Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Gabriela M Repetto"'
Autor:
María I Rivera-Hechem, Carlos Rodríguez-Sickert, Ricardo A Guzmán, Tadeo Ramírez-Parada, Felipe Benavides, Víctor Landaeta-Torres, Mauricio Aspé-Sánchez, Gabriela M Repetto
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0244189 (2020)
The effort to understand the genetic basis of human sociality has been encouraged by the diversity and heritability of social traits like cooperation. This task has remained elusive largely because most studies of sociality and genetics use sample si
Externí odkaz:
https://doaj.org/article/4f4893bcd4624987b04f6681d4fe88c8
Autor:
Hugo Ossandon, Nicolás Armijo, Constanza Vargas, Gabriela M. Repetto, Manuel Antonio Espinoza
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Aim To review the available evidence about the strategies implemented or proposed for coverage or reimbursement for currently approved gene therapies. Methods A scoping review was conducted to analyze the evidence published during the years
Externí odkaz:
https://doaj.org/article/b92279e6c534418aac271ab7c3b1d3ee
Autor:
JUAN FRANCISCO CALDERÓN, ALONSO R PUGA, M. LUISA GUZMÁN, CARMEN PAZ ASTETE, MARTA ARRIAZA, MARIANA ARACENA, TERESA ARAVENA, PATRICIA SANZ, GABRIELA M REPETTO
Publikováno v:
Biological Research, Vol 42, Iss 4, Pp 461-468 (2009)
Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a signif
Externí odkaz:
https://doaj.org/article/1434e2b2f32b43bb996772f9d9dc75ef
Publikováno v:
Biological Research, Vol 40, Iss 2, Pp 223-229 (2007)
Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populat
Externí odkaz:
https://doaj.org/article/74d236259d6243fda2508b366d661a68
Autor:
Florencia Brito, Catalina Lagos, Jessica Cubillos, Joan Orellana, Mallen Gajardo, Daniela Böhme, Gonzalo Encina, Gabriela M. Repetto
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagnosis of RTT is based on clinical features and, dep
Externí odkaz:
https://doaj.org/article/cef374829c294630821a6c5e04ec6889
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss suppl 1 (2024)
Abstract Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing advancements in the field of human genetics pose challenges to the relatively slow adapt
Externí odkaz:
https://doaj.org/article/42a9b73ada16485381f030a336f550ca
Autor:
Gabriela M. Repetto, Barbara Iruretagoyena, Cristian Tejos, Analía Cuiza, Luz Maria Alliende, Carlos Mena, Rosemarie Fritsch, Claudia Ornstein, Matthijs G. Bossong, Juan Pablo Cruz, Juan P. Ramirez-Mahaluf, Nicolas Crossley, Ángeles Tepper, Teuntje A.D. Pelgrim
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Scientific Reports
The 22q11 deletion syndrome is a genetic disorder associated with a high risk of developing psychosis, and is therefore considered a neurodevelopmental model for studying the pathogenesis of schizophrenia. Studies have shown that localized abnormal f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1986007c5f7ac3f1c811a1b4b8c47b7
https://doaj.org/article/8c526dd3417f4b0a91e7dc296ded1035
https://doaj.org/article/8c526dd3417f4b0a91e7dc296ded1035
Autor:
Yanireth Jimenez, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-son, Gabriela M. Repetto, Marcelo Rojas, Juan F. Calderon
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 1027
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c747f409cda99687415e015001411f7
Autor:
Erik Boot, Sólveig Óskarsdóttir, Joanne C.Y. Loo, Terrence Blaine Crowley, Ani Orchanian-Cheff, Danielle M. Andrade, Jill M. Arganbright, René M. Castelein, Christine Cserti-Gazdewich, Steven de Reuver, Ania M. Fiksinski, Gunilla Klingberg, Anthony E. Lang, Maria R. Mascarenhas, Edward M. Moss, Beata Anna Nowakowska, Erwin Oechslin, Lisa Palmer, Gabriela M. Repetto, Nikolai Gil D. Reyes, Maude Schneider, Candice Silversides, Kathleen E. Sullivan, Ann Swillen, Therese A.M.J. van Amelsvoort, Jason P. Van Batavia, Claudia Vingerhoets, Donna M. McDonald-McGinn, Anne S. Bassett
Publikováno v:
Genetics in Medicine. 25:100344
This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df340c0d44dff0d267be3565912e6008
https://doi.org/10.1016/j.gim.2022.11.012
https://doi.org/10.1016/j.gim.2022.11.012
Autor:
Carlos Juri, Pedro Chaná-Cuevas, Vasko Kramer, Rosemarie Fritsch, Claudia Ornstein, Analía Cuiza, Carlos Hernández, Katiuska Villanueva, Teresa Cordova, Jorge Mauro, Adrian Ocampo, Boris Rebolledo-Jaramillo, Gonzalo Encina, Andrea Calleja, Javiera Dinator, Juan Pablo Alcayaga, Nicolas A. Crossley, Gabriela M. Repetto
22q11.2 microdeletion syndrome (22qDS) was recently identified as a risk factor for development of early-onset Parkinson’s disease (PD). The classical motor manifestations of this disease are preceded by early signs and symptoms of neurodegeneratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a63b49dab131673eb7b33c7c2d6cb893
https://doi.org/10.1101/2022.05.18.22275282
https://doi.org/10.1101/2022.05.18.22275282
