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Laura Cristina Hernández Ramírez
Laura Cristina Hernández Ramírez
Verifierad e-postadress på cic.unam.mx
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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
1802015
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
1182016
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
1022017
Genetics of pituitary adenomas
MR Gadelha, G Trivellin, LCH Ramírez, M Korbonits
Endocrine tumor syndromes and their genetics 41, 111-140, 2013
912013
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
812012
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
782017
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
602016
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
582017
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
562019
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
492020
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
422020
Genetics of Cushing’s syndrome
LC Hernández-Ramírez, CA Stratakis
Endocrinology and Metabolism Clinics 47 (2), 275-297, 2018
412018
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
412018
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
382017
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
372018
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
322017
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
312018
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
312016
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
282018
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease
A Makri, MB Bonella, MF Keil, L Hernandez‐Ramirez, G Paluch, A Tirosh, ...
Clinical endocrinology 89 (4), 437-443, 2018
262018
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Artiklar 1–20