Search Results - "Izquierdo, Agustín"

Comprehensive Evolutionary Analysis of Complete Epstein–Barr Virus Genomes from Argentina and Other Geographies by Blazquez, Ana Catalina, Berenstein, Ariel José, Torres, Carolina, Izquierdo, Agustín, Lezama, Carol, Moscatelli, Guillermo, De Matteo, Elena Noemí, Lorenzetti, Mario Alejandro, Preciado, María Victoria

“…The sequence variability of the Epstein–Barr virus has been extensively studied throughout previous years in isolates from various geographic regions and…”
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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome by Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

“…Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome…”
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Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation by Natale, Mónica Inés, Manzur, Graciela Beatriz, Lusso, Silvina Beatriz, Cella, Eliana, Giovo, María Elsa, Andrada, Romina, Goitia, Juana, Fernández, María Florencia, Della Giovanna, Patricia Silvia, Guillamondegui, María José, Domínguez, Mariángeles, Gutiérrez, Olga, Izquierdo, Agustín, Hernández Herrera, Heliana, Velázquez Perdomo, Luz Graciela, Mistchenko, Alicia Susana, Valinotto, Laura Elena

“…Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes…”
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Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report by Castro, Sebastián, Brunello, Franco G, Sansó, Gabriela, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Villegas, Florencia, Bergadá, Ignacio, Ropelato, María Gabriela, Martí, Marcelo A, Rey, Rodolfo A, Grinspon, Romina P

“…Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general…”
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Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development by Correa Brito, Lourdes, Grinspon, Romina P, Lopez Dacal, Jimena, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Ropelato, María Gabriela, Rey, Rodolfo A

“…In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this…”
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease by Delea, Marisol, Massara, Lucia S, Espeche, Lucia D, Bidondo, María Paz, Barbero, Pablo, Oliveri, Jaen, Brun, Paloma, Fabro, Mónica, Galain, Micaela, Fernández, Cecilia S, Taboas, Melisa, Bruque, Carlos D, Kolomenski, Jorge E, Izquierdo, Agustín, Berenstein, Ariel, Cosentino, Viviana, Martinoli, Celeste, Vilas, Mariana, Rittler, Mónica, Mendez, Rodrigo, Furforo, Lilian, Liascovich, Rosa, Groisman, Boris, Rozental, Sandra, Dain, Liliana, On Behalf Of The Pid Acm-Cc Group

“…Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA)…”
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A myiasis model for Philornis torquans (Diptera: Muscidae) and Pitangus sulphuratus (Passeriformes: Tyrannidae) by López, Leonardo, Izquierdo, Agustin, Manzoli, Darío, Beldoménico, Pablo, Giovanini, Leonardo

“…•We construct a simple hostparasite model in order to replicate myiasis dynamics.•The implemented model consist in two weakly coupled models, one for each…”
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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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Computer aided tool for diagnosis of ENT pathologies using digital signal processing of speech and stroboscopic images by Zorrilla, Amaia Méndez, Zapirain, Begoña García, Izquierdo, Agustín Pérez

“…The development of computer software and other technologies greatly facilitates the evaluation of pathological voice patients. This fact allows to reduce…”
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OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH by Brunello, Franco, Sansó, E Gabriela, Scaglia, Paula, Azcoiti, María Esnaola, Berenstein, Ariel, Izquierdo, Agustín, Bedecarrás, Patricia, Martí, Marcelo, Ropelato, M Gabriela, Rey, Rodolfo Alberto, Grinspon, Romina, Freire, Analía

“…Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are normally…”
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La masificación del ajedrez y la asistencia de las personas de la tercera edad a los círculos de abuelos de la comunidad Sandino by Izquierdo Núñez, Ángel Agustín

“…Nuestro  comandante  en  jefe, como  impulsor  de  las  obras  de  la  batalla  de   ideas,  no dejo de ver  la necesidad de  que nuestros  …”
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Hongos tremeloides (Heterobasidiomycetes) de la Reserva de la Biosfera de Calakmul, Campeche, México by Sierra, Sigfrido, Rodríguez-Gutiérrez, Ibeth, Izquierdo-San Agustín, Laura Adriana, Castro-Santiuste, Sandra, Cifuentes, Joaquín, Pérez-Ramírez, Lilia

“…Se registran 7 especies de hongos tremeloides de la Reserva de la Biosfera de Calakmul: Auricularia cornea Ehrenb., A. delicata (Fr.) Henn., A. mesenterica…”
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Temporal bone secretory meningioma presenting as a middle ear mass by Ereño, Cosme, Izquierdo, Agustín Pérez, Basurko, José M., Bilbao, Francisco J., López, José I.

“…A 44-year-old woman presented with a history of increasing left hypoacusis and sporadic vertigo. CT scan revealed a tumor occupying the mastoid, middle ear,…”
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Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development by Correa Brito, Lourdes, Grinspon, Romina P, Lopez Dacal, Jimena, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Ropelato, María Gabriela, Rey, Rodolfo A

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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome by Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

“…Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome…”
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Sobre la ficción y el Estado en Platón y Nietzsche by Agustín Izquierdo

“…Sin resumen…”
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Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report by Castro, Sebastián, Brunello, Franco G, Sansó, Gabriela, Scaglia, Paula, Esnaola Azcoiti, María, Izquierdo, Agustín, Villegas, Florencia, Bergadá, Ignacio, Ropelato, María Gabriela, Martí, Marcelo A, Rey, Rodolfo A, Grinspon, Romina P

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Hongos tremeloides (Heterobasidiomycetes) de la Reserva de la Biosfera de Calakmul, Campeche, México by Sierra, Sigfrido, Rodríguez-Gutiérrez, Ibeth, Izquierdo-San Agustín, Laura Adriana, Castro-Santiuste, Sandra, Cifuentes, Joaquín, Pérez-Ramírez, Lilia

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Hongos tremeloides (Heterobasidiomycetes) de la Reserva de la Biosfera de Calakmul, Campeche, México Tremelloid fungi (Heterobasidiomycetes) from Calakmul Biosphere Reserve, Campeche, Mexico by Sigfrido Sierra, Ibeth Rodríguez-Gutiérrez, Laura Adriana Izquierdo-San Agustín, Sandra Castro-Santiuste, Joaquín Cifuentes, Lilia Pérez-Ramírez

“…Se registran 7 especies de hongos tremeloides de la Reserva de la Biosfera de Calakmul: Auricularia cornea Ehrenb., A. delicata (Fr.) Henn., A. mesenterica…”
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