2018
Tomás de Mayo, Annemarie Ziegler, Sebastián Morales and Lilian Jara. Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications. Int. J. Mol. Sci. 2018, 19, 321; doi:10.3390/ijms19010321
2017
Wolfram Demaerel,1 Matthew S. Hestand,1 Elfi Vergaelen,1 Ann Swillen,1 Marcos Lopez-Sanchez,2,3,4 Luis A. Perez-Jurado,2,3,4 Donna M. McDonald-McGinn,5,6 Elaine Zackai,5,6 Beverly S. Emanuel,5,6 Bernice E. Morrow,7 Jeroen Breckpot,1 Koenraad Devriendt,1 Joris R. Vermeesch,1,*and International 22q11.2 Brain and Behavior Consortium Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements al., Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements The American Journal of Human Genetics (2017), http://dx.doi.org/10.1016/j.ajhg.2017.09.002
Rebecca Graumann , Gabriella A. Di Capua , Juan E. Oyarzún , Marcos A. Vásquez , Christine Liao, Jorge A. Brañes, Iván Roa, Paola Casanello , Alejandro H. Corvalan , Gareth I. Owen, Iris Delgado , Uwe Zangemeister-Wittke , Annemarie Ziegler Expression of teneurins is associated with tumor differentiation and patient survival in ovarian cancer PLoS ONE 12(5): e0177244. https://doi. org/10.1371/journal.pone.0177244
Guo T, Repetto GM, McDonald-McGinn D, Chung J….Morrow BE, on behalf of the International 22q11.2 Consortium/Brain and Behavior Consortium. Genome-wide association study to find modifiers for tetralogy of Fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3. Circulation: Cardiovascular Genetics (2017). DOI:10.1161/CIRCGENETICS.116.001690
Butcher NJ, Marras C, Pondal M, Rusjan P, Boot E, Christopher L, Repetto GM, Fritsch R, Chow EWC, Maselli M, Strafella AP, Lang AE, Bassett AS. Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease. Brain (2017) Mar 24. doi: 10.1093/brain/awx053.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017 Jul 28:appiajp201716121417. doi: 10.1176/appi.ajp.2017.16121417. PMID: 28750581 (NOTA, el Am J Psych no permite subir este paper a bases de datos publicas)
Gruning BA, Rasche E, Rebolledo-Jaramillo B, Eberhard C, Houwaart T, Chilton J, Coraor N, Backofen R, Taylor J, Nekrutenko Anton. (2017). Jupyter and Galaxy: Easing entry barriers into complex data analyses for biomedical researchers. PLoS Computational Biology. 13(5):e1005425.
Johnston HR, Chopra P, Wingo TS Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. PEMapper and PECaller provide a simplified approach to whole-genome sequencing. Proc Natl Acad Sci U S A. 2017 Feb 21. pii: 201618065. doi: 10.1073/pnas.1618065114.
Gur RE, Bassett AS, DM McDonald-McGinn, CE Bearden, E Chow, BS Emanuel, M Owen, A Swillen, M Van den Bree, J Vermeesch, JAS Vorstman, S Warren, T Lehner, B Morrow and The International 22q11.2 Deletion Syndrome Brain Behavior Consortium. A neurogenetic model for the study of schizophrenia spectrum disorders: The International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Molecular Psychiatry (2017) Aug 1. doi: 10.1038/mp.2017.161
Margarit S (2017).¿Qué es el asesoramiento genético y cómo realizarlo en oncología; Rev. Med. Clin Condes 28(4) 524-530
Repetto G “Raras pero no invisibles”: ¿Por qué son importantes las enfermedades poco frecuentes y qué podemos hacer al respecto? Rev Chil Enferm Respir 2017; 33: 9-11
2016
Francisco Alliende, Cecilia Vial, Karena Espinoza, Daniela Schnettler, Victoria Romero, Isabel Miquel, Maria Eugenia Arancibia, Gloria Rios, Lorena Rodriguez, Soledad Quesada, Gabriela M. Repetto. Genetic testing for the diagnosis of lactose malabsorption in children: comparison of LCT genotyping versus breath testing. Journal of Pediatric Gastroenterology and Nutrition (2016)
Freddy Asenjo , Alejandro Olmos , Patricia Henríquez-Piskulich , Victor Polanco , Patricia Aldea, Juan A. Ugalde, Annette N. Trombert AN. Genome sequencing and analysis of the first complete genome of Lactobacillus kunkeei strain MP2, an Apis mellifera gut isolate Peer Journal (2016)
Diego Ossandón, Mario Zanolli, Juan Pablo López, Felipe Benavides, Verónica Pérez, Gabriela M. Repetto. Molecular diagnosis of RB1 gene in patients with retinoblastoma: report of a case series. Archivos de la Sociedad Española de Oftalmología (2016).
