Search Results - "Lotersztein, Vanesa"

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches by Buonfiglio, Paula I., Bruque, Carlos D., Lotersztein, Vanesa, Luce, Leonela, Giliberto, Florencia, Menazzi, Sebastián, Francipane, Liliana, Paoli, Bibiana, Goldschmidt, Ernesto, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the…”
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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON) by Buonfiglio, Paula I, Menazzi, Sebastián, Francipane, Liliana, Lotersztein, Vanesa, Ferreiro, Verónica, Elgoyhen, Ana Belén, Dalamón, Viviana

“…The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an…”
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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system by Espeche, Lucía Daniela, Solari, Andrea Paula, Mori, María Ángeles, Arenas, Rubén Martín, Palomares, María, Pérez, Myriam, Martínez, Cinthia, Lotersztein, Vanesa, Segovia, Mabel, Armando, Romina, Dain, Liliana Beatriz, Nevado, Julián, Lapunzina, Pablo, Rozental, Sandra

“…Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination…”
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Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report by Buda, Guadalupe, Valdez, Rita María, Biagioli, German, Olivieri, Federico A, Affranchino, Nicolás, Bouso, Carolina, Lotersztein, Vanesa, Bogunovic, Dusan, Bustamante, Jacinta, Martí, Marcelo A

“…Interferon-stimulated gene 15 ( was the first ubiquitin-like modifier protein identified that acts by protein conjugation (ISGylation) and is thought to…”
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GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population by Dalamón, Viviana, Lotersztein, Vanesa, Béhèran, Agustina, Lipovsek, Marcela, Diamante, Fernando, Pallares, Norma, Francipane, Liliana, Frechtel, Gustavo, Paoli, Bibiana, Mansilla, Enrique, Diamante, Vicente, Elgoyhen, Ana Belén

“…Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of…”
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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON) by Paula I. Buonfiglio, Sebastián Menazzi, Liliana Francipane, Vanesa Lotersztein, Verónica Ferreiro, Ana Belén Elgoyhen, Viviana Dalamón

“…The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an…”
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Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome by Buonfiglio, Paula Inés, Izquierdo, Agustín, Pace, Mariela Vanina, Grinberg, Sofia, Lotersztein, Vanesa, Brun, Paloma, Bruque, Carlos David, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing…”
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Identification of copy‐number variants in patients with overgrowth disorders by Miranda‐Alcaraz, Lucía, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Arroyo, Ignacio, Galán, Enrique, Blanquer, Aleixandre, Garcı'a‐Alix, Alfredo, Santana, Alfredo, Alonso, Almudena, Gar‐cía, Ana Patiño, Bredani, Analía, Villavicencio, Andrea, Acosta, Angelina, González, Anna María Cueto, Baldellón, Antonio, Meneses, Antonio González, Gener, Blanca, Groisman, Boris, Perando‐nes, Claudia, Olivas, Cristina, Armenta, Daniel, Elorza, Dolores, Zamora, Elena, Zambrano, Elisa, Steichen, Elisabeth, Cruz, Enrique Caro, Gómez, Enrique Galán, Román, Enriqueta, Goldschmidt, Ernesto, Marfil, Esteban, Antolín, Eugenia, Ramos, Feliciano, Grondona, Fermina López, Martínez, Francisco, Uzielli, Giovannucci, Mercado, Graciela, Cassinelli, Hamilton, Arroyo, Ignacio, Pascual, Ignacio Pascual, Rio, Ignacio Vázquez, Bueno, Inés, Sánchez, Isabel Lorda, Campistol, Jaume, Arcas, Javier, Planells, Javier García, Liria, María José Jiménez, Almeida, José Carlos Cabral, Labarta, José Ignacio, Fuster, José Luis, Gutiérrez, Juan Carlos López, López Siguero, Juan P., Lara, Julián, Arranz, Leonor, Soriano, Leandro, De Alba, Liliana, Mar‐torell, Loreto, Jurado, Luis Pérez, Lozano, M. Ferrer, Merillas, M. Jesús Alija, Pérez, María Asunción García, Segovia, Mabel, Martínez, Margarita, Tabernero, Margarita, Ramos, María Antonia, Ballesta, Maria, Guardia, M. Nieves Martínez, Artigas, Mercedes, Villanueva, Mercedes, Campo, Miguel, Rosello, Mónica, Kantaputra, Nik, Matos, Pablo Prieto, Casano, Paula, Mallada, Paula Lalaguna, Olivares, Pe‐dro, Delgado, Raquel Perez, Bernardi, Priscila, León, Rafael Camino, Villaverde, Raquel Sáez, Gracia, Ricardo, Scott, Richard, Valdez, Rita, Arteaga, Rosa, Cazorla, Rosario, Iglesias, Rosario Marín, Bronberg, Rubén, Barreiro, Santiago Conde, Kapoor, Seema, Lopez, Trinidad García, Vendrell, Teresa, Tirado, Pilar, Huertos, Alicia Ureta, Lotersztein, Vanesa, Martín, Selma Vázquez, Seidel, Verónica, Albiach, Vicente, Soler, Virgina, Cosentino, Viviana, Lapunzina, Pablo

