

“…ABSTRACT Campomanesia adamantium (Cambess.) O. Berg (guavira) is a native plant of the Cerrado and Pantanal, which has several medicinal activities and fruits…”
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SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data by Lopez‐Lopez, Daniel, Loucera, Carlos, Carmona, Rosario, Aquino, Virginia, Salgado, Josefa, Pasalodos, Sara, Miranda, María, Alonso, Ángel, Dopazo, Joaquín

“…Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous…”
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Sand Fly Fauna, Spatial Distribution of Lutzomyia longipalpis (Diptera: Psychodidae), and Climate Factors in Dourados, Brazil by Da Costa Lima-Junior, Manoel Sebastião, De Almeida, Paulo Silva, Da Silva, José Oliveira, Da Silva, Rosana Alexandre, Faccenda, Odival, Souza De Aquino Coelho, Dioelen Virgínia Borges, Costa, Gabriel Barbosa, De Souza, Agruslávia Rezende, Fernandes, Marcos Gino, Neitzke-Abreu, Herintha Coeto

“…Studies of the geographic distribution of sand flies and the factors associated with their occurrence are necessary to understand the risk of leishmaniasis…”
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CSVS, a crowdsourcing database of the Spanish population genetic variability by Peña-Chilet, María, Roldán, Gema, Perez-Florido, Javier, Ortuño, Francisco M, Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L, Gallego, Asunción, García-Garcia, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A, Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín

“…Abstract The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical…”
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Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel IRPGR/I Variant and Possible Modifier Gene by Baz-Redón, Noelia, Sánchez-Bellver, Laura, Fernández-Cancio, Mónica, Rovira-Amigo, Sandra, Burgoyne, Thomas, Ranjit, Rai, Aquino, Virginia, Toro-Barrios, Noemí, Carmona, Rosario, Polverino, Eva, Cols, Maria, Moreno-Galdó, Antonio, Camats-Tarruella, Núria, Marfany, Gemma

“…We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant,…”
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Characterization of the Common Genetic Variation in the Spanish Population of Navarre by Maillo, Alberto, Huergo, Estefania, Apellániz-Ruiz, María, Urrutia-Lafuente, Edurne, Miranda, María, Salgado, Josefa, Pasalodos-Sanchez, Sara, Delgado-Mora, Luna, Teijido, Óscar, Goicoechea, Ibai, Carmona, Rosario, Perez-Florido, Javier, Aquino, Virginia, Lopez-Lopez, Daniel, Peña-Chilet, María, Beltran, Sergi, Dopazo, Joaquín, Lasa, Iñigo, Beloqui, Juan José, Nagen-Scheme, Alonso, Ángel, Gomez-Cabrero, David

“…Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for…”
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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects by Martinez‐Delgado, Beatriz, Lopez‐Martin, Estrella, Lara‐Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez‐Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez‐Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, Cabrejas, Maria Jose, Gonzalez‐Vioque, Emiliano, Alonso, Javier, Bermejo‐Sánchez, Eva, Posada, Manuel

“…Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and…”
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E-Modelo: A Talent Management Website Application by Angeles, Faye Louvelle P., Aquino, Clarice Virginia A., Reyes, Alexandria Nicole R., Intal, Grace Lorraine D.

“…Talents or artists such as actors and models are vital in the entertainment industry. They are considered as the face of a specific media which may influence…”
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Emerging BCR/ABL1 Mutations Under Treatment with Tyrosine Kinase Inhibitors in Paediatric Acute Lymphoblastic Leukaemia by Molinos-Quintana, Agueda, Aquino, Virginia, Montero, Isabel, Pérez-de Soto, Concepción, García-Lozano, Raúl, Pérez-Simón, José Antonio, Pérez-Hurtado, José María

“…We report on the emergence and clinical relevance of an unusual BCR-ABL1 kinase domain mutational status in a 2-year-old female with p210-BCR-ABL Philadelphia…”
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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects by Martinez-Delgado, Beatriz, Lopez-Martin, Estrella, Lara-Herguedas, Julián, Monzon, Sara, Cuesta, Isabel, Juliá, Miguel, Aquino, Virginia, Rodriguez-Martin, Carlos, Damian, Alejandra, Gonzalo, Irene, Gomez-Mariano, Gema, Baladron, Beatriz, Cazorla, Rosario, Iglesias, Gema, Roman, Enriqueta, Ros, Purificacion, Tutor, Pablo, Mellor, Susana, Jimenez, Carlos, Cabrejas, Maria Jose, Gonzalez-Vioque, Emiliano, Alonso, Javier, Bermejo-Sánchez, Eva, Posada, Manuel

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THE SAND FLY SPECIES (DIPTERA: PSYCHODIDAE) IN AN URBAN ENVIRONMENT OF MATO GROSSO DO SUL, BRAZIL by Silva de Almeida, Paulo, Moreira Silva, Talita, Francisca Moreira, Rosilene, Fukuda Mariano, Vanessa, Prudencio Oliveira Neto, Miguel, Virginia Borges Souza de Aquino, Dioelen, Coeto Neitzke-Abreu, Herintha, Mayr de Lima Carvalho, Gustavo, Dilermando Andrade Filho, Jose

“…The purpose of this study was to search for Lutzomyia longipalpis and Lutzomyia cruzi in the urban area of the Água Clara Municipality, Mato Grosso do Sul…”
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Organic residues influences the production and antioxidant activity of Campomanesia adamantium (Cambess.) O. Berg. 1 by Coelho, Dioelen Virginia Borges Souza de Aquino, Vieira, Maria do Carmo, Heredia-Zárate, Néstor Antônio, Carnevali, Thiago de Oliveira, Cardoso, Claudia Andrea Lima, Carnevali, Natália Hilgert de Souza

“…An alternative is the use of organic residues that can influence the chemical, physical and biological characteristics of soils and consequently increase plant…”
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Qualidade da educação a distância e o uso das tecnologias de informação e comunicação by Joshiley Coelho Guindo de Aquino, Franciele Nunes de Oliveira, Luciana Aparecida de Carvalho Barbosa, Dioelen Virginia Borges Souza de Aquino Coelho

“…This article resulted from a study conducted in the course of Postgraduate Sensu Lato Media in Education from the Federal University of Mato Grosso do Sul in…”
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