Search Results - "REPETTO, GABRIELA M"

Challenges for gene therapy in the financial sustainability of health systems: a scoping review by Ossandon, Hugo, Armijo, Nicolás, Vargas, Constanza, Repetto, Gabriela M, Espinoza, Manuel Antonio

“…To review the available evidence about the strategies implemented or proposed for coverage or reimbursement for currently approved gene therapies. A scoping…”
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Discovery of novel genetic syndromes in Latin America: Opportunities and challenges by Faundes, Víctor, Repetto, Gabriela M, Valdivia, Leonardo E

“…Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing…”
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes by Shamseldin, Hanan E, Alshammari, Muneera, Al-Sheddi, Tarfa, Salih, Mustafa A, Alkhalidi, Hisham, Kentab, Amal, Repetto, Gabriela M, Hashem, Mais, Alkuraya, Fowzan S

“…To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy…”
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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis by Rozas, M Fernanda, Benavides, Felipe, León, Luis, Repetto, Gabriela M

“…Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of…”
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Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis by Brito, Florencia, Lagos, Catalina, Cubillos, Jessica, Orellana, Joan, Gajardo, Mallen, Böhme, Daniela, Encina, Gonzalo, Repetto, Gabriela M

“…Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants…”
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Rare diseases in Chile: challenges and recommendations in universal health coverage context by Encina, Gonzalo, Castillo-Laborde, Carla, Lecaros, Juan A, Dubois-Camacho, Karen, Calderón, Juan F, Aguilera, Ximena, Klein, Andrés D, Repetto, Gabriela M

“…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…”
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No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies by Rivera-Hechem, María I, Rodríguez-Sickert, Carlos, Guzmán, Ricardo A, Ramírez-Parada, Tadeo, Benavides, Felipe, Landaeta-Torres, Víctor, Aspé-Sánchez, Mauricio, Repetto, Gabriela M

“…The effort to understand the genetic basis of human sociality has been encouraged by the diversity and heritability of social traits like cooperation. This…”
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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients by León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.

“…22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a…”
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Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners by Undurraga, Juan, Bórquez-Infante, Ignacio, Crossley, Nicolás A, Prieto, Miguel L, Repetto, Gabriela M

“…Use of pharmacogenetics (PGx) testing to guide clinical decisions is growing in developed countries. Published guidelines for gene-drug pair analysis are…”
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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations by D'Angelo, Carla S, Hermes, Azure, McMaster, Christopher R, Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H, Repetto, Gabriela M, Mengchun, Gong, Malherbe, Helen, Reichardt, Juergen K V, Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Thomas, Yarlalu, Baynam, Gareth

“…Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are…”
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Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020 by Forrest, Alistair R R, Repetto, Gabriela M, Reichardt, Juergen K V

“…The recent coronavirus disease 2019 (COVID-19) pandemic has caused worldwide disruption which also extends to the arena of scientific meetings around the…”
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Pathogenesis of Preeclampsia: The Genetic Component by Valenzuela, Francisco J., Pérez-Sepúlveda, Alejandra, Torres, María J., Correa, Paula, Repetto, Gabriela M., E. Illanes, Sebastian

“…Preeclampsia (PE) is one of the main causes of maternal and fetal morbidity and mortality in the world, causing nearly 40% of births delivered before 35 weeks…”
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Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial by Timpel, Patrick, Cesena, Fernando Henpin Yue, da Silva Costa, Christiane, Soldatelli, Matheus Dorigatti, Gois, Emanuel, Castrillon, Eduardo, Díaz, Lina Johana Jaime, Repetto, Gabriela M., Hagos, Fanah, Castillo Yermenos, Raul E., Pacheco-Barrios, Kevin, Musallam, Wafaa, Braid, Zilda, Khidir, Nesreen, Romo Guardado, Marcela, Roepke, Roberta Muriel Longo

“…Background: Overweight and obesity are significant public health concerns that are prevalent in younger age cohorts. Preventive or therapeutic interventions…”
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Genetic structure characterization of Chileans reflects historical immigration patterns by Eyheramendy, Susana, Martinez, Felipe I., Manevy, Federico, Vial, Cecilia, Repetto, Gabriela M.

“…Identifying the ancestral components of genomes of admixed individuals helps uncovering the genetic basis of diseases and understanding the demographic history…”
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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies by Lay-Son, Guillermo, Espinoza, Karena, Vial, Cecilia, Rivera, Juan C., Guzmán, María L., Repetto, Gabriela M.

“…Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray…”
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The WHO genomics program of work for equitable implementation of human genomics for global health by Ambrosino, Elena, Abou Tayoun, Ahmad N., Abramowicz, Marc, Zilfalil, Bin Alwi, Boughtwood, Tiffany, Hamdi, Yosr, Hubbard, Tim, Kato, Kazuto, Lopes-Cendes, Iscia, Majumder, Partha Pratim, Mascalzoni, Deborah, Ndiaye, Rokhaya, Ramsay, Michèle, Repetto, Gabriela M., Shotelersuk, Vorasuk, Taylor, Sherry, Reeder, John C., Ross, Anna Laura

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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function by Alpaslan, Murat, Fastré, Elodie, Mestre, Sandrine, van Haeringen, Arie, Repetto, Gabriela M, Keymolen, Kathelijn, Boon, Laurence M, Belva, Florence, Giacalone, Guido, Revencu, Nicole, Sznajer, Yves, Riches, Katie, Keeley, Vaughan, Mansour, Sahar, Gordon, Kristiana, Martin-Almedina, Silvia, Dobbins, Sara, Ostergaard, Pia, Quere, Isabelle, Brouillard, Pascal, Vikkula, Miikka

“…Developmental and functional defects in the lymphatic system are responsible for primary lymphoedema (PL). PL is a chronic debilitating disease caused by…”
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Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study by Mauro, Jorge, Diaz, Mario, Córdova, Teresa, Villanueva, Katiuska, Cáceres, Tania, Bassi, Alejandro, Fritsch, Rosemarie, Repetto, Gabriela M, Ocampo-Garcés, Adrián

“…Abstract Study Objectives Our aim is to evaluate the presence of REM sleep without atonia (RWA), the objective hallmark of REM sleep Behaviour Disorder (RBD),…”
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Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior by Gokhale, Avanti, Hartwig, Cortnie, Freeman, Amanda A H, Bassell, Julia L, Zlatic, Stephanie A, Sapp Savas, Christie, Vadlamudi, Trishna, Abudulai, Farida, Pham, Tyler T, Crocker, Amanda, Werner, Erica, Wen, Zhexing, Repetto, Gabriela M, Gogos, Joseph A, Claypool, Steven M, Forsyth, Jennifer K, Bearden, Carrie E, Glausier, Jill, Lewis, David A, Seyfried, Nicholas T, Kwong, Jennifer Q, Faundez, Victor

“…Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy…”
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Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease by Butcher, Nancy J, Marras, Connie, Pondal, Margarita, Rusjan, Pablo, Boot, Erik, Christopher, Leigh, Repetto, Gabriela M, Fritsch, Rosemarie, Chow, Eva W C, Masellis, Mario, Strafella, Antonio P, Lang, Anthony E, Bassett, Anne S

“…The recurrent 22q11.2 deletion is a genetic risk factor for early-onset Parkinson's disease. Adults with the associated 22q11.2 deletion syndrome (22q11.2DS)…”
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