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Items: 1 to 20 of 87

1.

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A.

Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861.

PMID:
21685915
2.

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27.

3.

Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis.

Korpershoek E, Koffy D, Eussen BH, Oudijk L, Papathomas TG, van Nederveen FH, Belt EJ, Franssen GJ, Restuccia DF, Krol NM, van der Luijt RB, Feelders RA, Oldenburg RA, van Ijcken WF, de Klein A, de Herder WW, de Krijger RR, Dinjens WN.

J Clin Endocrinol Metab. 2016 Feb;101(2):453-60. doi: 10.1210/jc.2015-2592. Epub 2015 Dec 15.

PMID:
26670126
4.

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group.

JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223.

PMID:
28384794
5.

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA, Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V, Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A.

J Mol Med (Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun 14.

PMID:
26070438
6.

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
7.

MAX and MYC: a heritable breakup.

Cascón A, Robledo M.

Cancer Res. 2012 Jul 1;72(13):3119-24. doi: 10.1158/0008-5472.CAN-11-3891. Epub 2012 Jun 15. Review.

8.

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
9.

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.

Flynn A, Dwight T, Benn D, Deb S, Colebatch AJ, Fox S, Harris J, Duncan EL, Robinson B, Hogg A, Ellul J, To H, Duong C, Miller JA, Yates C, James P, Trainer A, Gill AJ, Clifton-Bligh R, Hicks RJ, Tothill RW.

J Pathol. 2017 Jul;242(3):273-283. doi: 10.1002/path.4900. Epub 2017 May 13.

PMID:
28369925
10.

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13.

PMID:
24334767
11.

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
12.

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.

Welander J, Andreasson A, Brauckhoff M, Bäckdahl M, Larsson C, Gimm O, Söderkvist P.

Endocr Relat Cancer. 2014 Jun;21(3):495-504. doi: 10.1530/ERC-13-0384. Epub 2014 Apr 16.

13.

Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.

Qin N, de Cubas AA, Garcia-Martin R, Richter S, Peitzsch M, Menschikowski M, Lenders JW, Timmers HJ, Mannelli M, Opocher G, Economopoulou M, Siegert G, Chavakis T, Pacak K, Robledo M, Eisenhofer G.

Int J Cancer. 2014 Nov 1;135(9):2054-64. doi: 10.1002/ijc.28868. Epub 2014 Apr 7.

14.

Novel hereditary forms of pheochromocytomas and paragangliomas.

Dahia PL.

Front Horm Res. 2013;41:79-91. doi: 10.1159/000345671. Epub 2013 Mar 19. Review.

PMID:
23652672
15.

The genomic landscape of phaeochromocytoma.

Flynn A, Benn D, Clifton-Bligh R, Robinson B, Trainer AH, James P, Hogg A, Waldeck K, George J, Li J, Fox SB, Gill AJ, McArthur G, Hicks RJ, Tothill RW.

J Pathol. 2015 May;236(1):78-89. doi: 10.1002/path.4503. Epub 2015 Feb 2.

PMID:
25545346
16.

Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing.

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

J Clin Endocrinol Metab. 2013 Jul;98(7):E1266-71. doi: 10.1210/jc.2012-4257. Epub 2013 May 2.

PMID:
23640968
17.

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER.

Am J Hum Genet. 2001 Jul;69(1):49-54. Epub 2001 Jun 12. Erratum in: Am J Hum Genet 2002 Feb;70(2):565.

18.

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O, Armanios M, Dziema H, Neumann HP, Eng C.

Cancer Res. 2000 Dec 15;60(24):6822-5.

19.

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

Meyer-Rochow GY, Smith JM, Richardson AL, Marsh DJ, Sidhu SB, Robinson BG, Benn DE.

J Surg Res. 2009 Nov;157(1):55-62. doi: 10.1016/j.jss.2008.07.043. Epub 2008 Sep 4.

PMID:
19215943
20.

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL.

JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.

PMID:
21156949

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