SAT-462 AIP Mutation-Positive Patients with Somatotropinomas End up Taller and Requiring Radiotherapy More Often Compared to AIP Mutation-Negative Patients: Data from 784 Familial...

por Marques, Pedro, Caimari, Francisca, Hernández-Ramírez, Laura, Collier, David, Grossman, Ashley, Korbonits, Márta
Publicado 2019

Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland

por Hernández-Ramírez, Laura C., Morgan, Rhodri M.L., Barry, Sayka, D’Acquisto, Fulvio, Prodromou, Chrisostomos, Korbonits, Márta
Publicado 2018

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

por Morgan, Rhodri M. L., Hernández-Ramírez, Laura C., Trivellin, Giampaolo, Zhou, Lihong, Roe, S. Mark, Korbonits, Márta, Prodromou, Chrisostomos
Publicado 2012

Ectopic acromegaly due to a GH-secreting pituitary adenoma in the sphenoid sinus: a case report and review of the literature

por Ramírez, Claudia, Hernández-Ramirez, Laura-Cristina, Espinosa-de-los-Monteros, Ana-Laura, Franco, Juan Manuel, Guinto, Gerardo, Mercado, Moises
Publicado 2013

Risk category system to identify pituitary adenoma patients with AIP mutations

por Caimari, Francisca, Hernández-Ramírez, Laura Cristina, Dang, Mary N, Gabrovska, Plamena, Iacovazzo, Donato, Stals, Karen, Ellard, Sian, Korbonits, Márta
Publicado 2018

OR24-6 Non-syndromic Cushing's Disease Due To CDKN1B Mutations: Novel Mutations And Phenotypic Features In A Large Pediatric Cohort

por Hernández-Ramírez, Laura, Chasseloup, Fanny, Faucz, Fabio, Lodish, Maya, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise, Mills, James, Stratakis, Constantine
Publicado 2019

OR06-01 The Role of Germline Defects in Cushing’s Disease

por Hernández-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Chittiboina, Prashant, Denise, Kay M, Mills, James L, Stratakis, Constantine A
Publicado 2020

RF01 | PMON167 Isolated Cushing's Disease Associated With Rare Germline SDHx Variants

por Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernãndez-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R
Publicado 2022

Potential Role for the RASD1 Glucocorticoid-Responsive Gene in Corticotroph Tumorigenesis

por Hernández-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Hu, Mingming, Faucz, Fabio R, Chittiboina, Prashant, Denise, Kay M, Mills, James L, Stratakis, Constantine A
Publicado 2021

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations

por Hernández-Ramírez, Laura C., Martucci, Federico, Morgan, Rhodri M. L., Trivellin, Giampaolo, Tilley, Daniel, Ramos-Guajardo, Nancy, Iacovazzo, Donato, D'Acquisto, Fulvio, Prodromou, Chrisostomos, Korbonits, Márta
Publicado 2016

SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model

por Gutierrez Maria, Andrea, Hernandez-Ramirez, Laura, Trivellin, Giampaolo, Chasseloup, Fanny, Dionysiou, Margarita, Vasques, Gabriela, Feldman, Benjamin, Tsai-Morris, Chon-Hwa, Faucz, Fabio, Jorge, Alexander, Stratakis, Constantine
Publicado 2019

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

por Marques, Pedro, Caimari, Francisca, Hernández-Ramírez, Laura C, Collier, David, Iacovazzo, Donato, Ronaldson, Amy, Magid, Kesson, Lim, Chung Thong, Stals, Karen, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta
Publicado 2020

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

por Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta
Publicado 2015

Corticotropinoma as a Component of Carney Complex

por Hernández-Ramírez, Laura C., Tatsi, Christina, Lodish, Maya B., Faucz, Fabio R., Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Valdés, Nuria, Dimopoulos, Aggeliki, Mills, James L., Stratakis, Constantine A.
Publicado 2017

OR2802 A Novel CABLES1 Missense Variant Associated With Cushing's Disease Disrupts Protein Structure And Stability

por Franco-Álvarez, Alexa L, Morán, Mariana Torres, Rebollar-Vega, Rosa G, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernández-Ramírez, Laura C
Publicado 2023

PMON183 Impact of Small Negative Allosteric Modulators (NAM) of the Follicle-stimulating Hormone (FSH) Receptor on the Dynamics of the Transcriptome in Rat Granulosa Cells Exposed...

por Hernãndez-Ramírez, Laura, Espinal-Enriquez, Jesús, Anda-Jãuregui, Guillermo D, Hernãndez-Montes, Georgina, Zariñãn, Teresa, Gutierrez-Sagal, Rubén, Rebollar-Vega, Rosa G, Bousfield, George R, Butnev, Viktor Y, Dias, James A, Hernãndez-Lemus, Enrique, Ulloa-Aguirre, Alfredo
Publicado 2022

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

por Faucz, Fabio R., Tirosh, Amit, Tatsi, Christina, Berthon, Annabel, Hernández-Ramírez, Laura C., Settas, Nikolaos, Angelousi, Anna, Correa, Ricardo, Papadakis, Georgios Z., Chittiboina, Prashant, Quezado, Martha, Pankratz, Nathan, Lane, John, Dimopoulos, Aggeliki, Mills, James L., Lodish, Maya, Stratakis, Constantine A.
Publicado 2017

SAT603 A Heterogeneous Genetic Background Underlies Familial And Young-onset Pituitary Tumors

por Zuarth-Vazquez, Julia M, Rebollar-Vega, Rosa G, Ramírez-Rentería, Claudia, Hernández-Núñez, Wellbert E, Torres-Morán, Mariana, Franco-Álvarez, Alexa L, Eseiza-Acevedo, Jocelyn, Aguilar-Soto, Mercedes, Cuevas-Ramos, Daniel, Sosa-Eroza, Ernesto, Mercado, Moises, Gamboa-Dominguez, Armando, Hernández-Ramírez, Laura C
Publicado 2023

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

por Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, Stratakis, Constantine A
Publicado 2017