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A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F, Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER. Rattenberry E, et al. Among authors: kumar av. J Clin Endocrinol Metab. 2013 Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10. J Clin Endocrinol Metab. 2013. PMID: 23666964
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. Dénes J, et al. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12. J Clin Endocrinol Metab. 2015. PMID: 25494863 Free PMC article.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER. Jafri M, et al. Among authors: kumar av. Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi: 10.1111/cen.12074. Epub 2013 Apr 6. Clin Endocrinol (Oxf). 2013. PMID: 23072324
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.
Williams F, Hunter S, Bradley L, Chahal HS, Storr HL, Akker SA, Kumar AV, Orme SM, Evanson J, Abid N, Morrison PJ, Korbonits M, Atkinson AB. Williams F, et al. Among authors: kumar av. J Clin Endocrinol Metab. 2014 Apr;99(4):1122-31. doi: 10.1210/jc.2013-2868. Epub 2013 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423289
Large genomic deletions in AIP in pituitary adenoma predisposition.
Georgitsi M, Heliövaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavò S, Gündogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA. Georgitsi M, et al. Among authors: kumar av. J Clin Endocrinol Metab. 2008 Oct;93(10):4146-51. doi: 10.1210/jc.2008-1003. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628514
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. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869. J Clin Endocrinol Metab. 2015. PMID: 26186299 Free PMC article.
A novel DICER1 mutation in familial multinodular goitre.
Caimari F, Kumar AV, Kurzawinski T, Butler G, Sabbaghian N, Foulkes WD, Korbonits M. Caimari F, et al. Among authors: kumar av. Clin Endocrinol (Oxf). 2018 Jul;89(1):110-112. doi: 10.1111/cen.13613. Epub 2018 May 4. Clin Endocrinol (Oxf). 2018. PMID: 29633305 No abstract available.
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.
169 results