Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi, S Martinelli, ... Nature genetics 39 (8), 1007-1012, 2007 | 785 | 2007 |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome M Tartaglia, LA Pennacchio, C Zhao, KK Yadav, V Fodale, A Sarkozy, ... Nature genetics 39 (1), 75-79, 2007 | 654 | 2007 |
Estudio transversal español de crecimiento 2008 A Carrascosa, ÁF Longás, JP López-Siguero, ES González, JMF García Pfizer, 2008 | 452* | 2008 |
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus J Ludvigsson, D Krisky, R Casas, T Battelino, L Castaño, J Greening, ... New England Journal of Medicine 366 (5), 433-442, 2012 | 395 | 2012 |
No effect of the altered peptide ligand NBI-6024 on β-cell residual function and insulin needs in new-onset type 1 diabetes M Walter, A Philotheou, F Bonnici, AG Ziegler, R Jimenez, ... Diabetes care 32 (11), 2036-2040, 2009 | 142 | 2009 |
Epidemiología de la diabetes mellitus tipo 1 en menores de 15 años en España SC Barreiro, MR Rigual, GB Lozano, JPL Siguero, BG Pelegrín, MPR Val, ... Anales de pediatría 81 (3), 189. e1-189. e12, 2014 | 132 | 2014 |
Estudios españoles de crecimiento: situación actual, utilidad y recomendaciones de uso ES González, AC Lezcano, JMF García, AF Longás, DL De Lara, ... Anales de pediatría 74 (3), 193. e1-193. e16, 2011 | 116 | 2011 |
Estudio transversal español de crecimiento 2008. Parte II: valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta A Carrascosa Lezcano, JM Fernández García, C Fernández Ramos, ... An. pediatr.(2003, Ed. impr.), 552-569, 2008 | 102 | 2008 |
The auditory threshold in a school-age population is related to iodine intake and thyroid function F Soriguer, MC Millón, R Munoz, I Mancha, JPL Siguero, MJM Aedo, ... Thyroid 10 (11), 991-999, 2000 | 99 | 2000 |
Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no … M Viemann, M Peter, JP López-Siguero, G Simic-Schleicher, WG Sippell The Journal of Clinical Endocrinology & Metabolism 86 (5), 2056-2059, 2001 | 85 | 2001 |
CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010 | 77 | 2010 |
Improvement in growth after two years of growth hormone therapy in very young children born small for gestational age and without spontaneous catch-up growth: results of a … J Argente, R Gracia, L Ibánez, A Oliver, E Borrajo, A Vela, ... The Journal of Clinical Endocrinology & Metabolism 92 (8), 3095-3101, 2007 | 76 | 2007 |
Prevalencia del síndrome metabólico y sus componentes en niños y adolescentes con obesidad LT Ceballos, JPL Siguero, AJ Ortiz Anales de Pediatría 67 (4), 352-361, 2007 | 65 | 2007 |
Estudios españoles de crecimiento 2008. Nuevos patrones antropométricos A Carrascosa, JM Fernández, C Fernández, A Ferrández, ... Endocrinología y Nutrición 55 (10), 484-506, 2008 | 63 | 2008 |
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway MD Lewis, M Horan, DS Millar, V Newsway, TE Easter, L Fryklund, ... The Journal of Clinical Endocrinology & Metabolism 89 (3), 1068-1075, 2004 | 60 | 2004 |
Spanish growth studies 2008. New anthropometric standards. A Carrascosa, JM Fernandez, C Fernandez, A Ferrandez, ... Endocrinologia y nutricion: organo de la Sociedad Espanola de Endocrinologia …, 2008 | 50 | 2008 |
SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation M Fernández‐Cancio, L Audí, P Andaluz, N Torán, C Piró, M Albisu, ... International journal of andrology 34 (6pt2), e526-e535, 2011 | 45 | 2011 |
Effect of recombinant growth hormone on leptin, adiponectin, resistin, interleukin-6, tumor necrosis factor-α and ghrelin levels in growth hormone-deficient children JP López-Siguero, LF López-Canti, R Espino, E Caro, ... Journal of endocrinological investigation 34, 300-306, 2011 | 45 | 2011 |
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances A Monteagudo-Sánchez, JR Hernandez Mora, C Simon, A Burton, ... Nucleic acids research 48 (20), 11394-11407, 2020 | 43 | 2020 |
Estudio transversal español de crecimiento. Parte II: valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta A Carrascosa Lezcano, JM Fernández García, C Fernández Ramos, ... An Pediatr (Barc) 68, 552-69, 2008 | 41 | 2008 |