-
1
-
-
0024294392
-
Guanosine triphosphatase activating protein (GAP) interacts with the p21 ras effector binding domain
-
Adari H., Lowy D.R., Willumsen B.M., Der C.J., McCormick F. Guanosine triphosphatase activating protein (GAP) interacts with the p21 ras effector binding domain. Science 1988, 240:518-521.
-
(1988)
Science
, vol.240
, pp. 518-521
-
-
Adari, H.1
Lowy, D.R.2
Willumsen, B.M.3
Der, C.J.4
McCormick, F.5
-
2
-
-
33644834491
-
Genetic testing in pheochromocytoma or functional paraganglioma
-
Amar L., Bertherat J., Baudin E., Ajzenberg C., Bressac-de Paillerets B., Chabre O., Chamontin B., Delemer B., Giraud S., Murat A., Niccoli-Sire P., Richard S., Rohmer V., Sadoul J.L., Strompf L., Schlumberger M., Bertagna X., Plouin P.F., Jeunemaitre X., Gimenez-Roqueplo A.P. Genetic testing in pheochromocytoma or functional paraganglioma. J. Clin. Oncol. 2005, 23:8812-8818.
-
(2005)
J. Clin. Oncol.
, vol.23
, pp. 8812-8818
-
-
Amar, L.1
Bertherat, J.2
Baudin, E.3
Ajzenberg, C.4
Bressac-de Paillerets, B.5
Chabre, O.6
Chamontin, B.7
Delemer, B.8
Giraud, S.9
Murat, A.10
Niccoli-Sire, P.11
Richard, S.12
Rohmer, V.13
Sadoul, J.L.14
Strompf, L.15
Schlumberger, M.16
Bertagna, X.17
Plouin, P.F.18
Jeunemaitre, X.19
Gimenez-Roqueplo, A.P.20
more..
-
4
-
-
33748755275
-
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma
-
Bausch B., Koschker A.C., Fassnacht M., Stoevesandt J., Hoffmann M.M., Eng C., Allolio B., Neumann H.P. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. J. Clin. Endocrinol. Metab. 2006, 91:3478-3481.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, pp. 3478-3481
-
-
Bausch, B.1
Koschker, A.C.2
Fassnacht, M.3
Stoevesandt, J.4
Hoffmann, M.M.5
Eng, C.6
Allolio, B.7
Neumann, H.P.8
-
5
-
-
77950342008
-
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
-
Bayley J.P., Kunst H.P., Cascon A., Sampietro M.L., Gaal J., Korpershoek E., Hinojar-Gutierrez A., Timmers H.J., Hoefsloot L.H., Hermsen M.A., Suarez C., Hussain A.K., Vriends A.H., Hes F.J., Jansen J.C., Tops C.M., Corssmit E.P., de Knijff P., Lenders J.W., Cremers C.W., Devilee P., Dinjens W.N., de Krijger R.R., Robledo M. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol. 2010, 11:366-372.
-
(2010)
Lancet Oncol.
, vol.11
, pp. 366-372
-
-
Bayley, J.P.1
Kunst, H.P.2
Cascon, A.3
Sampietro, M.L.4
Gaal, J.5
Korpershoek, E.6
Hinojar-Gutierrez, A.7
Timmers, H.J.8
Hoefsloot, L.H.9
Hermsen, M.A.10
Suarez, C.11
Hussain, A.K.12
Vriends, A.H.13
Hes, F.J.14
Jansen, J.C.15
Tops, C.M.16
Corssmit, E.P.17
de Knijff, P.18
Lenders, J.W.19
Cremers, C.W.20
Devilee, P.21
Dinjens, W.N.22
de Krijger, R.R.23
Robledo, M.24
more..
-
6
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E., Rubinstein W.S., Myers E.N., Richard C.W., Cornelisse C.J., Devilee P., Devlin B. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000, 287:848-851.
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
van der Mey, A.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
Richard, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
7
-
-
56449098562
-
Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: an exploratory analysis
-
(discussion 1050-3)
-
Brauckhoff M., Machens A., Hess S., Lorenz K., Gimm O., Brauckhoff K., Sekulla C., Dralle H. Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: an exploratory analysis. Surgery 2008, 144:1044-1050. (discussion 1050-3).
-
(2008)
Surgery
, vol.144
, pp. 1044-1050
-
-
Brauckhoff, M.1
Machens, A.2
Hess, S.3
Lorenz, K.4
Gimm, O.5
Brauckhoff, K.6
Sekulla, C.7
Dralle, H.8
-
8
-
-
33751528825
-
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing
-
Brouwers F.M., Eisenhofer G., Tao J.J., Kant J.A., Adams K.T., Linehan W.M., Pacak K. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J. Clin. Endocrinol. Metab. 2006, 91:4505-4509.
-
(2006)
J. Clin. Endocrinol. Metab.
, vol.91
, pp. 4505-4509
-
-
Brouwers, F.M.1
Eisenhofer, G.2
Tao, J.J.3
Kant, J.A.4
Adams, K.T.5
Linehan, W.M.6
Pacak, K.7
-
9
-
-
0042913365
-
Pheochromocytoma: the expanding genetic differential diagnosis
-
Bryant J., Farmer J., Kessler L.J., Townsend R.R., Nathanson K.L. Pheochromocytoma: the expanding genetic differential diagnosis. J. Natl Cancer Inst. 2003, 95:1196-1204.
-
(2003)
J. Natl Cancer Inst.
, vol.95
, pp. 1196-1204
-
-
Bryant, J.1
Farmer, J.2
Kessler, L.J.3
Townsend, R.R.4
Nathanson, K.L.5
-
10
-
-
68549092478
-
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
-
Burnichon N., Rohmer V., Amar L., Herman P., Leboulleux S., Darrouzet V., Niccoli P., Gaillard D., Chabrier G., Chabolle F., Coupier I., Thieblot P., Lecomte P., Bertherat J., Wion-Barbot N., Murat A., Venisse A., Plouin P.F., Jeunemaitre X., Gimenez-Roqueplo A.P. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J. Clin. Endocrinol. Metab. 2009, 94:2817-2827.