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, A Cardon, B Gnidovec Stražišar, J Lloyd Holder Jr, G Lesca, MM Mancardi, AL Poulat, GM Repetto,… PM Campeau, SM Sisodiya TBC1D24 genotype-phenotype correlation: epilepsies and other neurological features Neurology (aceptado 2016).
2015
Berlin A, Fernández M. Avances en el tratamiento de cáncer de próstata resistente a la castración: énfasis en nuevas terapias hormonales. Rev Médica Chile. 2015; 143(2):223-236.
Benavides F, Grossman N, Poggi H, Nieto E, Bertrán A, Araos D, Vásquez M, Ibarra I, Cáceres F, Espinoza K, Lagos M, Repetto GM. Efecto de las variantes en los genes VKORC1 Y CYP2C9 sobre la dosis de anticoagulantes orales en individuos chilenos. Rev Med Chile 2015;143 (11)
Busnadiego O, del Blanco D, Gonzalez-Santamaría J, Habashi J, Calderón JF, Sandoval P, Bedja D, Guinea-Viniegra J, Lopez-Cabrera M, Rosell-Garcia T, Snabel JM, Hanemaaijer R, Forteza A, Dietz HC, Egea G, Rodríguez-Pascual F. Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome. Journal of Molecular and Cellular Cardiology. 2015. In press.
Cecilia Vial, Constanza Martinez-Valdebenito, Susana Rios, Jessica Martinez, Pablo A. Vial, Marcela Ferres, Juan C.Rivera, Ruth Perez, Francisca Valdivieso, Molecular method for the detection of Andes hantavirus infection: validation for clinical diagnostics, DMID (aceptado)
Eyheramendy S, Martinez FI, Manevy F, Vial C, Repetto GM. Genetic structure characterization of Chileans reflects historical immigration patterns. Nature Communications 6, Article number: 6472 doi:10.1038/ncomms7472
Fung LAF, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EWC, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, A Shugar Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn D, Bassett AS. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015 Jan 8. Doi:10.1038/gim.2014.175doi:10.1038/gim.2014.175
Lay-Son G, Espinoza K, Vial C, Rivera JC , Guzmán ML, Repetto G. Chromosomal microarrays testing in children withdevelopmental disabilities and congenital anomalies. J Pediatr (Rio J). 2015; 91(2): 189–195.
Lay-Son G, León L. Perspectivas actuales sobre el diagnóstico genómico en pediatría. Rev Chil Pediatr, 86(1):3-11.
Luis E. León, Sweta Rani, Mauricio Fernandez, Martín Larico, and Sebastián D. Calligaris, “Subclinical Detection of Diabetic Cardiomyopathy with MicroRNAs: Challenges and Perspectives,” Journal of Diabetes Research, Article ID 494092, in press.
Lun W, Fung A, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EWC, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015. DOI: 10.1038/gim.2014.175
Ysunza PA, Pamplona MC, Repetto G. Cleft Palate, Interdisciplinary Diagnosis, and Treatment (editorial) BioMed Research International, 2015 (2015), http://dx.doi.org/10.1155/2015/701850
Ysunza PA, Repetto G, Pamplona MC, Calderon JF, Shaheen K, Chaiyasate K and Rontal M. Current controversies in diagnosis and management of cleft palate and velopharyngeal insufficiency. Biomed Res Int. 2015. DOI: 10.1155/2015/196240
2014
Repetto GM, Guzman ML, Delgado I, Loyola H, Palomares M, Lay-Son G, Vial C, Benavides F, Espinoza K, Alvarez P Case fatality rate and associated factors in 22q11 microdeletion syndrome patients. A retrospective cohort study. BMJ Open Nov 6;4(11):e005041. doi: 10.1136/bmjopen-2014-005041.
