-
2
-
-
0037046659
-
Germ-line mutations in non-syndromic pheochromocytoma
-
NEUMANN, H.P.H. et al. 2002. Germ-line mutations in non-syndromic pheochromocytoma. N. Engl. J. Med. 346: 1459-1466.
-
(2002)
N. Engl. J. Med.
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.H.1
-
3
-
-
0028881998
-
Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium
-
MULLIGAN, L.M. et al. 1995. Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J. Intern. Med. 238: 343-346.
-
(1995)
J. Intern. Med.
, vol.238
, pp. 343-346
-
-
Mulligan, L.M.1
-
4
-
-
0042913365
-
Pheochromocytoma: The expanding genetic differential diagnosis
-
BRYANT, J. et al. 2003. Pheochromocytoma: the expanding genetic differential diagnosis. J. Natl. Cancer Inst. 95: 1196-204.
-
(2003)
J. Natl. Cancer Inst.
, vol.95
, pp. 1196-1204
-
-
Bryant, J.1
-
5
-
-
17744374251
-
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes
-
EISENHOFER, G. et al. 2001. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J. Clin. Endocrinol. Metab. 86: 1999-2008.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 1999-2008
-
-
Eisenhofer, G.1
-
6
-
-
21344453426
-
Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2
-
MACHENS, A. et al. 2005. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J. Clin. Endocrinol. Metab. 90: 3999-4003.
-
(2005)
J. Clin. Endocrinol. Metab.
, vol.90
, pp. 3999-4003
-
-
Machens, A.1
-
7
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
LATIF, F. et al. 1993. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260: 1317-1320.
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
-
8
-
-
7844234770
-
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
-
STOLLE, C. et al. 1998. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum. Mutat. 12: 417-423.
-
(1998)
Hum. Mutat.
, vol.12
, pp. 417-423
-
-
Stolle, C.1
-
9
-
-
0035231908
-
Von Hippel-Lindau disease: Genetic and clinical observations
-
P.L.M. Dahia & C. Eng, Eds.: Karger. Basel, Switzerland
-
ILIOPOULOS, O. 2001. Von Hippel-Lindau disease: genetic and clinical observations. In Genetic Disorders of Endocrine Neoplasia. Frontiers in Hormone Research P.L.M. Dahia & C. Eng, Eds.: 131-166. Karger. Basel, Switzerland.
-
(2001)
Genetic Disorders of Endocrine Neoplasia. Frontiers in Hormone Research
, pp. 131-166
-
-
Iliopoulos, O.1
-
10
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene in hereditary paraganglioma
-
BAYSAL, B.E. et al. 2000. Mutations in SDHD, a mitochondrial complex II gene in hereditary paraganglioma. Science 287: 848-851.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
-
11
-
-
0034671551
-
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
-
GIMM, O. et al. 2000. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res. 60: 6822-6825.
-
(2000)
Cancer Res.
, vol.60
, pp. 6822-6825
-
-
Gimm, O.1
-
12
-
-
0034998621
-
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
-
TASCHNER, P.E.M. et al. 2001. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 31: 274-281.
-
(2001)
Genes Chromosomes Cancer
, vol.31
, pp. 274-281
-
-
Taschner, P.E.M.1
-
13
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
NEUMANN, H.P.H. et al. 2004. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292: 943-951.
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.H.1
-
14
-
-
19944392584
-
Mutations of the SDHB and SDHD genes
-
PAWLU, C. et al. 2005. Mutations of the SDHB and SDHD genes. Fam. Cancer 4: 49-54.
-
(2005)
Fam. Cancer
, vol.4
, pp. 49-54
-
-
Pawlu, C.1
-
15
-
-
8744288709
-
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma
-
MCWHINNEY, S.R. et al. 2004. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. J. Clin. Endocrinol. Metab. 89: 5694-5699.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 5694-5699
-
-
McWhinney, S.R.1
-
16
-
-
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, A.P. et al. 2001. 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. 69: 1186-1197.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1186-1197
-
-
Gimenez-Roqueplo, A.P.1
-
17
-
-
0038746912
-
G12S and H50R variations are polymorphisms in the SDHD gene
-
CASCON, A. et al. 2003. G12S and H50R variations are polymorphisms in the SDHD gene. Genes Chromosomes Cancer 37: 220-221.