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, pp. 2817-2827
-
-
Burnichon, N.1
Rohmer, V.2
Amar, L.3
Herman, P.4
Leboulleux, S.5
Darrouzet, V.6
Niccoli, P.7
Gaillard, D.8
Chabrier, G.9
Chabolle, F.10
Coupier, I.11
Thieblot, P.12
Lecomte, P.13
Bertherat, J.14
Wion-Barbot, N.15
Murat, A.16
Venisse, A.17
Plouin, P.F.18
Jeunemaitre, X.19
Gimenez-Roqueplo, A.P.20
more..
-
11
-
-
77958164441
-
SDHA is a tumor suppressor gene causing paraganglioma
-
Burnichon N., Briere J.J., Libe R., Vescovo L., Riviere J., Tissier F., Jouanno E., Jeunemaitre X., Benit P., Tzagoloff A., Rustin P., Bertherat J., Favier J., Gimenez-Roqueplo A.P. SDHA is a tumor suppressor gene causing paraganglioma. Hum. Mol. Genet. 2010, 19:3011-3020.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3011-3020
-
-
Burnichon, N.1
Briere, J.J.2
Libe, R.3
Vescovo, L.4
Riviere, J.5
Tissier, F.6
Jouanno, E.7
Jeunemaitre, X.8
Benit, P.9
Tzagoloff, A.10
Rustin, P.11
Bertherat, J.12
Favier, J.13
Gimenez-Roqueplo, A.P.14
-
12
-
-
80053139912
-
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
-
Burnichon N., Vescovo L., Amar L., Libe R., de Reynies A., Venisse A., Jouanno E., Laurendeau I., Parfait B., Bertherat J., Plouin P.F., Jeunemaitre X., Favier J., Gimenez-Roqueplo A.P. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum. Mol. Genet. 2011, 20:3974-3985.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 3974-3985
-
-
Burnichon, N.1
Vescovo, L.2
Amar, L.3
Libe, R.4
de Reynies, A.5
Venisse, A.6
Jouanno, E.7
Laurendeau, I.8
Parfait, B.9
Bertherat, J.10
Plouin, P.F.11
Jeunemaitre, X.12
Favier, J.13
Gimenez-Roqueplo, A.P.14
-
13
-
-
78751504432
-
A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma
-
Burnichon N., Lepoutre-Lussey C., Laffaire J., Gadessaud N., Molinie V., Hernigou A., Plouin P.F., Jeunemaitre X., Favier J., Gimenez-Roqueplo A.P. A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma. Eur. J. Endocrinol./Eur. Federa. Endocrine Soc. 2011, 164:141-145.
-
(2011)
Eur. J. Endocrinol./Eur. Federa. Endocrine Soc.
, vol.164
, pp. 141-145
-
-
Burnichon, N.1
Lepoutre-Lussey, C.2
Laffaire, J.3
Gadessaud, N.4
Molinie, V.5
Hernigou, A.6
Plouin, P.F.7
Jeunemaitre, X.8
Favier, J.9
Gimenez-Roqueplo, A.P.10
-
14
-
-
84861140704
-
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
-
Burnichon N., Cascon A., Schiavi F., Morales N.P., Comino-Mendez I., Abermil N., Inglada-Perez L., de Cubas A.A., Amar L., Barontini M., de Quiros S.B., Bertherat J., Bignon Y.J., Blok M.J., Bobisse S., Borrego S., Castellano M., Chanson P., Chiara M.D., Corssmit E.P., Giacche M., de Krijger R.R., Ercolino T., Girerd X., Gomez-Garcia E.B., Gomez-Grana A., Guilhem I., Hes F.J., Honrado E., Korpershoek E., Lenders J.W., Leton R., Mensenkamp A.R., Merlo A., Mori L., Murat A., Pierre P., Plouin P.F., Prodanov T., Quesada-Charneco M., Qin N., Rapizzi E., Raymond V., Reisch N., Roncador G., Ruiz-Ferrer M., Schillo F., Stegmann A.P., Suarez C., Taschin E., Timmers H.J., Tops C.M., Urioste M., Beuschlein F., Pacak K., Mannelli M., Dahia P.L., Opocher G., Eisenhofer G., Gimenez-Roqueplo A.P., Robledo M. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin. Cancer Res. 2012, 18:2828-2837.
-
(2012)
Clin. Cancer Res.
, vol.18
, pp. 2828-2837
-
-
Burnichon, N.1
Cascon, A.2
Schiavi, F.3
Morales, N.P.4
Comino-Mendez, I.5
Abermil, N.6
Inglada-Perez, L.7
de Cubas, A.A.8
Amar, L.9
Barontini, M.10
de Quiros, S.B.11
Bertherat, J.12
Bignon, Y.J.13
Blok, M.J.14
Bobisse, S.15
Borrego, S.16
Castellano, M.17
Chanson, P.18
Chiara, M.D.19
Corssmit, E.P.20
Giacche, M.21
de Krijger, R.R.22
Ercolino, T.23
Girerd, X.24
Gomez-Garcia, E.B.25
Gomez-Grana, A.26
Guilhem, I.27
Hes, F.J.28
Honrado, E.29
Korpershoek, E.30
Lenders, J.W.31
Leton, R.32
Mensenkamp, A.R.33
Merlo, A.34
Mori, L.35
Murat, A.36
Pierre, P.37
Plouin, P.F.38
Prodanov, T.39
Quesada-Charneco, M.40
Qin, N.41
Rapizzi, E.42
Raymond, V.43
Reisch, N.44
Roncador, G.45
Ruiz-Ferrer, M.46
Schillo, F.47
Stegmann, A.P.48
Suarez, C.49
Taschin, E.50
Timmers, H.J.51
Tops, C.M.52
Urioste, M.53
Beuschlein, F.54
Pacak, K.55
Mannelli, M.56
Dahia, P.L.57
Opocher, G.58
Eisenhofer, G.59
Gimenez-Roqueplo, A.P.60
Robledo, M.61
more..