Campeau PM, Hennekam RC; DOORS syndrome collaborative group (incluye Repetto GM). DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep;166(3):327-32. doi: 10.1002/ajmg.c.31412
Lay-Son G, Vasquez M, Puga A, Manque P, Repetto G. Secuenciación del gen CFTR en un grupo de pacientes chilenos con Fibrosis Quistica. Rev Chil Pediatr 2014; 85(4):448-54
Elematore I, Gonzalez-Hormazabal P, Reyes JM, Blanco R, Bravo T, Peralta O, Gomez F, Waugh E,Margarit S, Ibañez G, Romero C, Pakomio J, Roizen G, Di Capua GA, Jara L. Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population Mol Biol Rep. 2014 Jun;41(6):3715-22
Campeau PM, Kasperaviciute D, Lu JT, Burrage L, Kim C, Sugimoto M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Hulya Kayserily H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LDV, Begleiter M, de Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M,Blair E, Male A, Giuliano F, Kariminejad A, Tostevin A, Wiszniewska J Cheung SW, Banka S, Hennekam RC, Gibbs R, LeeBH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome sequencing study. Lancet Neurolog. 2014 Jan;13(1):44-58
Retamal MA, Alcayaga J, Verdugo CA, Bultynck G, Leybaert L, Saez PJ, Fernandez R, León LE and Saéz JC. Opening of pannexin- and connexin-based channels increases the excitability of nodose ganglion sensory neurons. Front Cell Neurosci. 2014 Jun 20;8:158
Vial Pablo, Valdivieso Francisca, Calvo Mario, Rioseco Maria Luisa, Riquelme Raúl, Araneda Andres, Tomicic Vinko, Graf Jerónimo, Paredes Laura, Florenzano Matias, Bidart Teresa, Cuiza Analia, Marco Claudia, Hjelle Brian, Ye Chunyan, Hanfelt-Goade Diane, Vial Cecilia, Rivera Juan Carlos, Delgado Iris, Mertz Gregory J. A nonrandomized multicenter trial of human immune plasma for treatment of hantavirus cardiopulmonary syndrome by ANDV. Hantavirus Study Group in Chile, Antiviral Therapy, 2014, doi: 10.3851/IMP2875
Martinez-Valdebenito Constanza, Calvo Mario, Vial Cecilia, Mansilla Rita, Marco Claudia, Palma Eduardo, Vial Pablo, Valdivieso Francisca, Mertz Greg, Ferres Marcela, 2014, Andes hantavirus case-cluster with household and nosocomial transmission in southern Chile, Emerging Infectious Disease, 20 (10): 1629-1636.
2013
Roa I, de Toro G, Sánchez T, Slater J, Ziegler AM, Game A, Arellano L, Schalper K, de Aretxabala X. Quality of DNA from archival pathological samples of gallbladder cancer. Rev Med Chile. 2013 Dic; 141: 1528-1533
Cerciello F, Choi M, Nicastri A, Bausch-Fluck D, Ziegler A, Vitek O, Felley-Bosco E, Stahel R, Aebersold R, Wollscheid B. Identification of a seven glycopeptide signature for malignant pleural mesothelioma in human serum by selected reaction monitoring. Clinical Proteomics. 2013 Nov 8;10(1):1
Fernández MI, Gong Y, Ye Y, Lin J, Kamat AM, Wu X. Gamma – H2AX level in peripheral blood lymphocytes as a risk predictor for bladder cancer. Carcinogenesis. 2013 Nov;34(11):2543-7.
Margarit SB, Alvarado M, Alvarez K, Lay-Son G. Medical Genetics and Genetic Counseling in Chile.J Genet Couns.2013 Jun 7.
Ordonez J, Margarit S, Downs K, Yashar BM. Peering into a Chilean Black Box: Parental Storytelling in Pediatric Genetic Counseling. J Genet Couns.2013 Jun 29.
2012
Cruces P, Diaz F, Puga A, Erranz B, Donoso A, Carvajal C, Wilhelm J, Repetto GM. Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS. Intensive Care Med. 2012 Jan;38(1):113-9.
Valenzuela FJ, Perez-Sepulveda A, Torres MJ, Repetto GM, Illanes S. Pathogenesis of preeclampsia: the genetic component.J Pregnancy. 2012;2012:632-732.
Justiniano JA, Guzmán ML, Astete CP, Aravena T, Arriaza M, Aracena M, Repetto MG. Alta prevalencia de hernias abdominales en pacientes con Síndrome Velocardiofacial.Rev ChilPediatr 2012;83(1):42-47.
Cabello-Verrugio, C., Santander, C., Cofré, C., Acuña, MJ.,Melo, F., Brandan, E. The Internal Region Leucine-rich Repeat 6 of Decorin Interacts with Low Density Lipoprotein Receptor-related Protein-1, Modulates Transforming Growth Factor (TGF)--dependent Signaling, and Inhibits TGF--dependent Fibrotic Response in Skeletal Muscles. Journal of BiologicalChemistry 2012;287: 6773-6787.
