Elisabet Ars
Elisabet Ars
Molecular Biology Laboratory at Fundació Puigvert, Barcelona
Verified email at
Cited by
Cited by
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
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
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
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
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
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
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
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
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
J Savige, F Ariani, F Mari, M Bruttini, A Renieri, O Gross, C Deltas, ...
Pediatric Nephrology 34, 1175-1189, 2019
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
G Bullich, A Domingo-Gallego, I Vargas, P Ruiz, L Lorente-Grandoso, ...
Kidney international 94 (2), 363-371, 2018
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
J Xie, L Liu, N Mladkova, Y Li, H Ren, W Wang, Z Cui, L Lin, X Hu, X Yu, ...
Nature communications 11 (1), 1600, 2020
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, 696-699, 1996
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
Utility of fluorescence in situ hybridization as a non-invasive technique in the diagnosis of upper urinary tract urothelial carcinoma
M Marin-Aguilera, L Mengual, MJ Ribal, M Musquera, E Ars, ...
European urology 51 (2), 409-415, 2007
Clinical value of NPHS2 analysis in early-and adult-onset steroid-resistant nephrotic syndrome
S Santín, B Tazón-Vega, I Silva, MA Cobo, I Giménez, P Ruíz, ...
Clinical Journal of the American Society of Nephrology 6 (2), 344-354, 2011
High resolution X chromosome-specific array-CGH detects new CNVs in infertile males
C Krausz, C Giachini, D Lo Giacco, F Daguin, C Chianese, E Ars, ...
Public Library of Science 7 (10), e44887, 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
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
C Krausz, A Riera-Escamilla, D Moreno-Mendoza, K Holleman, F Cioppi, ...
Genetics in Medicine 22 (12), 1956-1966, 2020
NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
K Bouchireb, O Boyer, O Gribouval, F Nevo, E Huynh‐Cong, V Moriničre, ...
Human mutation 35 (2), 178-186, 2014
X-linked and autosomal recessive Alport syndrome: pathogenic variant features and further genotype-phenotype correlations
J Savige, H Storey, H Il Cheong, H Gyung Kang, E Park, P Hilbert, ...
PLoS One 11 (9), e0161802, 2016
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