-
15
-
-
0032581277
-
Role of HIF-1alpha in hypoxia-mediated apoptosis, cell proliferation and tumour angiogenesis
-
Carmeliet P., Dor Y., Herbert J.M., Fukumura D., Brusselmans K., Dewerchin M., Neeman M., Bono F., Abramovitch R., Maxwell P., Koch C.J., Ratcliffe P., Moons L., Jain R.K., Collen D., Keshert E. Role of HIF-1alpha in hypoxia-mediated apoptosis, cell proliferation and tumour angiogenesis. Nature 1998, 394:485-490.
-
(1998)
Nature
, vol.394
, pp. 485-490
-
-
Carmeliet, P.1
Dor, Y.2
Herbert, J.M.3
Fukumura, D.4
Brusselmans, K.5
Dewerchin, M.6
Neeman, M.7
Bono, F.8
Abramovitch, R.9
Maxwell, P.10
Koch, C.J.11
Ratcliffe, P.12
Moons, L.13
Jain, R.K.14
Collen, D.15
Keshert, E.16
-
16
-
-
84863605700
-
MAX and MYC: a heritable breakup
-
Cascon A., Robledo M. MAX and MYC: a heritable breakup. Cancer Res. 2012, 72:3119-3124.
-
(2012)
Cancer Res.
, vol.72
, pp. 3119-3124
-
-
Cascon, A.1
Robledo, M.2
-
17
-
-
77955761570
-
Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma
-
Cerecer-Gil N.Y., Figuera L.E., Llamas F.J., Lara M., Escamilla J.G., Ramos R., Estrada G., Hussain A.K., Gaal J., Korpershoek E., de Krijger R.R., Dinjens W.N., Devilee P., Bayley J.P. Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma. Clin. Cancer Res. 2010, 16:4148-4154.
-
(2010)
Clin. Cancer Res.
, vol.16
, pp. 4148-4154
-
-
Cerecer-Gil, N.Y.1
Figuera, L.E.2
Llamas, F.J.3
Lara, M.4
Escamilla, J.G.5
Ramos, R.6
Estrada, G.7
Hussain, A.K.8
Gaal, J.9
Korpershoek, E.10
de Krijger, R.R.11
Dinjens, W.N.12
Devilee, P.13
Bayley, J.P.14
-
18
-
-
0028981766
-
Germline mutations in the von hippel-lindau disease tumor suppressor gene: correlation with phenotype
-
Chen F., Kishida T., Yao M., Hustad T., Glavac D., Dean M., Gnarra J., Orcutt M., Duh F., Glenn G., Green J., Hsia Y., Lamiell J., Li H., Wei M., Schmidt L., Tory K., Kuzmin I., Stackhouse T., Latif F., Linehan W., Lerman M., Zbar B. Germline mutations in the von hippel-lindau disease tumor suppressor gene: correlation with phenotype. Hum. Mutat. 1995, 5:66-75.
-
(1995)
Hum. Mutat.
, vol.5
, pp. 66-75
-
-
Chen, F.1
Kishida, T.2
Yao, M.3
Hustad, T.4
Glavac, D.5
Dean, M.6
Gnarra, J.7
Orcutt, M.8
Duh, F.9
Glenn, G.10
Green, J.11
Hsia, Y.12
Lamiell, J.13
Li, H.14
Wei, M.15
Schmidt, L.16
Tory, K.17
Kuzmin, I.18
Stackhouse, T.19
Latif, F.20
Linehan, W.21
Lerman, M.22
Zbar, B.23
more..
-
19
-
-
0028938702
-
Von Hippel-Lindau disease: genetic, clinical, and imaging features
-
Choyke P.L., Glenn G.M., Walther M.M., Patronas N.J., Linehan W.M., Zbar B. Von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 1995, 194:629-642.
-
(1995)
Radiology
, vol.194
, pp. 629-642
-
-
Choyke, P.L.1
Glenn, G.M.2
Walther, M.M.3
Patronas, N.J.4
Linehan, W.M.5
Zbar, B.6
-
20
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
Comino-Mendez I., Gracia-Aznarez F.J., Schiavi F., Landa I., Leandro-Garcia L.J., Leton R., Honrado E., Ramos-Medina R., Caronia D., Pita G., Gomez-Grana A., de Cubas A.A., Inglada-Perez L., Maliszewska A., Taschin E., Bobisse S., Pica G., Loli P., Hernandez-Lavado R., Diaz J.A., Gomez-Morales M., Gonzalez-Neira A., Roncador G., Rodriguez-Antona C., Benitez J., Mannelli M., Opocher G., Robledo M., Cascon A. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat. Genet. 2011, 43:663-667.
-
(2011)
Nat. Genet.
, vol.43
, pp. 663-667
-
-
Comino-Mendez, I.1
Gracia-Aznarez, F.J.2
Schiavi, F.3
Landa, I.4
Leandro-Garcia, L.J.5
Leton, R.6
Honrado, E.7
Ramos-Medina, R.8
Caronia, D.9
Pita, G.10
Gomez-Grana, A.11
de Cubas, A.A.12
Inglada-Perez, L.13
Maliszewska, A.14
Taschin, E.15
Bobisse, S.16
Pica, G.17
Loli, P.18
Hernandez-Lavado, R.19
Diaz, J.A.20
Gomez-Morales, M.21
Gonzalez-Neira, A.22
Roncador, G.23
Rodriguez-Antona, C.24
Benitez, J.25
Mannelli, M.26
Opocher, G.27
Robledo, M.28
Cascon, A.29
more..
