-
1
-
-
84860834761
-
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes
-
Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res. 2012;44:328-333.
-
(2012)
Horm Metab Res.
, vol.44
, pp. 328-333
-
-
Gimenez-Roqueplo, A.P.1
Dahia, P.L.2
Robledo, M.3
-
2
-
-
18744373593
-
Disruption of oxygen homeostasis underlies congenital chuvash polycythemia
-
Ang SO, Chen H, Hirota K, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet. 2002;32: 614-621.
-
(2002)
Nat Genet.
, vol.32
, pp. 614-621
-
-
Ang, S.O.1
Chen, H.2
Hirota, K.3
-
3
-
-
58049215232
-
Phd2 mutation and congenital erythrocytosis with paraganglioma
-
Ladroue C, Carcenac R, Leporrier M, et al. PHD2 mutation and congenital erythrocytosis with paraganglioma.NEngl J Med. 2008; 359:2685-2692.
-
(2008)
NEngl J Med.
, vol.359
, pp. 2685-2692
-
-
Ladroue, C.1
Carcenac, R.2
Leporrier, M.3
-
4
-
-
38049173572
-
A gain-of-function mutation in the hif2a gene in familial erythrocytosis
-
Percy MJ, Furlow PW, Lucas GS, et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med. 2008; 358:162-168.
-
(2008)
N Engl J Med.
, vol.358
, pp. 162-168
-
-
Percy, M.J.1
Furlow, P.W.2
Lucas, G.S.3
-
5
-
-
45949112024
-
Novel exon 12 mutations in the hif2a gene associated with erythrocytosis
-
Percy MJ, Beer PA, Campbell G, et al. Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. Blood. 2008;111: 5400-5402.
-
(2008)
Blood.
, vol.111
, pp. 5400-5402
-
-
Percy, M.J.1
Beer, P.A.2
Campbell, G.3
-
6
-
-
84865694593
-
Somatic hif2a gain-of-function mutations in paraganglioma with polycythemia
-
Zhuang Z, Yang C, Lorenzo F, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.NEngl J Med. 2012;367:922-930.
-
(2012)
NEngl J Med.
, vol.367
, pp. 922-930
-
-
Zhuang, Z.1
Yang, C.2
Lorenzo, F.3
-
8
-
-
84879606718
-
A novel epas1/hif2a germline mutation in a congenital polycythemia with paraganglioma
-
Lorenzo FR, Yang C, Ng Tang Fui M, et al. A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. J Mol Med (Berl). 2013;91:507-512.
-
(2013)
J Mol Med (Berl).
, vol.91
, pp. 507-512
-
-
Lorenzo, F.R.1
Yang, C.2
Ng Tang Fui, M.3
-
9
-
-
84877906693
-
Tumoral epas1 (hif2a) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
-
Comino-Méndez I, de Cubas AA, Bernal C, et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet. 2013; 22(11):2169-2176.
-
(2013)
Hum Mol Genet.
, vol.22
, Issue.11
, pp. 2169-2176
-
-
Comino-Méndez, I.1
De Cubas, A.A.2
Bernal, C.3
-
10
-
-
84879204302
-
New syndrome of paraganglioma and somatostatinoma associated with polycythemia
-
Pacak K, Jochmanova I, Prodanov T, et al. New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol. 2013;31:1690-1698.
-
(2013)
J Clin Oncol.
, vol.31
, pp. 1690-1698
-
-
Pacak, K.1
Jochmanova, I.2
Prodanov, T.3
-
11
-
-
84879468754
-
In vivo and in vitro oncogenic effects of hif2a mutations in pheochromocytomas and paragangliomas
-
Toledo RA, Qin Y, Srikantan S, et al. In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2013;20(3):349-359.
-
(2013)
Endocr Relat Cancer.
, vol.20
, Issue.3
, pp. 349-359
-
-
Toledo, R.A.1
Qin, Y.2
Srikantan, S.3
-
12
-
-
84877696895
-
First report of bilateral pheochromocytoma in the clinical spectrum of hif2a-related polycythemia- paraganglioma syndrome
-
Taïeb D, Yang C, Delenne B, et al. First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia- paraganglioma syndrome. J Clin Endocrinol Metab. 2013; 98(5):E908-E913.
-
(2013)
J Clin Endocrinol Metab.
, vol.98
, Issue.5
-
-
Taïeb, D.1
Yang, C.2
Delenne, B.3
-
13
-
-
84878391649
-
Novel hif2a mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas
-
Yang C, Sun MG, Matro J, et al. Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Blood. 2013;121:2563-2566.
-
(2013)
Blood.
, vol.121
, pp. 2563-2566
-
-
Yang, C.1
Sun, M.G.2
Matro, J.3
-
14
-
-
84870004468
-
Somatic nf1 inactivation is a frequent event in sporadic pheochromocytoma
-
Burnichon N, Buffet A, Parfait B, et al. Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet. 2012;21:5397-5405.
-
(2012)
Hum Mol Genet.
, vol.21
, pp. 5397-5405
-
-
Burnichon, N.1
Buffet, A.2
Parfait, B.3
-
15
-
-
75149174239
-
Mutation analysis of hypoxia- inducible factors hif1a and hif2a in renal cell carcinoma
-
Morris MR, Hughes DJ, Tian YM, et al. Mutation analysis of hypoxia- inducible factors HIF1A and HIF2A in renal cell carcinoma. Anticancer Res. 2009;29:4337-4343.
-
(2009)
Anticancer Res.
, vol.29
, pp. 4337-4343
-
-
Morris, M.R.1
Hughes, D.J.2
Tian, Y.M.3
-
17
-
-
84876592083
-
A genomic view of mosaicism and human disease
-
Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013;14:307-320.
-
(2013)
Nat Rev Genet.
, vol.14
, pp. 307-320
-
-
Biesecker, L.G.1
Spinner, N.B.2
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