Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Nicolás Dell'Oca"'
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
Autor:
María Noel, Spangenberg, Sofia, Grille, Camila, Simoes, Nicolás, Dell'Oca, Matilde, Boada, Cecilia, Guillermo, Victor, Raggio, Lucía, Spangenberg
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
We present the case of a 53-yr-old woman with an inherited bone marrow failure coexisting with uncommon extrahematological symptoms, such as cirrhosis and skin abnormalities. Whole-exome sequencing revealed a diagnosis of Shwachman-Diamond syndrome (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e3d00770623d0d24ae3342359dd5b81
https://pubmed.ncbi.nlm.nih.gov/36577524
https://pubmed.ncbi.nlm.nih.gov/36577524
Autor:
Sang-Yoon Shin, Camila Simoes, Lucía Spangenberg, Alejandra Tapié, Gabriel González, Víctor Raggio, Margarita Halty, Gonzalo Greif, Hugo Naya, Changhoon Kim, Jong-Yeon Shin, Nicolás Dell’Oca, Virgina Gonzalez, Estefania Garrone, Martín Graña, María Laura Rovella, Conrado Medici, Jeong-Sun Seo, Gonzalo Costa, Soledad Rodríguez
Publikováno v:
Human Genomics
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
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 quality of li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c632bb971b3d35bf844d71d6c764c97
https://doi.org/10.1186/s40246-021-00328-1
https://doi.org/10.1186/s40246-021-00328-1
Autor:
Ana Catarina, Alves, Rodrigo, Alonso, José Luís, Diaz-Diaz, Ana Margarida, Medeiros, Cinthia E, Jannes, Alonso, Merchan, Norma A, Vasques-Cardenas, Ada, Cuevas, Ana Paula, Chacra, Jose E, Krieger, Raquel, Arroyo, Francisco, Arrieta, Laura, Schreier, Pablo, Corral, Virginia G, Bañares, Maria B, Araujo, Paula, Bustos, Sylvia, Asenjo, Mario, Stoll, Nicolás, Dell'Oca, Maria, Reyes, Andrés, Ressia, Rafael, Campo, Maria T, Magaña-Torres, Roopa, Metha, Carlos A, Aguilar-Salinas, José J, Ceballos-Macias, Álvaro J Ruiz, Morales, Pedro, Mata, Mafalda, Bourbon, Raul D, Santos
Objective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f32075e46edd419e51219395956fd94d
https://hdl.handle.net/10400.18/7220
https://hdl.handle.net/10400.18/7220
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2137
The chronic infection with the liver fluke of the genus Fasciola spp. is the most prevalent foodborne trematodiasis, affecting at least one-fourth of the world livestock grazing in areas where the parasite is present. Moreover, fascioliasis is consid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd9092015b0a59e9313eb17bddec6af3
https://pubmed.ncbi.nlm.nih.gov/32399922
https://pubmed.ncbi.nlm.nih.gov/32399922
Publikováno v:
Methods in Molecular Biology ISBN: 9781071604748
The chronic infection with the liver fluke of the genus Fasciola spp. is the most prevalent foodborne trematodiasis, affecting at least one-fourth of the world livestock grazing in areas where the parasite is present. Moreover, fascioliasis is consid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bc447a4cdc25a76558b6451cb10f9ba
https://doi.org/10.1007/978-1-0716-0475-5_6
https://doi.org/10.1007/978-1-0716-0475-5_6
Autor:
Mario Stoll, Nicolás Dell’Oca
Publikováno v:
Revista Uruguaya de Cardiología, Volume: 34, Issue: 3, Pages: 239-259, Published: 01 DEC 2019
Resumen: La hipercolesterolemia familiar (HF) es un trastorno hereditario caracterizado por niveles séricos anormalmente altos de colesterol desde el nacimiento. Por este motivo, los pacientes con HF presentan un riesgo muy alto de sufrir eventos ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9fb16f91c41a12c4ff6632a483bba1
https://doi.org/10.29277/cardio.34.3.21
https://doi.org/10.29277/cardio.34.3.21
Publikováno v:
International Journal for Parasitology. 45:901-913
The liver fluke Fasciola hepatica is a foodborne zoonotic parasite affecting livestock worldwide, with increasing relevance in human health. The first developmental stage that the host meets after ingestion of the parasite is the newly excysted juven
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2cea082a148e083e0f689e2392cbc0
https://doi.org/10.1016/j.ijpara.2015.06.007
https://doi.org/10.1016/j.ijpara.2015.06.007
Publikováno v:
Atherosclerosis Supplements. 32:53-54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0cd4afa62f43ac2600083f1b5158000
https://doi.org/10.1016/j.atherosclerosissup.2018.04.161
https://doi.org/10.1016/j.atherosclerosissup.2018.04.161
Autor:
Lakshmi Kammili, Young Jun Choi, Kymberlie Hallsworth-Pepin, Paul J. Brindley, Pablo Smircich, Patricia S. Latham, Peter Fischer, Makedonka Mitreva, Victoria H. Mann, José F. Tort, Carlos Carmona, Gabriel Rinaldi, Kerstin Fischer, Samantha N. McNulty, Bruce A. Rosa, Fernanda Dominguez, Santiago Fontenla, Nicolás Dell’Oca, Rahul Tyagi
Publikováno v:
COLIBRI
Universidad de la República
instacron:Universidad de la República
PLoS Genetics
PLoS Genetics, Vol 13, Iss 1, p e1006537 (2017)
Universidad de la República
instacron:Universidad de la República
PLoS Genetics
PLoS Genetics, Vol 13, Iss 1, p e1006537 (2017)
Food borne trematodes (FBTs) are an assemblage of platyhelminth parasites transmitted through the food chain, four of which are recognized as neglected tropical diseases (NTDs). Fascioliasis stands out among the other NTDs due to its broad and signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182e346851f2c73e7e2001c0118d0023
https://doi.org/10.1371/journal.pgen.1006537
https://doi.org/10.1371/journal.pgen.1006537