-
21
-
-
84877906693
-
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
-
Comino-Mendez I., de Cubas A.A., Bernal C., Alvarez-Escola C., Sanchez-Malo C., Ramirez-Tortosa C.L., Pedrinaci S., Rapizzi E., Ercolino T., Bernini G., Bacca A., Leton R., Pita G., Alonso M.R., Leandro-Garcia L.J., Gomez-Grana A., Inglada-Perez L., Mancikova V., Rodriguez-Antona C., Mannelli M., Robledo M., Cascon A. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum. Mol. Genet. 2013, 22:2169-2176.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2169-2176
-
-
Comino-Mendez, I.1
de Cubas, A.A.2
Bernal, C.3
Alvarez-Escola, C.4
Sanchez-Malo, C.5
Ramirez-Tortosa, C.L.6
Pedrinaci, S.7
Rapizzi, E.8
Ercolino, T.9
Bernini, G.10
Bacca, A.11
Leton, R.12
Pita, G.13
Alonso, M.R.14
Leandro-Garcia, L.J.15
Gomez-Grana, A.16
Inglada-Perez, L.17
Mancikova, V.18
Rodriguez-Antona, C.19
Mannelli, M.20
Robledo, M.21
Cascon, A.22
more..
-
22
-
-
0014787545
-
Extra-adrenal pheochromocytoma. Some electron microscopic and biochemical studies
-
Cornog J.L., Wilkinson J.H., Arvan D.A., Freed R.M., Sellers A.M., Barker C. Extra-adrenal pheochromocytoma. Some electron microscopic and biochemical studies. Am. J. Med. 1970, 48:654-660.
-
(1970)
Am. J. Med.
, vol.48
, pp. 654-660
-
-
Cornog, J.L.1
Wilkinson, J.H.2
Arvan, D.A.3
Freed, R.M.4
Sellers, A.M.5
Barker, C.6
-
23
-
-
84879920967
-
Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing
-
Crona J., Delgado Verdugo A., Maharjan R., Stalberg P., Granberg D., Hellman P., Bjorklund P. Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. J. Clin. Endocrinol. Metab. 2013.
-
(2013)
J. Clin. Endocrinol. Metab.
-
-
Crona, J.1
Delgado Verdugo, A.2
Maharjan, R.3
Stalberg, P.4
Granberg, D.5
Hellman, P.6
Bjorklund, P.7
-
24
-
-
77955594623
-
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
-
Dahia P.L., Ross K.N., Wright M.E., Hayashida C.Y., Santagata S., Barontini M., Kung A.L., Sanso G., Powers J.F., Tischler A.S., Hodin R., Heitritter S., Moore F., Dluhy R., Sosa J.A., Ocal I.T., Benn D.E., Marsh D.J., Robinson B.G., Schneider K., Garber J., Arum S.M., Korbonits M., Grossman A., Pigny P., Toledo S.P., Nose V., Li C., Stiles C.D. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005, 1:72-80.
-
(2005)
PLoS Genet.
, vol.1
, pp. 72-80
-
-
Dahia, P.L.1
Ross, K.N.2
Wright, M.E.3
Hayashida, C.Y.4
Santagata, S.5
Barontini, M.6
Kung, A.L.7
Sanso, G.8
Powers, J.F.9
Tischler, A.S.10
Hodin, R.11
Heitritter, S.12
Moore, F.13
Dluhy, R.14
Sosa, J.A.15
Ocal, I.T.16
Benn, D.E.17
Marsh, D.J.18
Robinson, B.G.19
Schneider, K.20
Garber, J.21
Arum, S.M.22
Korbonits, M.23
Grossman, A.24
Pigny, P.25
Toledo, S.P.26
Nose, V.27
Li, C.28
Stiles, C.D.29
more..
-
25
-
-
33646545660
-
Abdominal visceral lesions in von Hippel-Lindau disease: incidence and clinical behavior of pancreatic and adrenal lesions at a single center
-
Delman K.A., Shapiro S.E., Jonasch E.W., Lee J.E., Curley S.A., Evans D.B., Perrier N.D. Abdominal visceral lesions in von Hippel-Lindau disease: incidence and clinical behavior of pancreatic and adrenal lesions at a single center. World J. Surg. 2006, 30:665-669.
-
(2006)
World J. Surg.
, vol.30
, pp. 665-669
-
-
Delman, K.A.1
Shapiro, S.E.2
Jonasch, E.W.3
Lee, J.E.4
Curley, S.A.5
Evans, D.B.6
Perrier, N.D.7
-
26
-
-
84878484675
-
Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma
-
Dwight T., Mann K., Benn D.E., Robinson B.G., McKelvie P., Gill A.J., Winship I., Clifton-Bligh R.J. Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. J. Clin. Endocrinol. Metabol. 2013.
-
(2013)
J. Clin. Endocrinol. Metabol.
-
-
Dwight, T.1
Mann, K.2
Benn, D.E.3
Robinson, B.G.4
McKelvie, P.5
Gill, A.J.6
Winship, I.7
Clifton-Bligh, R.J.8
-
27
-
-
19944429270
-
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome
-
Eisenhofer G., Huynh T.T., Pacak K., Brouwers F.M., Walther M.M., Linehan W.M., Munson P.J., Mannelli M., Goldstein D.S., Elkahloun A.G. Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr. Relat. Cancer 2004, 11:897-911.
-
(2004)
Endocr. Relat. Cancer
, vol.11
, pp. 897-911
-
-
Eisenhofer, G.1
Huynh, T.T.2
Pacak, K.3
Brouwers, F.M.4
Walther, M.M.5
Linehan, W.M.6
Munson, P.J.7
Mannelli, M.8
Goldstein, D.S.9
Elkahloun, A.G.10
-
28
-
-
79952223410
-
Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma
-
Eisenhofer G., Lenders J.W., Timmers H., Mannelli M., Grebe S.K., Hofbauer L.C., Bornstein S.R., Tiebel O., Adams K., Bratslavsky G., Linehan W.M., Pacak K. Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin. Chem. 2011, 57:411-420.
-
(2011)
Clin. Chem.
