Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ... Genetics in Medicine 22 (1), 15-25, 2020 | 498 | 2020 |
Increase in decorin and biglycan in Duchenne Muscular Dystrophy: role of fibroblasts as cell source of these proteoglycans in the disease R Fadic, V Mezzano, K Alvarez, D Cabrera, J Holmgren, E Brandan Journal of cellular and molecular medicine 10 (3), 758-769, 2006 | 117 | 2006 |
The relationship between chemokines CCL2, CCL3, and CCL4 with the tumor microenvironment and tumor-associated macrophage markers in colorectal cancer M De la Fuente López, G Landskron, D Parada, K Dubois-Camacho, ... Tumor Biology 40 (11), 1010428318810059, 2018 | 111 | 2018 |
Immune system, microbiota, and microbial metabolites: the unresolved triad in colorectal cancer microenvironment M Hanus, D Parada-Venegas, G Landskron, AM Wielandt, C Hurtado, ... Frontiers in immunology 12, 612826, 2021 | 92 | 2021 |
PIASγ represses the transcriptional activation induced by the nuclear receptor Nurr1 D Galleguillos, A Vecchiola, JA Fuentealba, V Ojeda, K Alvarez, A Gómez, ... Journal of Biological Chemistry 279 (3), 2005-2011, 2004 | 91 | 2004 |
Augmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophy K Alvarez, R Fadic, E Brandan Journal of cellular biochemistry 85 (4), 703-713, 2002 | 71 | 2002 |
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study AK Win, JG Dowty, JC Reece, G Lee, AS Templeton, JP Plazzer, ... The Lancet Oncology 22 (7), 1014-1022, 2021 | 64 | 2021 |
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review C Castiglioni, D Verrigni, C Okuma, A Diaz, K Alvarez, T Rizza, ... European Journal of Paediatric Neurology 19 (5), 497-503, 2015 | 60 | 2015 |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America BM Rossi, EI Palmero, F López-Kostner, C Sarroca, CA Vaccaro, ... Bmc Cancer 17, 1-26, 2017 | 41 | 2017 |
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report M Dominguez-Valentin, EJ Crosbie, C Engel, S Aretz, F Macrae, I Winship, ... Genetics in Medicine 23 (4), 705-712, 2021 | 34 | 2021 |
Detection using molecular biology techniques of Mycoplasma hominis and Ureaplasma urealyticum in urogenital samples C Fernandez, K Alvarez, L Muy, M Martinez Revista Argentina De Microbiologia 30 (2), 53-58, 1998 | 32 | 1998 |
Mutation spectrum in South American Lynch syndrome families M Dominguez-Valentin, M Nilbert, P Wernhoff, F López-Köstner, ... Hereditary cancer in clinical practice 11, 1-9, 2013 | 29 | 2013 |
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America CA Vaccaro, F López‐Kostner, DV Adriana, EI Palmero, BM Rossi, ... International journal of cancer 145 (2), 318-326, 2019 | 26 | 2019 |
Medical genetics and genetic counseling in Chile SB Margarit, M Alvarado, K Alvarez, G Lay-Son Journal of Genetic Counseling 22, 869-874, 2013 | 22 | 2013 |
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity C Castiglioni, E Bertini, P Orellana, C Villarroel, F Las Heras, D Hinzpeter, ... American Journal of Medical Genetics Part A 164 (9), 2365-2369, 2014 | 20 | 2014 |
Mutational Screening of the APC Gene in Chilean Families with Familial Adenomatous Polyposis: Nine Novel Truncating Mutations MK De la Fuente, KP Alvarez, AJ Letelier, F Bellolio, ML Acuña, FS León, ... Diseases of the Colon & Rectum 50, 2142-2148, 2007 | 20 | 2007 |
A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries A Della Valle, BM Rossi, EI Palmero, M Antelo, CA Vaccaro, ... European Journal of Cancer 119, 112-121, 2019 | 19 | 2019 |
Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome K Alvarez, C Hurtado, MA Hevia, AM Wielandt, M De La Fuente, J Church, ... Diseases of the colon & rectum 53 (4), 450-459, 2010 | 19 | 2010 |
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile K Alvarez, B Suarez, MA Palomino, C Hervias, G Calcagno, ... Arquivos de Neuro-Psiquiatria 77, 470-477, 2019 | 18 | 2019 |
Muscle magnetic resonance imaging and histopathology in ACTA1‐related congenital nemaline myopathy C Castiglioni, D Cassandrini, F Fattori, E Bellacchio, A D'Amico, K Alvarez, ... Muscle & nerve 50 (6), 1011-1016, 2014 | 16 | 2014 |