Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 E Ars, E Serra, J García, H Kruyer, A Gaona, C Lázaro, X Estivill Human molecular genetics 9 (2), 237-247, 2000 | 433 | 2000 |
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations E Serra, T Rosenbaum, U Winner, R Aledo, E Ars, X Estivill, HG Lenard, ... Human molecular genetics 9 (20), 3055-3064, 2000 | 271 | 2000 |
Confirmation of a double-hit model for the NF1Gene in benign neurofibromas E Serra, S Puig, D Otero, A Gaona, H Kruyer, E Ars, X Estivill, C Lázaro The American Journal of Human Genetics 61 (3), 512-519, 1997 | 242 | 1997 |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome S Santín, G Bullich, B Tazón-Vega, R García-Maset, I Giménez, I Silva, ... Clinical Journal of the American Society of Nephrology 6 (5), 1139-1148, 2011 | 216 | 2011 |
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella, X Estivill, C Lazaro Journal of medical genetics 40 (6), e82-e82, 2003 | 176 | 2003 |
Nephrin mutations cause childhood-and adult-onset focal segmental glomerulosclerosis S Santín, R García-Maset, P Ruíz, I Giménez, I Zamora, A Pena, A Madrid, ... Kidney international 76 (12), 1268-1276, 2009 | 147 | 2009 |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD M Vujic, CM Heyer, E Ars, K Hopp, A Markoff, C Örndal, B Rudenhed, ... Journal of the American Society of Nephrology 21 (7), 1097-1102, 2010 | 125 | 2010 |
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients C Lázaro, A Gaona, P Ainsworth, R Tenconi, D Vidaud, H Kruyer, E Ars, ... Human genetics 98 (6), 696-699, 1996 | 115 | 1996 |
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 97 | 2017 |
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis S Santín, E Ars, S Rossetti, E Salido, I Silva, R García-Maset, I Giménez, ... Nephrology Dialysis Transplantation 24 (10), 3089-3096, 2009 | 97 | 2009 |
Utility of fluorescence in situ hybridization as a non-invasive technique in the diagnosis of upper urinary tract urothelial carcinoma M Marín-Aguilera, L Mengual, MJ Ribal, M Musquera, E Ars, ... European urology 51 (2), 409-415, 2007 | 95 | 2007 |
Clinical value of NPHS2 analysis in early-and adult-onset steroid-resistant nephrotic syndrome S Santín, B Tazón-Vega, I Silva, MÁ Cobo, I Giménez, P Ruíz, ... Clinical Journal of the American Society of Nephrology 6 (2), 344-354, 2011 | 90 | 2011 |
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene E Ars, H Kruyer, A Gaona, P Casquero, J Rosell, V Volpini, E Serra, ... The American Journal of Human Genetics 62 (4), 834-841, 1998 | 87 | 1998 |
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations E Serra, E Ars, A Ravella, A Sanchez, S Puig, T Rosenbaum, X Estivill, ... Human genetics 108 (5), 416-429, 2001 | 83 | 2001 |
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males C Krausz, C Giachini, DL Giacco, F Daguin, C Chianese, E Ars, ... PloS one 7 (10), e44887, 2012 | 82 | 2012 |
Spanish guidelines for the management of autosomal dominant polycystic kidney disease E Ars, C Bernis, G Fraga, V Martínez, J Martins, A Ortiz, ... Nephrology Dialysis Transplantation 29 (suppl_4), iv95-iv105, 2014 | 78 | 2014 |
Gene expression signature in urine for diagnosing and assessing aggressiveness of bladder urothelial carcinoma L Mengual, M Burset, MJ Ribal, E Ars, M Marín-Aguilera, M Fernández, ... Clinical Cancer Research 16 (9), 2624-2633, 2010 | 74 | 2010 |
HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy G Bullich, J Ballarín, A Oliver, N Ayasreh, I Silva, S Santín, ... Clinical Journal of the American Society of Nephrology 9 (2), 335-343, 2014 | 72 | 2014 |
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas E Serra, T Rosenbaum, M Nadal, U Winner, E Ars, X Estivill, C Lázaro Nature genetics 28 (3), 294-296, 2001 | 72 | 2001 |
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity G Bullich, D Trujillano, S Santín, S Ossowski, S Mendizábal, G Fraga, ... European Journal of Human Genetics 23 (9), 1192-1199, 2015 | 71 | 2015 |