Browsing Centre for Endocrinology by Author "Dang, MN"
Now showing items 1-11 of 11
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Cantú syndrome with coexisting familial pituitary adenoma.
Marques, P; Spencer, R; Morrison, PJ; Carr, IM; Dang, MN; Bonthron, DT; Hunter, S; Korbonits, M (2018-03)CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations ... -
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.
Marques, P; Barry, S; Ronaldson, A; Ogilvie, A; Storr, HL; Goadsby, PJ; Powell, M; Dang, MN; Chahal, HS; Evanson, J (2018)Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15-30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, ... -
ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma
Afghan, WK; Iacovazzo, D; Alevizaki, M; Foulkes, W; Lugli, F; Druce, M; Dutta, P; Dang, MN; Gabrovska, P; Morrison, PJ (2016-10-14) -
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
Iacovazzo, D; Caswell, R; Bunce, B; Jose, S; Yuan, B; Hernandez-Ramirez, LC; Kapur, S; Caimari, F; Evanson, J; Ferrau, F (2016-06-01) -
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo, D; Flanagan, SE; Walker, E; Quezado, R; de Sousa Barros, FA; Caswell, R; Johnson, MB; Wakeling, M; Brändle, M; Guo, M (2018-01-30)The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ... -
A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes
Iacovazzo, D; Flanagan, SE; Walker, E; Caswell, R; Brandle, M; Johnson, M; Wakeling, M; Guo, M; Dang, MN; Gabrovska, P -
Pituitary Carcinoma in a Patient with an SDHB Mutation.
Tufton, N; Roncaroli, F; Hadjidemetriou, I; Dang, MN; Dénes, J; Guasti, L; Thom, M; Powell, M; Baldeweg, SE; Fersht, N (2017-12)We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external ... -
Polymorphism or mutation? - The role of the R304Q missense AIP mutation in the predisposition to pituitary adenoma
Mothojakan, NB; Ferrau, F; Dang, MN; Barlier, A; Chanson, P; Occhi, G; Daly, AF; Schofl, C; Dal, J; Gadelha, MR (2016-10-14) -
Pseudoacromegaly: A Differential Diagnostic Problem for Acromegaly With a Genetic Solution.
Dahlqvist, P; Spencer, R; Marques, P; Dang, MN; Glad, CAM; Johannsson, G; Korbonits, M (2017-08-01)Acromegaly is usually not a difficult condition to diagnose once the possibility of this disease has been raised. However, a few conditions present with some aspects of acromegaly or gigantism but without growth hormone ... -
Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas
Bizzi, MF; Pinheiro, SVB; Bolger, GB; Schweizer, JRDOL; Giannetti, AV; Dang, MN; Ribeiro-Oliveira, A; Korbonits, M© 2018 Type 4 phosphodiesterases (PDE4s) of the large PDE enzyme superfamily have unique specificity for cAMP and may, therefore, be relevant for somatotroph tumorigenesis. Somatotroph adenomas typically overexpress PDEs ... -
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari, F; Hernández-Ramírez, LC; Dang, MN; Gabrovska, P; Iacovazzo, D; Stals, K; Ellard, S; Korbonits, M; International FIPA consortium (2018-04)BACKGROUND: Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system ...