, vol.57
, pp. 411-420
-
-
Eisenhofer, G.1
Lenders, J.W.2
Timmers, H.3
Mannelli, M.4
Grebe, S.K.5
Hofbauer, L.C.6
Bornstein, S.R.7
Tiebel, O.8
Adams, K.9
Bratslavsky, G.10
Linehan, W.M.11
Pacak, K.12
-
30
-
-
84870022554
-
HIF2A mutations in paraganglioma with polycythemia
-
(author reply 2161-2)
-
Favier J., Buffet A., Gimenez-Roqueplo A.P. HIF2A mutations in paraganglioma with polycythemia. N. Engl. J. Med. 2012, 367:2161. (author reply 2161-2).
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 2161
-
-
Favier, J.1
Buffet, A.2
Gimenez-Roqueplo, A.P.3
-
31
-
-
0029812442
-
Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene
-
Frank-Raue K., Kratt T., Hoppner W., Buhr H., Ziegler R., Raue F. Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. Eur. J. Endocrinol. 1996, 135:222-225.
-
(1996)
Eur. J. Endocrinol.
, vol.135
, pp. 222-225
-
-
Frank-Raue, K.1
Kratt, T.2
Hoppner, W.3
Buhr, H.4
Ziegler, R.5
Raue, F.6
-
32
-
-
84896701196
-
Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by F-FDOPA PET: focus on missed lesions
-
Gabriel S., Blanchet E.M., Sebag F., Chen C.C., Fakhry N., Deveze A., Barlier A., Morange I., Pacak K., Taieb D. Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by F-FDOPA PET: focus on missed lesions. Clin. Endocrinol. 2012.
-
(2012)
Clin. Endocrinol.
-
-
Gabriel, S.1
Blanchet, E.M.2
Sebag, F.3
Chen, C.C.4
Fakhry, N.5
Deveze, A.6
Barlier, A.7
Morange, I.8
Pacak, K.9
Taieb, D.10
-
33
-
-
77951974895
-
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
-
Gill A.J., Benn D.E., Chou A., Clarkson A., Muljono A., Meyer-Rochow G.Y., Richardson A.L., Sidhu S.B., Robinson B.G., Clifton-Bligh R.J. Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Hum. Pathol. 2010, 41:805-814.
-
(2010)
Hum. Pathol.
, vol.41
, pp. 805-814
-
-
Gill, A.J.1
Benn, D.E.2
Chou, A.3
Clarkson, A.4
Muljono, A.5
Meyer-Rochow, G.Y.6
Richardson, A.L.7
Sidhu, S.B.8
Robinson, B.G.9
Clifton-Bligh, R.J.10
-
34
-
-
40149104979
-
Recent advances in the genetics of phaeochromocytoma and functional paraganglioma
-
Gimenez-Roqueplo A.P., Burnichon N., Amar L., Favier J., Jeunemaitre X., Plouin P.F. Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. Clin. Exp. Pharmacol. Physiol. 2008, 35:376-379.
-
(2008)
Clin. Exp. Pharmacol. Physiol.
, vol.35
, pp. 376-379
-
-
Gimenez-Roqueplo, A.P.1
Burnichon, N.2
Amar, L.3
Favier, J.4
Jeunemaitre, X.5
Plouin, P.F.6
-
35
-
-
69549088424
-
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
-
Hao H.X., Khalimonchuk O., Schraders M., Dephoure N., Bayley J.P., Kunst H., Devilee P., Cremers C.W., Schiffman J.D., Bentz B.G., Gygi S.P., Winge D.R., Kremer H., Rutter J. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009, 325:1139-1142.
-
(2009)
Science
, vol.325
, pp. 1139-1142
-
-
Hao, H.X.1
Khalimonchuk, O.2
Schraders, M.3
Dephoure, N.4
Bayley, J.P.5
Kunst, H.6
Devilee, P.7
Cremers, C.W.8
Schiffman, J.D.9
Bentz, B.G.10
Gygi, S.P.11
Winge, D.R.12
Kremer, H.13
Rutter, J.14
-
36
-
-
80054737756
-
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients
-
Hensen E.F., Siemers M.D., Jansen J.C., Corssmit E.P., Romijn J.A., Tops C.M., van der Mey A.G., Devilee P., Cornelisse C.J., Bayley J.P., Vriends A.H. Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clin. Endocrinol. 2011, 75:650-655.
-
(2011)
Clin. Endocrinol.
, vol.75
, pp. 650-655
-
-
Hensen, E.F.1
Siemers, M.D.2
Jansen, J.C.3
Corssmit, E.P.4
Romijn, J.A.5
Tops, C.M.6
van der Mey, A.G.7
Devilee, P.8
Cornelisse, C.J.9
Bayley, J.P.10
Vriends, A.H.11
-
37
-
-
0026849378
-
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
-
Heutink P., van der Mey A.G., Sandkuijl L.A., van Gils A.P., Bardoel A., Breedveld G.J., van Vliet M., van Ommen G.J., Cornelisse C.J., Oostra B.A., et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum. Mol. Genet. 1992, 1:7-10.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 7-10
-
-
Heutink, P.1
van der Mey, A.G.2
Sandkuijl, L.A.3
van Gils, A.P.4
Bardoel, A.5
Breedveld, G.J.6
van Vliet, M.7
van Ommen, G.J.8
Cornelisse, C.J.9
Oostra, B.A.10
-
38
-
-
77449097012
-
Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene
-
Housley S.L., Lindsay R.S., Young B., McConachie M., Mechan D., Baty D., Christie L., Rahilly M., Qureshi K., Fleming S. Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene. Histopathology 2010, 56:405-408.
-
(2010)
Histopathology
, vol.56
, pp. 405-408
-
-
Housley, S.L.1
Lindsay, R.S.2
Young, B.3
McConachie, M.4
Mechan, D.5
Baty, D.6
Christie, L.7
Rahilly, M.8
Qureshi, K.9
Fleming, S.10
-
39
-
-
0027136050
-
Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up
-
Howe J.R., Norton J.A., Wells S.A. Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery 1993, 114:1070-1077.
