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Elisabet Ars
Elisabet Ars
Molecular Biology Laboratory at Fundació Puigvert, Barcelona
Verified email at fundacio-puigvert.es
Title
Cited by
Cited by
Year
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
5002000
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
3112000
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
2851997
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
2842011
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
2312003
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
1932017
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
1842010
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
1762009
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
1582019
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
1522018
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
1312020
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
1311996
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
1292009
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
1172007
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
1102011
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
1072012
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
1062014
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
1042020
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
1032014
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
982016
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