Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Víctor Raggio"'
Autor:
Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundNeuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairm
Externí odkaz:
https://doaj.org/article/9452342d8bfa40aea42e7d1bccdf59a3
Autor:
Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, Hugo Naya, Adriana Cassina, Celia Quijano, Lucía Spangenberg
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-13 (2023)
Abstract The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studie
Externí odkaz:
https://doaj.org/article/f35c45e2195e44afad8c9bf9a1ead789
Autor:
María Noel Spangenberg, Sofía Grille, Camila Simoes, Mariana Brandes, Joaquín Garcia-Luna, Ana Inés Catalán, Sabrina Ranero, Matilde Boada, Andreína Brugnini, Natalia Trias, Daniela Lens, Víctor Raggio, Lucía Spangenberg
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
BackgroundCommon variable immunodeficiency disorders (CVIDs), which are primary immunodeficiencies characterized by the failure of primary antibody production, typically present with recurrent bacterial infections, decreased antibody levels, autoimmu
Externí odkaz:
https://doaj.org/article/7cdbe4bca9b24868a4158144a9fbb5b8
Autor:
Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell’Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuron
Externí odkaz:
https://doaj.org/article/e209cb2804a646d3b38658e075a78ca2
Publikováno v:
Diagnostics, Vol 14, Iss 3, p 313 (2024)
The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and
Externí odkaz:
https://doaj.org/article/cc8d7b70eb534940b583ee65ff0a2ec0
Autor:
Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
Abstract Background Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the qual
Externí odkaz:
https://doaj.org/article/08b04bba944b49f68cb837b2d586bf94
Publikováno v:
Anales de la Facultad de Medicina, Vol 8, Iss 2, Pp e402-e402 (2021)
La Retinosquisis ligada al X, que se presenta fundamentalmente en varones, es una enfermedad genética caracterizada por agudeza visual reducida debido a degeneración macular. Su prevalencia es de 1/5000 varones en todo el mundo. Se manifiesta desde
Externí odkaz:
https://doaj.org/article/9f857be4db164ac2a0766a1f975e1f41
Autor:
Ana Cecília Guimarães Alves, Natalie Mary Sukow, Gabriel Adelman Cipolla, Marla Mendes, Thiago P. Leal, Maria Luiza Petzl-Erler, Ricardo Lehtonen Rodrigues Souza, Ilíada Rainha de Souza, Cesar Sanchez, Meddly Santolalla, Douglas Loesch, Michael Dean, Moara Machado, Jee-Young Moon, Robert Kaplan, Kari E. North, Scott Weiss, Mauricio L. Barreto, M. Fernanda Lima-Costa, Heinner Guio, Omar Cáceres, Carlos Padilla, Eduardo Tarazona-Santos, Ignacio F. Mata, Elena Dieguez, Víctor Raggio, Andres Lescano, Vitor Tumas, Vanderci Borges, Henrique B. Ferraz, Carlos R. Rieder, Artur Schumacher-Schuh, Bruno L. Santos-Lobato, Pedro Chana-Cuevas, William Fernandez, Gonzalo Arboleda, Humberto Arboleda, Carlos E. Arboleda-Bustos, Timothy D. O’Connor, Marcia Holsbach Beltrame, Victor Borda
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the
Externí odkaz:
https://doaj.org/article/83fade9eedf24b7d99f1452beb4bd4e7
Autor:
Lucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, Susana Vivas, Soledad Rodríguez, Martín Graña, Hugo Naya, Víctor Raggio
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Abstract Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, s
Externí odkaz:
https://doaj.org/article/b48c21544e2d4df2996f1aeabfa70ca4
Publikováno v:
Informatics in Medicine Unlocked, Vol 15, Iss , Pp - (2019)
In this paper, we introduce a framework for processing genetics and genomics literature, based on ontologies and lexical resources from the biomedical domain. The main objective is to support the diagnosis process that is done by medical geneticists
Externí odkaz:
https://doaj.org/article/f51c23e3af2e4e31a8078c0801ab1ad3