-
(1993)
Surgery
, vol.114
, pp. 1070-1077
-
-
Howe, J.R.1
Norton, J.A.2
Wells, S.A.3
-
40
-
-
0345491599
-
Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation
-
Hu C.J., Wang L.Y., Chodosh L.A., Keith B., Simon M.C. Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation. Mol. Cell. Biol. 2003, 23:9361-9374.
-
(2003)
Mol. Cell. Biol.
, vol.23
, pp. 9361-9374
-
-
Hu, C.J.1
Wang, L.Y.2
Chodosh, L.A.3
Keith, B.4
Simon, M.C.5
-
41
-
-
0037108807
-
Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor
-
Ivan M., Haberberger T., Gervasi D.C., Michelson K.S., Gunzler V., Kondo K., Yang H., Sorokina I., Conaway R.C., Conaway J.W., Kaelin W.G. Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor. Proc. Natl. Acad. Sci. USA 2002, 99:13459-13464.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 13459-13464
-
-
Ivan, M.1
Haberberger, T.2
Gervasi, D.C.3
Michelson, K.S.4
Gunzler, V.5
Kondo, K.6
Yang, H.7
Sorokina, I.8
Conaway, R.C.9
Conaway, J.W.10
Kaelin, W.G.11
-
42
-
-
15444342958
-
Cellular and developmental control of O2 homeostasis by hypoxia-inducible factor 1 alpha
-
Iyer N.V., Kotch L.E., Agani F., Leung S.W., Laughner E., Wenger R.H., Gassmann M., Gearhart J.D., Lawler A.M., Yu A.Y., Semenza G.L. Cellular and developmental control of O2 homeostasis by hypoxia-inducible factor 1 alpha. Genes Dev. 1998, 12:149-162.
-
(1998)
Genes Dev.
, vol.12
, pp. 149-162
-
-
Iyer, N.V.1
Kotch, L.E.2
Agani, F.3
Leung, S.W.4
Laughner, E.5
Wenger, R.H.6
Gassmann, M.7
Gearhart, J.D.8
Lawler, A.M.9
Yu, A.Y.10
Semenza, G.L.11
-
43
-
-
20844435467
-
The NF1 tumor suppressor critically regulates TSC2 and mTOR
-
Johannessen C.M., Reczek E.E., James M.F., Brems H., Legius E., Cichowski K. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc. Natl. Acad. Sci. USA 2005, 102:8573-8578.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 8573-8578
-
-
Johannessen, C.M.1
Reczek, E.E.2
James, M.F.3
Brems, H.4
Legius, E.5
Cichowski, K.6
-
44
-
-
43649093915
-
Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway
-
Kaelin W.G., Ratcliffe P.J. Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway. Mol. Cell 2008, 30:393-402.
-
(2008)
Mol. Cell
, vol.30
, pp. 393-402
-
-
Kaelin, W.G.1
Ratcliffe, P.J.2
-
45
-
-
84874117442
-
An update on the genetics of pheochromocytoma
-
Karasek D., Shah U., Frysak Z., Stratakis C., Pacak K. An update on the genetics of pheochromocytoma. J. Hum. Hypertens. 2013, 27:141-147.
-
(2013)
J. Hum. Hypertens.
, vol.27
, pp. 141-147
-
-
Karasek, D.1
Shah, U.2
Frysak, Z.3
Stratakis, C.4
Pacak, K.5
-
46
-
-
33746930794
-
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer
-
King A., Selak M.A., Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene 2006, 25:4675-4682.
-
(2006)
Oncogene
, vol.25
, pp. 4675-4682
-
-
King, A.1
Selak, M.A.2
Gottlieb, E.3
-
47
-
-
76149138016
-
The use of functional imaging in a patient with head and neck paragangliomas
-
King K.S., Whatley M.A., Alexopoulos D.K., Reynolds J.C., Chen C.C., Mattox D.E., Jacobs S., Pacak K. The use of functional imaging in a patient with head and neck paragangliomas. J. Clin. Endocrinol. Metab. 2010, 95:481-482.
-
(2010)
J. Clin. Endocrinol. Metab.
, vol.95
, pp. 481-482
-
-
King, K.S.1
Whatley, M.A.2
Alexopoulos, D.K.3
Reynolds, J.C.4
Chen, C.C.5
Mattox, D.E.6
Jacobs, S.7
Pacak, K.8
-
48
-
-
80755127100
-
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations
-
King K.S., Prodanov T., Kantorovich V., Fojo T., Hewitt J.K., Zacharin M., Wesley R., Lodish M., Raygada M., Gimenez-Roqueplo A.P., McCormack S., Eisenhofer G., Milosevic D., Kebebew E., Stratakis C.A., Pacak K. Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J. Clin. Oncol. 2011, 29:4137-4142.
-
(2011)
J. Clin. Oncol.
, vol.29
, pp. 4137-4142
-
-
King, K.S.1
Prodanov, T.2
Kantorovich, V.3
Fojo, T.4
Hewitt, J.K.5
Zacharin, M.6
Wesley, R.7
Lodish, M.8
Raygada, M.9
Gimenez-Roqueplo, A.P.10
McCormack, S.11
Eisenhofer, G.12
Milosevic, D.13
Kebebew, E.14
Stratakis, C.A.15
Pacak, K.16
-
49
-
-
67749130797
-
Medullary thyroid cancer: management guidelines of the American Thyroid Association
-
Kloos R.T., Eng C., Evans D.B., Francis G.L., Gagel R.F., Gharib H., Moley J.F., Pacini F., Ringel M.D., Schlumberger M., Wells S.A. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009, 19:565-612.
