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Items: 15

1.

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.

J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10.

2.

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, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16.

3.

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 AM, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq AL, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG, Korbonits M.

Eur J Endocrinol. 2017 Sep;177(3):257-266. doi: 10.1530/EJE-17-0293. Epub 2017 Jun 20.

4.

Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.

Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M.

Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4.

5.

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, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M.

Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.

6.

AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.

Ramírez-Rentería C, Hernández-Ramírez LC, Portocarrero-Ortiz L, Vargas G, Melgar V, Espinosa E, Espinosa-de-Los-Monteros AL, Sosa E, González B, Zúñiga S, Unterländer M, Burger J, Stals K, Bussell AM, Ellard S, Dang M, Iacovazzo D, Kapur S, Gabrovska P, Radian S, Roncaroli F, Korbonits M, Mercado M.

Endocrine. 2016 Aug;53(2):402-11. doi: 10.1007/s12020-016-0930-9. Epub 2016 Mar 31.

PMID:
27033541
7.

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

Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium.

J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54.

8.

An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene.

Dinesen PT, Dal J, Gabrovska P, Gaustadnes M, Gravholt CH, Stals K, Denes J, Asa SL, Korbonits M, Jørgensen JO.

Endocrinol Diabetes Metab Case Rep. 2015;2015:140105. doi: 10.1530/EDM-14-0105. Epub 2015 Jan 1.

9.

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M.

J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.

10.

A genetic variant located in miR-423 is associated with reduced breast cancer risk.

Smith RA, Jedlinski DJ, Gabrovska PN, Weinstein SR, Haupt L, Griffiths LR.

Cancer Genomics Proteomics. 2012 May-Jun;9(3):115-8.

PMID:
22593246
11.

Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population.

Gabrovska PN, Smith RA, Haupt LM, Griffiths LR.

Twin Res Hum Genet. 2011 Dec;14(6):562-7.

PMID:
22506312
12.

Single nucleotide polymorphism in hsa-mir-196a-2 and breast cancer risk: a case control study.

Jedlinski DJ, Gabrovska PN, Weinstein SR, Smith RA, Griffiths LR.

Twin Res Hum Genet. 2011 Oct;14(5):417-21. doi: 10.1375/twin.14.5.417.

PMID:
21962133
13.

Semaphorin-plexin signalling genes associated with human breast tumourigenesis.

Gabrovska PN, Smith RA, Tiang T, Weinstein SR, Haupt LM, Griffiths LR.

Gene. 2011 Dec 10;489(2):63-9. doi: 10.1016/j.gene.2011.08.024. Epub 2011 Sep 2.

PMID:
21925246
14.

Development of an eight gene expression profile implicating human breast tumours of all grade.

Gabrovska PN, Smith RA, Tiang T, Weinstein SR, Haupt LM, Griffiths LR.

Mol Biol Rep. 2012 Apr;39(4):3879-92. doi: 10.1007/s11033-011-1167-6. Epub 2011 Jul 16.

PMID:
21766182
15.

Investigation of the 1758G>C and 2880A>G variants within the NCOA3 gene in a breast cancer affected Australian population.

Gabrovska PN, Smith RA, O'Leary G, Haupt LM, Griffiths LR.

Gene. 2011 Aug 15;482(1-2):68-72. doi: 10.1016/j.gene.2011.05.001. Epub 2011 May 13.

PMID:
21601620

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