-
1
-
-
84860834761
-
An update on the genetics of paraganglioma, pheochromcytoma, and associated hereditary syndromes
-
Gimenez-Roqueplo, A.P., Dahia, P.L., &, Robledo, M., (2012) An update on the genetics of paraganglioma, pheochromcytoma, and associated hereditary syndromes. Hormone and Metabolic Research, 44, 328-333.
-
(2012)
Hormone and Metabolic Research
, vol.44
, pp. 328-333
-
-
Gimenez-Roqueplo, A.P.1
Dahia, P.L.2
Robledo, M.3
-
2
-
-
80053139912
-
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
-
Burnichon, N., Vescovo, L., Amar, L., et al,. (2011) Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Human Molecular Genetics, 20, 3974-3985.
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 3974-3985
-
-
Burnichon, N.1
Vescovo, L.2
Amar, L.3
-
3
-
-
84870801743
-
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromcytomas
-
Welander, J., Larsson, C., Backdahl, M., et al,. (2012) Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromcytomas. Human Molecular Genetics, 21, 5406-5416.
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 5406-5416
-
-
Welander, J.1
Larsson, C.2
Backdahl, M.3
-
4
-
-
84879468754
-
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromcytomas and paragangliomas
-
Toledo, R.A., Qin, Y., Srikantan, S., et al,. (2013) In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromcytomas and paragangliomas. Endocrine-Related Cancer, 20, 349-359.
-
(2013)
Endocrine-Related Cancer
, vol.20
, pp. 349-359
-
-
Toledo, R.A.1
Qin, Y.2
Srikantan, S.3
-
5
-
-
84879920967
-
Somatic mutations in H-RAS in sporadic pheochromcytoma and paraganglioma identified by exome sequencing
-
Crona, J., Delgado Verdugo, A., Maharjan, R., et al,. (2013) Somatic mutations in H-RAS in sporadic pheochromcytoma and paraganglioma identified by exome sequencing. Journal of Clinical Endocrinology and Metabolism, 98, E1266-E1271.
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
-
-
Crona, J.1
Delgado Verdugo, A.2
Maharjan, R.3
-
6
-
-
66149098136
-
Clinically guided genetic screening in a large cohort of Italian patients with pheochromcytomas and/or functional or nonfunctional paragangliomas
-
Mannelli, M., Castellano, M., Schiavi, F., et al,. (2009) Clinically guided genetic screening in a large cohort of Italian patients with pheochromcytomas and/or functional or nonfunctional paragangliomas. Journal of Clinical Endocrinology and Metabolism, 94, 1541-1547.
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 1541-1547
-
-
Mannelli, M.1
Castellano, M.2
Schiavi, F.3
-
7
-
-
70350211961
-
Rationalization of genetic testing in patients with apparently sporadic pheochromcytoma/paraganglioma
-
Cascon, A., Lopez-Jimenez, E., Landa, I., et al,. (2009) Rationalization of genetic testing in patients with apparently sporadic pheochromcytoma/ paraganglioma. Hormone and Metabolic Research, 41, 672-675.
-
(2009)
Hormone and Metabolic Research
, vol.41
, pp. 672-675
-
-
Cascon, A.1
Lopez-Jimenez, E.2
Landa, I.3
-
8
-
-
80053557894
-
Human genome sequencing in health and disease
-
Gonzaga-Jauregui, C., Lupski, J.R., &, Gibbs, R.A., (2012) Human genome sequencing in health and disease. Annual Review of Medicine, 63, 35-61.
-
(2012)
Annual Review of Medicine
, vol.63
, pp. 35-61
-
-
Gonzaga-Jauregui, C.1
Lupski, J.R.2
Gibbs, R.A.3
-
9
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromcytoma
-
Comino-Mendez, I., Gracia-Aznarez, F.J., Schiavi, F., et al,. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromcytoma. Nature Genetics, 43, 663-667.
-
(2011)
Nature Genetics
, vol.43
, pp. 663-667
-
-
Comino-Mendez, I.1
Gracia-Aznarez, F.J.2
Schiavi, F.3
-
10
-
-
84878969599
-
SDH mutations establish a hypermethylator phenotype in paraganglioma
-
Letouze, E., Martinelli, C., Loriot, C., et al,. (2013) SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell, 23, 739-752.
-
(2013)
Cancer Cell
, vol.23
, pp. 739-752
-
-
Letouze, E.1
Martinelli, C.2
Loriot, C.3
-
11
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang, Y., Muzny, D.M., Reid, J.G., et al,. (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. New England Journal of Medicine, 369, 1502-1511.
-
(2013)
New England Journal of Medicine
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
12
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh, T., Lee, M.K., Casadei, S., et al,. (2010) Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America, 107, 12629-12633.
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
-
13
-
-
84879922796
-
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromcytoma and paraganglioma
-
Rattenberry, E., Vialard, L., Yeung, A., et al,. (2013) A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromcytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism, 98, E1248-E1256.
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
-
-
Rattenberry, E.1
Vialard, L.2
Yeung, A.3
-
14
-
-
84889581599
-
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
-
McInerney-Leo, A.M., Marshall, M.S., Gardiner, B., et al,. (2013) Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80, 25-33.
-
(2013)
Clinical Endocrinology
, vol.80
, pp. 25-33
-
-
McInerney-Leo, A.M.1
Marshall, M.S.2
Gardiner, B.3
-
15
-
-
84888870167
-
Next-generation sequencing in the clinical genetic screening of patients with pheochromcytoma and paraganglioma
-
Crona, J., Verdugo, A.D., Granberg, D., et al,. (2013) Next-generation sequencing in the clinical genetic screening of patients with pheochromcytoma and paraganglioma. Endocrine Connections, 2, 104-111.
-
(2013)
Endocrine Connections
, vol.2
, pp. 104-111
-
-
Crona, J.1
Verdugo, A.D.2
Granberg, D.3
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