Elisabet Ars
Elisabet Ars
Molecular Biology Laboratory at Fundació Puigvert, Barcelona
Correu electrònic verificat a fundacio-puigvert.es
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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
4282000
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
2672000
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
2411997
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
2172011
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
1752003
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
1472009
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
1212010
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
1131996
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
982009
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
942007
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
912017
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
882011
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
861998
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
852001
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
802012
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
772014
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
742010
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
732014
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
722001
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
702015
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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