Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Gabriela M. Repetto"'
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:
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:
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Abstract Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate i
Externí odkaz:
https://doaj.org/article/8c4a618d8f784a9c9f58db40b2e0cf57
Autor:
Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn
Publikováno v:
Genes, Vol 14, Iss 1, p 169 (2023)
Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G
Externí odkaz:
https://doaj.org/article/be6fa2ad773b49aba3f6f4db2b2c4a33
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-4 (2020)
Abstract The recent coronavirus disease 2019 (COVID-19) pandemic has caused worldwide disruption which also extends to the arena of scientific meetings around the world. Here, we explore the lessons learned from moving two human genetics and genomics
Externí odkaz:
https://doaj.org/article/a9995e12ab2a401f8a8b666ed9210696
Autor:
Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein, Gabriela M. Repetto
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients and societies, and are a sign
Externí odkaz:
https://doaj.org/article/e7ab376bdb73459e96e0c59f7102987a
Autor:
Juan Undurraga, Ignacio Bórquez-Infante, Nicolás A. Crossley, Miguel L. Prieto, Gabriela M. Repetto
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Use of pharmacogenetics (PGx) testing to guide clinical decisions is growing in developed countries. Published guidelines for gene–drug pair analysis are available for prescriptions in psychiatry, but information on their utilization, barriers, and
Externí odkaz:
https://doaj.org/article/0044f7c8689e4d0db6a328f3bdd798d6
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in
Externí odkaz:
https://doaj.org/article/35300066795f468c8814398858a53a1c
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, Vol 13, Iss 6, p 1027 (2022)
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://doaj.org/article/7dbc1812e87643ef926c5df822784157