| Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ... Nature Reviews Endocrinology 14 (8), 476-500, 2018 | 277 | 2018 |
| 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 | 222 | 2010 |
| Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci T Eggermann, GP de Nanclares, ER Maher, IK Temple, Z Tümer, D Monk, ... Clinical epigenetics 7 (1), 123, 2015 | 196 | 2015 |
| 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 Garcia-Cuartero, ... The Journal of Clinical Endocrinology & Metabolism 92 (6), 2370-2373, 2007 | 169 | 2007 |
| From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network S Thiele, G Mantovani, A Barlier, V Boldrin, P Bordogna, L De Sanctis, ... European journal of endocrinology 175 (6), P1-P17, 2016 | 147 | 2016 |
| GATA4 mutations are a cause of neonatal and childhood-onset diabetes C Shaw-Smith, E De Franco, HL Allen, M Batlle, SE Flanagan, ... Diabetes 63 (8), 2888-2894, 2014 | 139 | 2014 |
| Mutations in GCK and HNF‐1α explain the majority of cases with clinical diagnosis of MODY in Spain I Estalella, I Rica, GP De Nanclares, JR Bilbao, JA Vazquez, JI San Pedro, ... Clinical endocrinology 67 (4), 538-546, 2007 | 135 | 2007 |
| PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance A Linglart, H Fryssira, O Hiort, PM Holterhus, G Perez de Nanclares, ... The Journal of Clinical Endocrinology & Metabolism 97 (12), E2328-E2338, 2012 | 108 | 2012 |
| New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features M Vaxillaire, A Dechaume, K Busiah, H Cavé, S Pereira, R Scharfmann, ... Diabetes 56 (6), 1737-1741, 2007 | 104 | 2007 |
| Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not … CM Moya, G Perez de Nanclares, L Castaño, N Potau, JR Bilbao, ... The Journal of Clinical Endocrinology & Metabolism 91 (5), 1832-1841, 2006 | 90 | 2006 |
| New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism E Fernández-Rebollo, B Lecumberri, I Garin, J Arroyo, A Bernal-Chico, ... European journal of endocrinology 163 (6), 953-962, 2010 | 82 | 2010 |
| Genome‐wide allelic methylation analysis reveals disease‐specific susceptibility to multiple methylation defects in imprinting syndromes F Court, A Martin‐Trujillo, V Romanelli, I Garin, I Iglesias‐Platas, ... Human mutation 34 (4), 595-602, 2013 | 80 | 2013 |
| The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network FM Elli, A Linglart, I Garin, L De Sanctis, P Bordogna, V Grybek, A Pereda, ... The Journal of Clinical Endocrinology & Metabolism 101 (10), 3657-3668, 2016 | 79 | 2016 |
| Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus JIS Pedro, JR Bilbao, G Perez de Nanclares, JC Vitoria, P Martul, ... Autoimmunity 38 (6), 439-444, 2005 | 79 | 2005 |
| Functional analysis of six Kir6. 2 (KCNJ11) mutations causing neonatal diabetes CAJ Girard, K Shimomura, P Proks, N Absalom, L Castano, ... Pflügers Archiv 453 (3), 323-332, 2006 | 76 | 2006 |
| Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus I Santin, GP de Nanclares, B Calvo, A Gaafar, L Castaño, JR Bilbao, ... Human immunology 67 (1-2), 118-124, 2006 | 65 | 2006 |
| Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease JR Bilbao, B Calvo, AM Aransay, A Martin-Pagola, G Perez de Nanclares, ... Genes & Immunity 7 (7), 550-554, 2006 | 59 | 2006 |
| Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, SF Ahmed, ... Hormone research in paediatrics 93 (3), 182-196, 2020 | 58 | 2020 |
| 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 |
Eduardo Fernandez-RebolloDanStem在 sund.ku.dk 的电子邮件经过验证
