Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers LC Hernández-Ramírez, P Gabrovska, J Dénes, K Stals, G Trivellin, ... The Journal of Clinical Endocrinology & Metabolism 100 (9), E1242-E1254, 2015 | 190 | 2015 |
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study D Iacovazzo, R Caswell, B Bunce, S Jose, B Yuan, ... Acta neuropathologica communications 4, 1-12, 2016 | 135 | 2016 |
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease FR Faucz, A Tirosh, C Tatsi, A Berthon, LC Hernández-Ramírez, N Settas, ... The Journal of Clinical Endocrinology & Metabolism 102 (8), 2836-2843, 2017 | 109 | 2017 |
Genetics of pituitary adenomas MR Gadelha, G Trivellin, LC Hernandez Ramirez, M Korbonits Front Horm Res 41 (41), 111-40, 2013 | 93 | 2013 |
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition RML Morgan, LC Hernández-Ramírez, G Trivellin, L Zhou, SM Roe, ... PloS one 7 (12), e53339, 2012 | 87 | 2012 |
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease LC Hernández-Ramírez, R Gam, N Valdés, MB Lodish, N Pankratz, ... Endocrine-related cancer 24 (8), 379-392, 2017 | 86 | 2017 |
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations LC Hernández-Ramírez, F Martucci, RML Morgan, G Trivellin, D Tilley, ... The Journal of Clinical Endocrinology & Metabolism 101 (8), 3144-3154, 2016 | 68 | 2016 |
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors P Marques, F Caimari, LC Hernández-Ramírez, D Collier, D Iacovazzo, ... The Journal of Clinical Endocrinology & Metabolism 105 (6), e2247-e2260, 2020 | 66 | 2020 |
Corticotropinoma as a component of Carney complex LC Hernández-Ramírez, C Tatsi, MB Lodish, FR Faucz, N Pankratz, ... Journal of the Endocrine Society 1 (7), 918-925, 2017 | 66 | 2017 |
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome M Cohen, R Persky, R Stegemann, LC Hernández-Ramírez, D Zeltser, ... The Journal of Clinical Endocrinology & Metabolism 104 (10), 4676-4682, 2019 | 63 | 2019 |
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype F Chasseloup, N Pankratz, J Lane, FR Faucz, MF Keil, P Chittiboina, ... The Journal of Clinical Endocrinology & Metabolism 105 (6), 1983-2005, 2020 | 49 | 2020 |
Genetics of Cushing’s syndrome LC Hernández-Ramírez, CA Stratakis Endocrinology and Metabolism Clinics 47 (2), 275-297, 2018 | 48 | 2018 |
Risk category system to identify pituitary adenoma patients with AIP mutations F Caimari, LC Hernández-Ramírez, MN Dang, P Gabrovska, D Iacovazzo, ... Journal of medical genetics 55 (4), 254-260, 2018 | 48 | 2018 |
Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland LC Hernández-Ramírez, RML Morgan, S Barry, F D’Acquisto, ... Oncotarget 9 (10), 9177, 2018 | 46 | 2018 |
Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland S Radian, Y Diekmann, P Gabrovska, B Holland, L Bradley, H Wallace, ... Human Mutation 38 (1), 78-85, 2017 | 41 | 2017 |
Cyclic 3′, 5′-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease LC Hernández-Ramírez, G Trivellin, CA Stratakis Molecular and Cellular Endocrinology 463, 72-86, 2018 | 39 | 2018 |
Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening D Iacovazzo, LC Hernandez-Ramirez, M Korbonits Expert review of endocrinology & metabolism 12 (2), 143-153, 2017 | 37 | 2017 |
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience C Ramírez-Rentería, LC Hernández-Ramírez, L Portocarrero-Ortiz, ... Endocrine 53, 402-411, 2016 | 35 | 2016 |
An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations G Trivellin, LC Hernández-Ramírez, J Swan, CA Stratakis Best Practice & Research Clinical Endocrinology & Metabolism 32 (2), 125-140, 2018 | 33 | 2018 |
Large genomic aberrations in corticotropinomas are associated with greater aggressiveness C Tatsi, N Pankratz, J Lane, FR Faucz, LC Hernández-Ramírez, M Keil, ... The Journal of Clinical Endocrinology & Metabolism 104 (5), 1792-1801, 2019 | 30 | 2019 |