Browsing Centre for Endocrinology by Author "Iacovazzo, D"
Now showing items 1-20 of 28
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AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
Ramirez-Renteria, C; Hernandez-Ramirez, LC; Portocarrero-Ortiz, L; Vargas, G; Melgar, V; Espinosa, E; Laura Espinosa-de-los-Monteros, A; Sosa, E; Gonzalez, B; Zuniga, S (2016-08) -
Distinct pathological features of pituitary adenomas in patients with X-linked acrogigantism (XLAG)
Roncaroli, F; Iacovazzo, D; Rodd, C; Gurlek, A; Dutta, P; Ellard, S; Sampson, J; Trouillas, J; Lopes, MB; Korbonits, M (2017-02) -
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) -
Factors predicting pasireotide responsiveness in somatotroph pituitary adenomas resistant to first-generation somatostatin analogues: an immunohistochemical study
Iacovazzo, D; Carlsen, E; Lugli, F; Chiloiro, S; Piacentini, S; Bianchi, A; Giampietro, A; Mormando, M; Clear, AJ; Doglietto, F (2016-02) -
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
Pepe, S; Korbonits, M; Iacovazzo, D (Bioscientifica, 2019-02-01)While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ... -
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) -
GHRH secretion from a pancreatic neuroendocrine tumor causing gigantism in a patient with MEN1.
Srirangam Nadhamuni, V; Iacovazzo, D; Evanson, J; Sahdev, A; Trouillas, J; McAndrew, L; R Kurzawinski, T; Bryant, D; Hussain, K; Bhattacharya, S (2021-06-01)Summary: A male patient with a germline mutation in MEN1 presented at the age of 18 with classical features of gigantism. Previously, he had undergone resection of an insulin-secreting pancreatic neuroendocrine tumour ... -
Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes
Yang, ZJ; Lillina, VM; Collier, D; Thong, LC; Iacovazzo, D; Awad, S; Korbonits, M (2018-11-02) -
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism
Salvatori, R; Radian, S; Diekmann, Y; Iacovazzo, D; David, A; Gabrovska, P; Grassi, G; Bussell, A-M; Stals, K; Weber, A (2017-09) -
Insulinomatosis: new aspects.
Christ, E; Iacovazzo, D; Korbonits, M; Perren, A (2023-06-01)Endogenous hyperinsulinemic hypoglycemia (EHH) is a rare condition with an incidence of approximately 4-6 per million person-years and comprises a group of disorders causing hyperinsulinemic hypoglycemia without exogenous ... -
Invasive ACTH-Producing Pituitary Gland Neoplasm Secondary to MSH2 Mutation
Loughrey, PB; Baker, G; Herron, B; Cooke, S; Iacovazzo, D; Lindsay; Korbonits, M (Elsevier, 2021-04-04) -
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 -
Novel Germline p.Gly42Val MEN1 Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline.
Koehler, VF; Jungheim, K; Groß, U; Iacovazzo, D; Mann, A; Korbonits, M (2017-09)We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic ... -
A novel variant in the androgen receptor gene causing familial mild androgen insensitivity syndrome
Iacovazzo, D; Kumar, A; Abbs, S; Solomon, A; Korbonits, M; Druce, M (2017-10-20) -
Pasireotide: successful treatment of a sparsely granulated tumour in a resistant case of acromegaly.
Amarawardena, WKMG; Liyanarachchi, KD; Newell-Price, JDC; Ross, RJM; Iacovazzo, D; Debono, M (2017)The granulation pattern of somatotroph adenomas is well known to be associated with differing clinical and biochemical characteristics, and it has been shown that sparsely granulated tumours respond poorly to commonly used ... -
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) -
PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex
Kiefer, FW; Winhofer, Y; Iacovazzo, D; Korbonits, M; Wolfsberger, S; Knosp, E; Trautinger, F; Hoeftberger, R; Krebs, M; Luger, A (2017-08) -
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 ... -
SDHA mutated paragangliomas may be at high risk of metastasis
Tufton, N; Ghelani, R; Srirangalingam, U; Kumar, AV; Drake, WM; Iacovazzo, D; Skordilis, K; Berney, D; Al-Mrayat, M; Khoo, B (2017-07)