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Items: 1 to 20 of 108

1.

Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.

Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1392-6. doi: 10.1210/jc.2013-4536. Epub 2014 Apr 8.

PMID:
24712571
2.

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J, Andreasson A, Juhlin CC, Wiseman RW, Bäckdahl M, Höög A, Larsson C, Gimm O, Söderkvist P.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1352-60. doi: 10.1210/jc.2013-4375. Epub 2014 Apr 2.

PMID:
24694336
3.

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.

4.

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A, Lendvai NK, Butz H, Liko I, Sapi Z, Szucs N, Toth G, Grolmusz VK, Igaz P, Toth M, Rácz K.

Pathol Oncol Res. 2016 Oct;22(4):673-9. doi: 10.1007/s12253-016-0050-0. Epub 2016 Mar 9.

PMID:
26960314
5.

Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix JL, Brunaud L, Finat A, Calender A, Giraud S.

Horm Metab Res. 2012 May;44(5):334-8. doi: 10.1055/s-0032-1306308. Epub 2012 Apr 19.

PMID:
22517554
6.

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

Crona J, Nordling M, Maharjan R, Granberg D, Stålberg P, Hellman P, Björklund P.

PLoS One. 2014 Jan 22;9(1):e86756. doi: 10.1371/journal.pone.0086756. eCollection 2014.

7.

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

Abermil N, Guillaud-Bataille M, Burnichon N, Venisse A, Manivet P, Guignat L, Drui D, Chupin M, Josseaume C, Affres H, Plouin PF, Bertherat J, Jeunemaître X, Gimenez-Roqueplo AP.

J Clin Endocrinol Metab. 2012 May;97(5):E805-9. doi: 10.1210/jc.2011-3360. Epub 2012 Mar 14.

PMID:
22419703
8.

Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes.

Pęczkowska M, Kowalska A, Sygut J, Waligórski D, Malinoc A, Janaszek-Sitkowska H, Prejbisz A, Januszewicz A, Neumann HP.

Clin Endocrinol (Oxf). 2013 Dec;79(6):817-23. doi: 10.1111/cen.12218. Epub 2013 May 3.

PMID:
23551045
9.

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP.

J Clin Oncol. 2005 Dec 1;23(34):8812-8.

PMID:
16314641
10.

Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.

Oishi Y, Nagai S, Yoshida M, Fujisawa S, Sazawa A, Shinohara N, Nonomura K, Matsuno K, Shimizu C.

Endocr J. 2010;57(8):745-50. Epub 2010 May 25.

11.

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL.

Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33. doi: 10.1111/cen.12331. Epub 2013 Oct 25.

PMID:
24102379
12.

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M.

J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3.

PMID:
19258401
13.

A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.

Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP.

Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19. Review.

PMID:
22517557
14.

Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

Zhu WD, Wang ZY, Chai YC, Wang XW, Chen DY, Wu H.

Eur J Med Genet. 2015 Sep;58(9):433-8. doi: 10.1016/j.ejmg.2015.05.008. Epub 2015 Jun 19.

PMID:
26096992
15.

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.

Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G, Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher G; Italian Pheochromocytoma/Paraganglioma Network..

J Clin Endocrinol Metab. 2009 May;94(5):1541-7. doi: 10.1210/jc.2008-2419. Epub 2009 Feb 17.

PMID:
19223516
16.

MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours.

Crona J, Maharjan R, Delgado Verdugo A, Stålberg P, Granberg D, Hellman P, Björklund P.

Fam Cancer. 2014 Mar;13(1):121-5. doi: 10.1007/s10689-013-9666-3.

PMID:
23743562
17.

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.

J Clin Endocrinol Metab. 2013 Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10.

PMID:
23666964
18.

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Pandit R, Khadilkar K, Sarathi V, Kasaliwal R, Goroshi M, Khare S, Nair S, Raghavan V, Dalvi A, Hira P, Fernandes G, Sathe P, Rojekar A, Malhotra G, Bakshi G, Prakash G, Bhansali A, Walia R, Kamalanathan S, Sahoo J, Desai A, Bhagwat N, Mappa P, Rajput R, Chandrashekhar SR, Shivane V, Menon P, Lila A, Bandgar T, Shah N.

Eur J Endocrinol. 2016 Oct;175(4):311-23. doi: 10.1530/EJE-16-0126. Erratum in: Eur J Endocrinol. 2016 Dec;175(6):X3.

PMID:
27539324
19.

Long-term prognosis of patients with pediatric pheochromocytoma.

Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP.

Endocr Relat Cancer. 2013 Dec 16;21(1):17-25. doi: 10.1530/ERC-13-0415. Print 2014 Feb.

20.

Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

Muth A, Abel F, Jansson S, Nilsson O, Ahlman H, Wängberg B.

World J Surg. 2012 Jun;36(6):1389-94. doi: 10.1007/s00268-012-1430-6.

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