-
(2009)
Thyroid
, vol.19
, pp. 565-612
-
-
Kloos, R.T.1
Eng, C.2
Evans, D.B.3
Francis, G.L.4
Gagel, R.F.5
Gharib, H.6
Moley, J.F.7
Pacini, F.8
Ringel, M.D.9
Schlumberger, M.10
Wells, S.A.11
-
50
-
-
80052540617
-
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
-
E1472-6
-
Korpershoek E., Favier J., Gaal J., Burnichon N., van Gessel B., Oudijk L., Badoual C., Gadessaud N., Venisse A., Bayley J.P., van Dooren M.F., de Herder W.W., Tissier F., Plouin P.F., van Nederveen F.H., Dinjens W.N., Gimenez-Roqueplo A.P., de Krijger R.R. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J. Clin. Endocrinol. Metab. 2011, 96. E1472-6.
-
(2011)
J. Clin. Endocrinol. Metab.
, vol.96
-
-
Korpershoek, E.1
Favier, J.2
Gaal, J.3
Burnichon, N.4
van Gessel, B.5
Oudijk, L.6
Badoual, C.7
Gadessaud, N.8
Venisse, A.9
Bayley, J.P.10
van Dooren, M.F.11
de Herder, W.W.12
Tissier, F.13
Plouin, P.F.14
van Nederveen, F.H.15
Dinjens, W.N.16
Gimenez-Roqueplo, A.P.17
de Krijger, R.R.18
-
51
-
-
79251468798
-
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
-
Kunst H.P., Rutten M.H., de Monnink J.P., Hoefsloot L.H., Timmers H.J., Marres H.A., Jansen J.C., Kremer H., Bayley J.P., Cremers C.W. SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin. Cancer Res. 2011, 17:247-254.
-
(2011)
Clin. Cancer Res.
, vol.17
, pp. 247-254
-
-
Kunst, H.P.1
Rutten, M.H.2
de Monnink, J.P.3
Hoefsloot, L.H.4
Timmers, H.J.5
Marres, H.A.6
Jansen, J.C.7
Kremer, H.8
Bayley, J.P.9
Cremers, C.W.10
-
52
-
-
58049215232
-
PHD2 mutation and congenital erythrocytosis with paraganglioma
-
Ladroue C., Carcenac R., Leporrier M., Gad S., Le Hello C., Galateau-Salle F., Feunteun J., Pouyssegur J., Richard S., Gardie B. PHD2 mutation and congenital erythrocytosis with paraganglioma. N. Engl. J. Med. 2008, 359:2685-2692.
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 2685-2692
-
-
Ladroue, C.1
Carcenac, R.2
Leporrier, M.3
Gad, S.4
Le Hello, C.5
Galateau-Salle, F.6
Feunteun, J.7
Pouyssegur, J.8
Richard, S.9
Gardie, B.10
-
53
-
-
71649113569
-
Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization
-
Lee J., Wang J., Torbenson M., Lu Y., Liu Q.Z., Li S. Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization. Cancer Genet. Cytogenet. 2010, 196:179-183.
-
(2010)
Cancer Genet. Cytogenet.
, vol.196
, pp. 179-183
-
-
Lee, J.1
Wang, J.2
Torbenson, M.3
Lu, Y.4
Liu, Q.Z.5
Li, S.6
-
54
-
-
23844520735
-
Phaeochromocytoma
-
Lenders J.W., Eisenhofer G., Mannelli M., Pacak K. Phaeochromocytoma. Lancet 2005, 366:665-675.
-
(2005)
Lancet
, vol.366
, pp. 665-675
-
-
Lenders, J.W.1
Eisenhofer, G.2
Mannelli, M.3
Pacak, K.4
-
55
-
-
0037709883
-
Von Hippel-Lindau disease
-
Lonser R.R., Glenn G.M., Walther M., Chew E.Y., Libutti S.K., Linehan W.M., Oldfield E.H. Von Hippel-Lindau disease. Lancet 2003, 361:2059-2067.
-
(2003)
Lancet
, vol.361
, pp. 2059-2067
-
-
Lonser, R.R.1
Glenn, G.M.2
Walther, M.3
Chew, E.Y.4
Libutti, S.K.5
Linehan, W.M.6
Oldfield, E.H.7
-
56
-
-
78649404935
-
Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
-
Lopez-Jimenez E., Gomez-Lopez G., Leandro-Garcia L.J., Munoz I., Schiavi F., Montero-Conde C., de Cubas A.A., Ramires R., Landa I., Leskela S., Maliszewska A., Inglada-Perez L., de la Vega L., Rodriguez-Antona C., Leton R., Bernal C., de Campos J.M., Diez-Tascon C., Fraga M.F., Boullosa C., Pisano D.G., Opocher G., Robledo M., Cascon A. Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol. Endocrinol. 2010, 24:2382-2391.
-
(2010)
Mol. Endocrinol.
, vol.24
, pp. 2382-2391
-
-
Lopez-Jimenez, E.1
Gomez-Lopez, G.2
Leandro-Garcia, L.J.3
Munoz, I.4
Schiavi, F.5
Montero-Conde, C.6
de Cubas, A.A.7
Ramires, R.8
Landa, I.9
Leskela, S.10
Maliszewska, A.11
Inglada-Perez, L.12
de la Vega, L.13
Rodriguez-Antona, C.14
Leton, R.15
Bernal, C.16
de Campos, J.M.17
Diez-Tascon, C.18
Fraga, M.F.19
Boullosa, C.20
Pisano, D.G.21
Opocher, G.22
Robledo, M.23
Cascon, A.24
more..
-
57
-
-
84879606718
-
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
-
Lorenzo F.R., Yang C., Fui M.Ng Tang, Vankayalapati H., Zhuang Z., Huynh T., Grossmann M., Pacak K., Prchal J.T. 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
Fui, M.N.T.3
Vankayalapati, H.4
Zhuang, Z.5
Huynh, T.6
Grossmann, M.7
Pacak, K.8
Prchal, J.T.9
-
58
-
-
0025000210
-
Clinical features and natural history of von Hippel-Lindau disease
-
Maher E.R., Yates J.R., Harries R., Benjamin C., Harris R., Moore A.T., Ferguson-Smith M.A. Clinical features and natural history of von Hippel-Lindau disease. Q. J. Med. 1990, 77:1151-1163.