Shamseldin H; Al-Shammari M; Alsheddi T; Salih M; Alkhaldi H; Kentab A; Repetto GM; Hashem M; Alkuraya F. Genomic Analysis of Mitochondrial Diseases in a Consanguineous Population Reveals Novel Disease Genes.J Med Genet. 2012 Apr;49(4):234-41.
López G, Puga A, Pittaluga E, Bustamante L, Godoy G, Repetto G. Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes chilenos con sordera congénita identificados mediante screening neonatal.RevChilPediatr 2012:83(2):154-160
Vásquez M, Lay-Son G, Vial F, Boza ML, Contreras I, Lozano J, Zenteno D; Repetto MG. Expandiendo el espectro mutacional en pacientes chilenos con fibrosis quística. Rev. Chil. Enferm. Respir. 2012;28(2):99-103.
Gonzalez-Hormazabal P, Reyes JM, Blanco R, Bravo T, Carrera I, Peralta O, Gomez F, Waugh E, Margarit S, Ibañez G, Santos JL, Jara L. The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.MolBiol Rep. 2012 Aug;39(8):8091-8.
Catalan JA, Rodriguez F, Yubero MJ, Palisson F, Gana MJ, Kramer S, Repetto GM.De Novo COL7A1 Mutation in a Patient with Trisomy 21: Coexistence of Dystrophic EpidermolysisBullosa and Down Syndrome.Int J Dermatol. 2012 Sep;51(9):1078-81.
Rollan A, Vial C, Quesada S, Espinoza K, Hatton M, Puga A, Repetto G. [Comparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance]. Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético.Rev Med Chil. 2012 Sep;140(9):1101-8.
Guzman ML, Delgado I, Lay-Son G, Willans E, Puga A, Repetto GM. Growth in Chilean Infants with Chromosome 22q11 Microdeletion Syndrome. Am J Med Genet A. 2012 Nov;158A(11):2682-6.
Lay-Son G, Palomares P, Guzman ML, Puga A, Vasquez M, Repetto GM. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.Int J PediatrOtorhinolaryngol. 2012 Dec;76(12):1726-8.
Ziegler A,Corvalán A, Roa I, Brañes JA, Wollscheid B. Teneurin protein family: an emerging role in human tumorigenesis and drug resistance.Cancer Lett. 2012 Dec 29;326(1):1-7.
2011
Lay-Son G, Puga A, Astudillo P, Repetto GM; Collaborative Group of the Chilean National Cystic Fibrosis Program.Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.J Cyst Fibros. 2011 Jan;10(1):66-70
Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O’Driscoll M, Bober M, O’Rahilly S, Jackson AP, Semple RK; MajewskiOsteodysplastic Primordial Dwarfism Study Group. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes. 2011 Mar;60(3):925-35
Cabello-Verrugio C, Morales MG, Vio CP, Cabrera D, Brandan E. Angiotensin II Receptor Type 1 Blockade Decreases CTGF/CCN2-mediated Damage and Fibrosis in Normal and Dystrophic Skeletal Muscle. J Cell Mol Med. 2012 Apr;16(4):752-64.
Cabello-Verrugio C, Acuña MJ, Morales MG, Becerra A, Simon F, Brandan E. Fibrotic response induced by Angiotensin II requires NAD(P)H oxidase- induced Reactive Oxygen Species (ROS) in skeletal muscle cells.BiochemBiophys Res Commun. 2011 Jul 8;410(3):665-70.
Morales MG, Cabello-Verrugio C, Santander C, Cabrera D, Goldschmeding R, BrandanE. CTGF/CCN-2 Overexpression can directly induce features of skeletal muscle dystrophy.J Pathol. 2011 Dec;225(4):490-501.
2010
Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.Breast Cancer Res Treat.2010 Sep 22 [Epub ahead of print].www.springerlink.com/index/TT4K148230424106.pdf
Jara L, Dubois K, Gaete D, de Mayo T, Ratkevicius N, Bravo T, Margarit S, Blanco R, Gómez F, Waugh E, Peralta O, Reyes JM, Ibáñez G, González-Hormazábal P. Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population.Breast Cancer Res Treat. 2010 Aug;122(3):813-22. Epub 2010 Jan 7
Lay-Son G,Repetto G. Genética y fibrosis quística: Desde el gen CFTR a los factores modificadores.NeumolPediatr 2010; 5:4-9
