-
1
-
-
0034602950
-
Mutations in the SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal BE, Ferrel RE, Willett-Brozick JE, et al. Mutations in the SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000, 287:848-51.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrel, R.E.2
Willett-Brozick, J.E.3
-
2
-
-
0035857957
-
Germline SDHD mutation in familial pheochromocytoma
-
Astuti D, Douglas F, Lennard TW, et al. Germline SDHD mutation in familial pheochromocytoma. Lancet 2001, 357: 1181-2.
-
(2001)
Lancet
, vol.357
, pp. 1181-1182
-
-
Astuti, D.1
Douglas, F.2
Lennard, T.W.3
-
3
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial phechromocytoma and to familial paraganglioma
-
Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial phechromocytoma and to familial paraganglioma. Am J Hum Genet 2001, 69: 49-54.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
-
4
-
-
0037046659
-
Germline mutations in nonsyndromic pheochromocytoma
-
Neumann HPH, Bausch B, McWhinney SR, et al. Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002, 346: 1459-66.
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.H.1
Bausch, B.2
McWhinney, S.R.3
-
5
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348: 2656-68.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
6
-
-
0035213138
-
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway
-
Gimenez-Roqueplo AP, Favier J, Rustin P, et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 2001, 69: 1186-97.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1186-1197
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
-
7
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
Neumann HPH, Pawlu C, Peczkowska M, et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292: 943-51.
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.H.1
Pawlu, C.2
Peczkowska, M.3
-
8
-
-
0036774422
-
Functional consequences of a SDHB gene mutation in an apparently sporadic phechromocytoma
-
Gimenez-Roqueplo AP, Favier J, Rustin P, et al. Functional consequences of a SDHB gene mutation in an apparently sporadic phechromocytoma. J Clin Endocrinol Metab 2002, 87: 4771-4.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4771-4774
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
-
9
-
-
0036731623
-
Familial malignant catecholamine secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene
-
Young AL, Baysal BE, Deb A, Young WF Jr. Familial malignant catecholamine secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocriol Metab 2002, 87: 4101-5.
-
(2002)
J Clin Endocriol Metab
, vol.87
, pp. 4101-4105
-
-
Young, A.L.1
Baysal, B.E.2
Deb, A.3
Young Jr., W.F.4
-
10
-
-
0034977649
-
Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL 1), in pheochromocytomas
-
Aguiar RC, Cox G, Pomeroy SL, Dahia PL. Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL 1), in pheochromocytomas. J Clin Endocrinol Metab 2001, 86: 2890-4.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2890-2894
-
-
Aguiar, R.C.1
Cox, G.2
Pomeroy, S.L.3
Dahia, P.L.4
|