“…Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that the weight, height or the head circumference are above…”
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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort by Buonfiglio, Paula, Bruque, Carlos D., Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis…”
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GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort by Buonfiglio, Paula, Bruque, Carlos D, Luce, Leonela, Giliberto, Florencia, Lotersztein, Vanesa, Menazzi, Sebastián, Paoli, Bibiana, Elgoyhen, Ana Belén, Dalamón, Viviana

“…Genetic variants in 2 and 6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables…”
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Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report by Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén

“…Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary…”
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Connexin 26 syndrome: a case report by Dalamon, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belnn

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina by Schlottmann, Patricio G., Luna, José D., Labat, Natalia, Yadarola, María Belén, Bainttein, Silvina, Esposito, Evangelina, Ibañez, Agustina, Barbaro, Evangelina Ivón, Álvarez Mendiara, Alejandro, Picotti, Carolina P., Chirino Misisian, Andrea, Andreussi, Luciana, Gras, Julieta, Capalbo, Luciana, Visotto, Mauro, Dipierri, José E., Alcoba, Emilio, Fernández Gabrielli, Laura, Ávila, Silvia, Aucar, María Emilia, Martin, Daniel M., Ormaechea, Gerardo Juan, Inga, M. Eugenia, Francone, Aníbal A., Charles, Martin, Zompa, Tamara, Pérez, Pablo Javier, Lotersztein, Vanesa, Nuova, Pedro J., Canonero, Ivana B., Mahroo, Omar A., Michaelides, Michel, Arno, Gavin, Daich Varela, Malena

“…This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile…”
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Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype–phenotype analysis in moderate cases by Dalamón, Viviana, Florencia Wernert, M., Lotersztein, Vanesa, Craig, Patricio O., Diamante, Raúl Reynoso, Barteik, María E., Curet, Carlos, Paoli, Bibiana, Mansilla, Enrique, Elgoyhen, Ana Belén

“…This paper presents a mutation as well as a genotype–phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf…”
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Acitretin embryopathy: A case report by Barbero, Pablo, Lotersztein, Vanesa, Bronberg, Ruben, Perez, Miriam, Alba, Liliana

“…BACKGROUND Acitretin is an aromatic retinoid analog of vitamin A. Drugs of this group are well‐known teratogenic agents. Nevertheless, acitretin embryopathy…”
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Performance of speech perception after cochlear implantation in DFNB1 patients by Dalamón, Viviana, Lotersztein, Vanesa, Lipovsek, Marcela, Bèherán, Agustina, Mondino, Maria Elena, Diamante, Fernando, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belen

“…Conclusion: There were no apparent differences in speech performance after cochlear implantation between patients with biallelic GJB2 and/or GJB6 mutations and…”
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