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

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

por Imran, Syed Ali, Aldahmani, Khaled A, Penney, Lynette, Croul, Sidney E, Clarke, David B, Collier, David M, Iacovazzo, Donato, Korbonits, Márta
Publicado 2018

GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1

por Srirangam Nadhamuni, Vinaya, Iacovazzo, Donato, Evanson, Jane, Sahdev, Anju, Trouillas, Jacqueline, McAndrew, Lorraine, R Kurzawinski, Tom, Bryant, David, Hussain, Khalid, Bhattacharya, Satya, Korbonits, Márta
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

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

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management

por Rodd, Celia, Millette, Maude, Iacovazzo, Donato, Stiles, Craig E., Barry, Sayka, Evanson, Jane, Albrecht, Steffen, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Trouillas, Jacqueline, Roncaroli, Federico, Sampson, Julian, Ellard, Sian, Korbonits, Márta
Publicado 2016

Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males

por Walker, Emily M., Cha, Jeeyeon, Tong, Xin, Guo, Min, Liu, Jin-Hua, Yu, Sophia, Iacovazzo, Donato, Mauvais-Jarvis, Franck, Flanagan, Sarah E., Korbonits, Márta, Stafford, John, Jacobson, David A., Stein, Roland
Publicado 2021

Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child

por Dutta, Pinaki, Reddy, Kavita S, Rai, Ashutosh, Madugundu, Anil K, Solanki, Hitendra S, Bhansali, Anil, Radotra, Bishan D, Kumar, Narendra, Collier, David, Iacovazzo, Donato, Gupta, Prakamya, Raja, Remya, Gowda, Harsha, Pandey, Akhilesh, Devgun, Jagtar Singh, Korbonits, Márta
Publicado 2019

Tumour-infiltrating cytotoxic T lymphocytes in somatotroph pituitary neuroendocrine tumours

por Iacovazzo, Donato, Chiloiro, Sabrina, Carlsen, Eivind, Bianchi, Antonio, Giampietro, Antonella, Tartaglione, Tommaso, Bima, Chiara, Bracaccia, Maria Elena, Lugli, Francesca, Lauretti, Liverana, Anile, Carmelo, Gessi, Marco, Colosimo, Cesare, Rindi, Guido, Pontecorvi, Alfredo, Korbonits, Márta, De Marinis, Laura
Publicado 2019

In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

por Salvatori, Roberto, Radian, Serban, Diekmann, Yoan, Iacovazzo, Donato, David, Alessia, Gabrovska, Plamena, Grassi, Giorgia, Bussell, Anna-Marie, Stals, Karen, Weber, Astrid, Quinton, Richard, Crowne, Elizabeth C, Corazzini, Valentina, Metherell, Lou, Kearney, Tara, Du Plessis, Daniel, Sinha, Ajay Kumar, Baborie, Atik, Lecoq, Anne-Lise, Chanson, Philippe, Ansorge, Olaf, Ellard, Sian, Trainer, Peter J, Balding, David, Thomas, Mark G, Korbonits, Márta
Publicado 2017

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

por Iacovazzo, Donato, Flanagan, Sarah E., Walker, Emily, Quezado, Rosana, de Sousa Barros, Fernando Antonio, Caswell, Richard, Johnson, Matthew B., Wakeling, Matthew, Brändle, Michael, Guo, Min, Dang, Mary N., Gabrovska, Plamena, Niederle, Bruno, Christ, Emanuel, Jenni, Stefan, Sipos, Bence, Nieser, Maike, Frilling, Andrea, Dhatariya, Ketan, Chanson, Philippe, de Herder, Wouter W., Konukiewitz, Björn, Klöppel, Günter, Stein, Roland, Korbonits, Márta, Ellard, Sian
Publicado 2018

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

por Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publicado 2016