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 | 191 | 2017 |
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 | 175 | 2009 |
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 | 148 | 2018 |
SARS-CoV-2 infection in Spanish children with chronic kidney pathologies M Melgosa, A Madrid, O Alvárez, J Lumbreras, F Nieto, E Parada, ... Pediatric Nephrology 35, 1521-1524, 2020 | 91 | 2020 |
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 | 88 | 2015 |
Long-term eculizumab improves clinical outcomes in atypical hemolytic uremic syndrome R Vilalta, E Lara, A Madrid, S Chocron, M Muñoz, A Casquero, J Nieto Pediatric Nephrology 27, 2323-2326, 2012 | 75 | 2012 |
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis F Claverie-Martín, V García-Nieto, C Loris, G Ariceta, I Nadal, L Espinosa, ... PLoS One 8 (1), e53151, 2013 | 66 | 2013 |
Mesangial C4d deposits in early IgA nephropathy A Segarra, K Romero, I Agraz, N Ramos, A Madrid, C Carnicer, E Jatem, ... Clinical Journal of the American Society of Nephrology 13 (2), 258-264, 2018 | 60 | 2018 |
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing J Gómez, H Gil-Peña, F Santos, E Coto, A Arango, O Hernandez, ... Pediatric research 79 (3), 496-501, 2016 | 43 | 2016 |
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome A García Castaño, G Pérez de Nanclares, L Madariaga, M Aguirre, ... PLoS One 12 (3), e0173581, 2017 | 35 | 2017 |
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study A García Castaño, G Pérez de Nanclares, L Madariaga, M Aguirre, ... European Journal of Pediatrics 174, 1373-1385, 2015 | 28 | 2015 |
Vascular thrombosis in pediatric kidney transplantation: graft survival is possible with adequate management R Gander, M Asensio, GF Royo, JA Molino, L García, A Madrid, G Ariceta, ... Journal of Pediatric Urology 14 (3), 222-230, 2018 | 23 | 2018 |
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm A García Castaño, G Pérez de Nanclares, L Madariaga, M Aguirre, ... PLoS One 8 (9), e74673, 2013 | 23 | 2013 |
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis JL Hellin, JJ Bech-Serra, EL Moctezuma, S Chocron, S Santin, A Madrid, ... American journal of kidney diseases 54 (5), 871-880, 2009 | 23 | 2009 |
Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study AG Castaño, GP De Nanclares, L Madariaga, M Aguirre, S Chocron, ... European Journal of Pediatrics 174 (10), 1373, 2015 | 21 | 2015 |
Activation of the acute inflammatory phase response in idiopathic nephrotic syndrome: association with clinicopathological phenotypes and with response to corticosteroids N Roca, C Martinez, E Jatem, A Madrid, M Lopez, A Segarra Clinical kidney journal 14 (4), 1207-1215, 2021 | 15 | 2021 |
Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome I Gomez Delgado, F Corvillo, P Nozal, E Arjona, A Madrid, M Melgosa, ... Frontiers in immunology 12, 641656, 2021 | 13 | 2021 |
Intracranial hypertension in cystinosis is a challenge: experience in a children’s hospital N Martín-Begué, S Alarcón, C Wolley-Dod, LE Lara, Á Madrid, P Cano, ... JIMD Reports, Volume 35, 17-22, 2017 | 13 | 2017 |
Dent’s disease: identification of seven new pathogenic mutations in the CLCN5 gene E Ramos-Trujillo, F Claverie-Martin, V Garcia-Nieto, G Ariceta, J Vara, ... Journal of pediatric genetics 2 (03), 133-140, 2013 | 13 | 2013 |
Single-cycle rituximab-induced immunologic changes in children: Enhanced in neuroimmunologic disease? A Deyà-Martínez, Y Gordón, C Molina-Anguita, A Vlagea, M Piquer, ... Neurology: Neuroimmunology & Neuroinflammation 7 (4), e724, 2020 | 12 | 2020 |