| Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ... Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010 | 219 | 2010 |
| Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy GP De Nanclares, E Fernández-Rebollo, I Santin, B García-Cuartero, ... The Journal of Clinical Endocrinology & Metabolism 92 (6), 2370-2373, 2007 | 167 | 2007 |
| The lncRNA HOTAIR impacts on mesenchymal stem cells via triple helix formation M Kalwa, S Hänzelmann, S Otto, CC Kuo, J Franzen, S Joussen, ... Nucleic acids research 44 (22), 10631-10643, 2016 | 160 | 2016 |
| LincRNA H19 protects from dietary obesity by constraining expression of monoallelic genes in brown fat E Schmidt, I Dhaouadi, I Gaziano, M Oliverio, P Klemm, M Awazawa, ... Nature communications 9 (1), 3622, 2018 | 121 | 2018 |
| Human Platelet Lysate versus Fetal Calf Serum: These Supplements Do Not Select for Different Mesenchymal Stromal Cells E Fernandez-Rebollo, B Mentrup, R Ebert, J Franzen, G Abagnale, ... Scientific reports 7 (1), 5132, 2017 | 84 | 2017 |
| New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism E Fernández-Rebollo, B Lecumberri, I Garin, J Arroyo, A Bernal-Chico Eur J Endocrinol 163, 953-962, 2010 | 82 | 2010 |
| Senescence-associated metabolomic phenotype in primary and iPSC-derived mesenchymal stromal cells E Fernandez-Rebollo, J Franzen, R Goetzke, J Hollmann, A Ostrowska, ... Stem cell reports 14 (2), 201-209, 2020 | 70 | 2020 |
| Effects of senolytic drugs on human mesenchymal stromal cells C Grezella, E Fernandez-Rebollo, J Franzen, MS Ventura Ferreira, ... Stem cell research & therapy 9, 1-6, 2018 | 70 | 2018 |
| Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption S Turan, E Fernandez‐Rebollo, C Aydin, T Zoto, M Reyes, G Bounoutas, ... Journal of Bone and Mineral Research 29 (3), 749-760, 2014 | 69 | 2014 |
| Endocrine profile and phenotype-(epi) genotype correlation in Spanish patients with pseudohypoparathyroidism E Fernández-Rebollo, B Lecumberri, S Gaztambide, L Martinez-Indart, ... The Journal of Clinical Endocrinology & Metabolism 98 (5), E996-E1006, 2013 | 58 | 2013 |
| Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus C Zazo, S Thiele, C Martín, E Fernandez‐Rebollo, L Martinez‐Indart, ... Journal of Bone and Mineral Research 26 (8), 1864-1870, 2011 | 56 | 2011 |
| Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus G Perez-Nanclares, V Romanelli, S Mayo, I Garin, C Zazo, ... The Journal of Clinical Endocrinology & Metabolism 97 (6), E1060-E1067, 2012 | 46 | 2012 |
| Effects of sex steroids on the pattern of methylation and expression of the promoter region of estrogen and androgen receptors in people with gender dysphoria under cross-sex … G Aranda, E Fernández-Rebollo, M Pradas-Juni, FA Hanzu, SG Kalko, ... The Journal of steroid biochemistry and molecular biology 172, 20-28, 2017 | 43 | 2017 |
| Exclusion of the GNAS locus in PHP‐Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP‐Ib? E Fernández‐Rebollo, G Pérez de Nanclares, B Lecumberri, S Turan, ... Journal of Bone and Mineral Research 26 (8), 1854-1863, 2011 | 43 | 2011 |
| Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects B Lecumberri, E Fernandez-Rebollo, L Sentchordi, P Saavedra, ... Journal of medical genetics 47 (4), 276-280, 2010 | 43 | 2010 |
| Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for … E Fernandez-Rebollo, B García-Cuartero, I Garin, C Largo, F Martínez, ... The Journal of Clinical Endocrinology & Metabolism 95 (2), 765-771, 2010 | 42 | 2010 |
| DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift J Franzen, T Georgomanolis, A Selich, CC Kuo, R Stöger, L Brant, ... Communications biology 4 (1), 598, 2021 | 40 | 2021 |
| Primary osteoporosis is not reflected by disease‐specific DNA methylation or accelerated epigenetic age in blood E Fernandez‐Rebollo, M Eipel, L Seefried, P Hoffmann, K Strathmann, ... Journal of Bone and Mineral Research 33 (2), 356-361, 2018 | 39 | 2018 |
| Differential Methylation of TCF7L2 Promoter in Peripheral Blood DNA in Newly Diagnosed, Drug-Naïve Patients with Type 2 Diabetes S Canivell, EG Ruano, A Siso-Almirall, B Kostov, L Gonzalez-de Paz, ... PLoS One 9 (6), e99310, 2014 | 39 | 2014 |
| Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients I Garin, I Rica, I Estalella, M Oyarzabal, M Rodríguez‐Rigual, JIS Pedro, ... Clinical Endocrinology 68 (6), 873-878, 2008 | 38 | 2008 |
