Search Results - "Goldschmidt, Ernesto"

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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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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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder by Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, San-Martín, Esteban A, Silván, Cristina, Santos-Simarro, Fernando, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo

“…DDX3X is a multifunctional ATP-dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle…”
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients by Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C, Ruiz-Pérez, Víctor L, Tizzano, Eduardo F, Lapunzina, Pablo

“…Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a…”
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Encefalopatía epiléptica de debut neonatal: Mutación del gen KCNQ2 by Zurbriggen, Candela, Janis, Constanza, Berazategui, Juan Pablo, Goldschmidt, Ernesto, López, Lucrecia, Ferrer, Juan Manuel

“…Introducción: el gen KCNQ2 codifica una subunidad formadora de canales de potasio que se encuentran en las neuronas, éstas transmiten señal eléctrica y así las…”
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Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome by Marmo Lupano, José P, Medina, María S, Bosch, Juan J, Negrin, Leticia, Artero, Guillermo, Goldschmidt, Ernesto, José, Carolina, Díaz, Sandra B, Bernatzky, Agustín, Berazategui, Juan P

“…If newborns have an airway obstruction, they require urgent and expert management to avoid mortality and morbidity. The definition of difficult airway includes…”
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Study on the prevalence and neonatal lethality in patients with selected congenital anomalies as per the data of the National Registry of Congenital Anomalies of Argentina by Bidondo, María Paz, Groisman, Boris, Gili, Juan A, Liascovich, Rosa, Barbero, Pablo, Pingray, Verónica

“…Congenital anomalies (CAs) account for 26% of infant mortality in Argentina. The lethality rate for CAs measures the risk of death among affected infants. To…”
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Phenotypic variability in 47, XXX patients: Clinical report of four new cases by Goldschmidt, Ernesto, Márquez, Marisa, Solari, Andrea, Ziembar, María I, Laudicina, Alejandro

“…The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are…”
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Deleción de los genes LIS1, ASPA, TRPV1 y CAMTA2 de la región 17p13.3 en un paciente con síndrome de Miller-Dieker by Laurito, Sergio, Goldschmidt, Ernesto, Márquez, Marisa, Roqué, María

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Smith-Magenis syndrome: case report and review by Bronberg, Rubén, Ziembar, María, Drut, Mónica, Goldschmidt, Ernesto

“…Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral…”
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Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome by Laurito, S, Goldschmidt, E, Marquez, M, Roque, M

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Variabilidad fenotípica en pacientes 47, XXX: Presentación de cuatro casos nuevos by Goldschmidt, Ernesto, Márquez, Marisa, Solari, Andrea, Ziembar, María I., Laudicina, Alejandro

“…El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele…”
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Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes by Borelina, Daniel, Engel, Nora, Esperante, Sebastian, Ferreiro, Veronica, Ferrer, Marcela, Torrado, Maria, Goldschmidt, Ernesto, Francipane, Liliana, Szijan, Irene

“…Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS)…”
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Síndrome de Smith-Magenis: comunicación de un caso y revisión de la bibliografía by Bronberg, Rubén, Ziembar, María, Drut, Mónica, Goldschmidt, Ernesto

“…El síndrome de Smith-Magenis (SSM) consta de apariencia facial característica que progresa con la edad, retraso en el desarrollo, déficit cognitivo y…”
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Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome by Marmo Lupano, José P, Medina, María S, Bosch, Juan J, Negrin, Leticia, Artero, Guillermo, Goldschmidt, Ernesto, José, Carolina, Díaz, Sandra B, Bernatzky, Agustín, Berazategui, Juan P

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Deletions of 2q: is there a 2q- syndrome? by Sánchez, J M, Goldschmidt, E L

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