Search Results - "Da Silva, Luciana Rodrigues Jacy"

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies by Ceroni, Fabiola, Aguilera-Garcia, Domingo, Chassaing, Nicolas, Bax, Dorine Arjanne, Blanco-Kelly, Fiona, Ramos, Patricia, Tarilonte, Maria, Villaverde, Cristina, da Silva, Luciana Rodrigues Jacy, Ballesta-Martínez, Maria Juliana, Sanchez-Soler, Maria Jose, Holt, Richard James, Cooper-Charles, Lisa, Bruty, Jonathan, Wallis, Yvonne, McMullan, Dominic, Hoffman, Jonathan, Bunyan, David, Stewart, Alison, Stewart, Helen, Lachlan, Katherine, Fryer, Alan, McKay, Victoria, Roume, Joëlle, Dureau, Pascal, Saggar, Anand, Griffiths, Michael, Calvas, Patrick, Ayuso, Carmen, Corton, Marta, Ragge, Nicola K

“…GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset…”
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice by Sanchez-Alcudia, Rocio, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel Angel, Sanchez-Bolivar, Noelia, Zurita, Olga, Gimenez, Ascension, Villaverde, Cristina, Rodrigues-Jacy da Silva, Luciana, Corton, Marta, Perez-Carro, Raquel, Torriano, Simona, Kalatzis, Vasiliki, Rivolta, Carlo, Avila-Fernandez, Almudena, Lorda, Isabel, Trujillo-Tiebas, Maria J, Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Ayuso, Carmen

“…Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the…”
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations by Avila-Fernandez, Almudena, Perez-Carro, Raquel, Corton, Marta, Lopez-Molina, Maria Isabel, Campello, Laura, Garanto, Alejandro, Fernandez-Sanchez, Laura, Duijkers, Lonneke, Lopez-Martinez, Miguel Angel, Riveiro-Alvarez, Rosa, Da Silva, Luciana Rodrigues Jacy, Sanchez-Alcudia, Rocío, Martin-Garrido, Esther, Reyes, Noelia, Garcia-Garcia, Francisco, Dopazo, Joaquin, Garcia-Sandoval, Blanca, Collin, Rob W J, Cuenca, Nicolas, Ayuso, Carmen

“…Retinitis pigmentosa (RP) is a group of progressive inherited retinal dystrophies that cause visual impairment as a result of photoreceptor cell death. RP is…”
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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report by Blanco-Kelly, Fiona, Rodrigues-Jacy da Silva, Luciana, Sanchez-Navarro, Iker, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel Angel, Corton, Marta, Ayuso, Carmen

“…CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile…”
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Spinal muscular atrophy due to a “de novo” 1.3 Mb deletion: Implication for genetic counseling by da Silva, Luciana Rodrigues Jacy, Colovati, Mileny Esbravatti Stephano, Coprerski, Bruno, de Andrade, Carlos Eugênio Fernandez, Zanoteli, Edmar, Raskin, Salmo, Oliveira, Mariana Moysés, Melaragno, Maria Isabel, Perez, Ana Beatriz Alvarez

“…Abstract We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two…”
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Spinal muscular atrophy due to a “de novo” 1.3Mb deletion: Implication for genetic counseling by da Silva, Luciana Rodrigues Jacy, Colovati, Mileny Esbravatti Stephano, Coprerski, Bruno, de Andrade, Carlos Eugênio Fernandez, Zanoteli, Edmar, Raskin, Salmo, Oliveira, Mariana Moysés, Melaragno, Maria Isabel, Perez, Ana Beatriz Alvarez

“…We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of…”
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Spinal muscular atrophy due to a ade novoa 1.3 Mb deletion: Implication for genetic counseling by da Silva, Luciana Rodrigues Jacy, Colovati, Mileny Esbravatti Stephano, Coprerski, Bruno, de Andrade, Carlos Eugenio Fernandez, Zanoteli, Edmar, Raskin, Salmo, Oliveira, Mariana Moyses, Melaragno, Maria Isabel, Perez, Ana Beatriz Alvarez

“…We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of…”
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Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil by da Silva, Luciana Rodrigues Jacy, Vergani, Naja, Galdieri, Luciano de Camargo, Ribeiro Porto, Marianna Picarelli, Longhitano, Silvia Bragagnolo, Brunoni, Decio, D'Almeida, Vânia, Alvarez Perez, Ana Beatriz

“…Associations between specific alleles of genes encoding enzymes in the methionine/homocysteine pathway and plasma homocysteine levels have been examined in…”
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