-
(2003)
Genes Chromosomes Cancer
, vol.37
, pp. 220-221
-
-
Cascon, A.1
-
18
-
-
0032514466
-
A mutation in succinate dehydrogenase cytochrome B causes oxidative stress and ageing in nematodes
-
ISHII, N. et al. 1998. A mutation in succinate dehydrogenase cytochrome B causes oxidative stress and ageing in nematodes. Nature 394: 694-697.
-
(1998)
Nature
, vol.394
, pp. 694-697
-
-
Ishii, N.1
-
19
-
-
19944367296
-
SDHC mutations in hereditary paraganglioma-pheochromocytoma
-
MULLER, U. et al. 2005. SDHC mutations in hereditary paraganglioma- pheochromocytoma. Fam. Cancer 4: 9-12.
-
(2005)
Fam. Cancer
, vol.4
, pp. 9-12
-
-
Muller, U.1
-
20
-
-
0036774422
-
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
-
GIMENEZ-ROQUEPLO, A.P. et al. 2002. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J. Clin. Endocrinol. Metab. 87: 4771-4774.
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 4771-4774
-
-
Gimenez-Roqueplo, A.P.1
-
21
-
-
0042566135
-
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect
-
ASTROM, K. et al. 2003. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum. Genet. 113: 228-237.
-
(2003)
Hum. Genet.
, vol.113
, pp. 228-237
-
-
Astrom, K.1
-
22
-
-
0141704510
-
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant pheochromocytoma
-
GIMENEZ-ROQUEPLO, A.P. et al. 2003. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant pheochromocytoma. Cancer Res. 63: 5615-5621.
-
(2003)
Cancer Res.
, vol.63
, pp. 5615-5621
-
-
Gimenez-Roqueplo, A.P.1
-
23
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
ASTUTI, D. et al. 2001. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am. J. Hum. Genet. 69: 49-54.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 49-54
-
-
Astuti, D.1
-
24
-
-
0036301097
-
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
-
WAUTOT, V. et al. 2002. Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum. Mutat. 20: 35-47.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 35-47
-
-
Wautot, V.1
-
25
-
-
13444304438
-
Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing
-
ELLARD, S. et al. 2005. Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin. Endocrinol 62: 169-175.
-
(2005)
Clin. Endocrinol
, vol.62
, pp. 169-175
-
-
Ellard, S.1
-
26
-
-
0035835817
-
Neurofibromin, a tumor suppressor in the nervous system
-
ZHU, Y. & L.F. PARADA. 2001. Neurofibromin, a tumor suppressor in the nervous system. Exp. Cell. Res. 264: 19-28.
-
(2001)
Exp. Cell. Res.
, vol.264
, pp. 19-28
-
-
Zhu, Y.1
Parada, L.F.2
-
27
-
-
0033064974
-
Gastric stromal sarcoma, pulmonary chondroma, and extraadrenal paraganglioma (Carney triad): Natural history, adrenocortical component, and possible familial occurrence
-
CARNEY, J.A. 1999. Gastric stromal sarcoma, pulmonary chondroma, and extraadrenal paraganglioma (Carney triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin. Pro. 74: 543-552.
-
(1999)
Mayo Clin. Pro.
, vol.74
, pp. 543-552
-
-
Carney, J.A.1
-
28
-
-
23844520735
-
Phaeochromocytoma
-
LENDERS, J.W.M. et al. 2005. Phaeochromocytoma. Lancet 366: 665-675.
-
(2005)
Lancet
, vol.366
, pp. 665-675
-
-
Lenders, J.W.M.1
-
29
-
-
24944531368
-
Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A
-
SKINNER, M.A. 2005. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N. Engl. J. Med. 353: 1105-1113.
-
(2005)
N. Engl. J. Med.
, vol.353
, pp. 1105-1113
-
-
Skinner, M.A.1
|