Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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
Published in Acta neuropathologica communications (01.06.2016)
Published in Acta neuropathologica communications (01.06.2016)
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Journal Article
Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas
Bizzi, Mariana Ferreira, Pinheiro, Sergio Veloso Brant, Bolger, Graeme B., Schweizer, Junia Ribeiro de Oliveira Longo, Giannetti, Alexandre V., Dang, Mary N., Ribeiro-Oliveira, Antonio, Korbonits, Márta
Published in Molecular and cellular endocrinology (15.11.2018)
Published in Molecular and cellular endocrinology (15.11.2018)
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Journal Article
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family
Evanson, Jane, Kumar, Ajith V., Grieve, Joan, Korbonits, Márta, Dang, Mary N., Powell, Michael D., Goadsby, Peter J., Storr, Helen L., Ogilvie, Arla, Ronaldson, Amy, Barry, Sayka, Marques, Pedro, Chahal, Harvinder S.
Published in International journal of endocrinology (01.01.2018)
Published in International journal of endocrinology (01.01.2018)
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Journal Article
The Role of Epigenetics in Type 1 Diabetes
Jerram, Samuel T., Dang, Mary N., Leslie, R. David
Published in Current diabetes reports (01.10.2017)
Published in Current diabetes reports (01.10.2017)
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Journal Article
Diagnostic challenges and management of a patient with acromegaly due to ectopic growth hormone-releasing hormone secretion from a bronchial carcinoid tumour
Kyriakakis, Nikolaos, Trouillas, Jacqueline, Dang, Mary N, Lynch, Julie, Belchetz, Paul, Korbonits, Márta, Murray, Robert D
Published in Endocrinology, diabetes & metabolism case reports (01.01.2017)
Published in Endocrinology, diabetes & metabolism case reports (01.01.2017)
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Journal Article
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
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
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2018)
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Journal Article
Risk category system to identify pituitary adenoma patients with AIP mutations
Caimari, Francisca, Hernández-Ramírez, Laura Cristina, Dang, Mary N, Gabrovska, Plamena, Iacovazzo, Donato, Stals, Karen, Ellard, Sian, Korbonits, Márta
Published in Journal of medical genetics (01.04.2018)
Published in Journal of medical genetics (01.04.2018)
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Journal Article
Pituitary Carcinoma in a Patient with an SDHB Mutation
Tufton, Nicola, Roncaroli, Federico, Hadjidemetriou, Irene, Dang, Mary N, Dénes, Judit, Guasti, Leonardo, Thom, Maria, Powell, Michael, Baldeweg, Stephanie E, Fersht, Naomi, Korbonits, Márta
Published in Endocrine pathology (01.12.2017)
Published in Endocrine pathology (01.12.2017)
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Journal Article
Cantú syndrome with coexisting familial pituitary adenoma
Marques, Pedro, Spencer, Rupert, Morrison, Patrick J., Carr, Ian M., Dang, Mary N., Bonthron, David T., Hunter, Steven, Korbonits, Márta
Published in Endocrine (01.03.2018)
Published in Endocrine (01.03.2018)
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Journal Article
Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution
Dahlqvist, Per, Spencer, Rupert, Marques, Pedro, Dang, Mary N, Glad, Camilla A M, Johannsson, Gudmundur, Korbonits, Márta
Published in Journal of the Endocrine Society (01.08.2017)
Published in Journal of the Endocrine Society (01.08.2017)
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Journal Article