-
(1990)
Q. J. Med.
, vol.77
, pp. 1151-1163
-
-
Maher, E.R.1
Yates, J.R.2
Harries, R.3
Benjamin, C.4
Harris, R.5
Moore, A.T.6
Ferguson-Smith, M.A.7
-
59
-
-
79956317112
-
Von Hippel-Lindau disease: a clinical and scientific review
-
Maher E.R., Neumann H.P., Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur. J. Hum. Genet. 2011, 19:617-623.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 617-623
-
-
Maher, E.R.1
Neumann, H.P.2
Richard, S.3
-
60
-
-
66149098136
-
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
-
Mannelli M., Castellano M., Schiavi F., Filetti S., Giacche M., Mori L., Pignataro V., Bernini G., Giache V., Bacca A., Biondi B., Corona G., Di Trapani G., Grossrubatscher E., Reimondo G., Arnaldi G., Giacchetti G., Veglio F., Loli P., Colao A., Ambrosio M.R., Terzolo M., Letizia C., Ercolino T., Opocher G. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J. Clin. Endocrinol. Metab. 2009, 94:1541-1547.
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, pp. 1541-1547
-
-
Mannelli, M.1
Castellano, M.2
Schiavi, F.3
Filetti, S.4
Giacche, M.5
Mori, L.6
Pignataro, V.7
Bernini, G.8
Giache, V.9
Bacca, A.10
Biondi, B.11
Corona, G.12
Di Trapani, G.13
Grossrubatscher, E.14
Reimondo, G.15
Arnaldi, G.16
Giacchetti, G.17
Veglio, F.18
Loli, P.19
Colao, A.20
Ambrosio, M.R.21
Terzolo, M.22
Letizia, C.23
Ercolino, T.24
Opocher, G.25
more..
-
61
-
-
33845497241
-
Anatomical and functional imaging of tumors in animal models: focus on pheochromocytoma
-
Martiniova L., Ohta S., Guion P., Schimel D., Lai E.W., Klaunberg B., Jagoda E., Pacak K. Anatomical and functional imaging of tumors in animal models: focus on pheochromocytoma. Ann. N. Y. Acad. Sci. 2006, 1073:392-404.
-
(2006)
Ann. N. Y. Acad. Sci.
, vol.1073
, pp. 392-404
-
-
Martiniova, L.1
Ohta, S.2
Guion, P.3
Schimel, D.4
Lai, E.W.5
Klaunberg, B.6
Jagoda, E.7
Pacak, K.8
-
62
-
-
61449213031
-
Characterization of an animal model of aggressive metastatic pheochromocytoma linked to a specific gene signature
-
Martiniova L., Lai E.W., Elkahloun A.G., Abu-Asab M., Wickremasinghe A., Solis D.C., Perera S.M., Huynh T.T., Lubensky I.A., Tischler A.S., Kvetnansky R., Alesci S., Morris J.C., Pacak K. Characterization of an animal model of aggressive metastatic pheochromocytoma linked to a specific gene signature. Clin. Exp. Metastasis 2009, 26:239-250.
-
(2009)
Clin. Exp. Metastasis
, vol.26
, pp. 239-250
-
-
Martiniova, L.1
Lai, E.W.2
Elkahloun, A.G.3
Abu-Asab, M.4
Wickremasinghe, A.5
Solis, D.C.6
Perera, S.M.7
Huynh, T.T.8
Lubensky, I.A.9
Tischler, A.S.10
Kvetnansky, R.11
Alesci, S.12
Morris, J.C.13
Pacak, K.14
-
63
-
-
79251514664
-
Increased uptake of [(1)(2)(3)I]meta-iodobenzylguanidine, [(1)F]fluorodopamine, and [(3)H]norepinephrine in mouse pheochromocytoma cells and tumors after treatment with the histone deacetylase inhibitors
-
Martiniova L., Perera S.M., Brouwers F.M., Alesci S., Abu-Asab M., Marvelle A.F., Kiesewetter D.O., Thomasson D., Morris J.C., Kvetnansky R., Tischler A.S., Reynolds J.C., Fojo A.T., Pacak K. Increased uptake of [(1)(2)(3)I]meta-iodobenzylguanidine, [(1)F]fluorodopamine, and [(3)H]norepinephrine in mouse pheochromocytoma cells and tumors after treatment with the histone deacetylase inhibitors. Endocr. Relat. Cancer 2011, 18:143-157.
-
(2011)
Endocr. Relat. Cancer
, vol.18
, pp. 143-157
-
-
Martiniova, L.1
Perera, S.M.2
Brouwers, F.M.3
Alesci, S.4
Abu-Asab, M.5
Marvelle, A.F.6
Kiesewetter, D.O.7
Thomasson, D.8
Morris, J.C.9
Kvetnansky, R.10
Tischler, A.S.11
Reynolds, J.C.12
Fojo, A.T.13
Pacak, K.14
-
64
-
-
84856340250
-
Usefulness of [18F]-DA and [18F]-DOPA for PET imaging in a mouse model of pheochromocytoma
-
Martiniova L., Cleary S., Lai E.W., Kiesewetter D.O., Seidel J., Dawson L.F., Phillips J.K., Thomasson D., Chen X., Eisenhofer G., Powers J.F., Kvetnansky R., Pacak K. Usefulness of [18F]-DA and [18F]-DOPA for PET imaging in a mouse model of pheochromocytoma. Nucl. Med. Biol. 2012, 39:215-226.
-
(2012)
Nucl. Med. Biol.
, vol.39
, pp. 215-226
-
-
Martiniova, L.1
Cleary, S.2
Lai, E.W.3
Kiesewetter, D.O.4
Seidel, J.5
Dawson, L.F.6
Phillips, J.K.7
Thomasson, D.8
Chen, X.9
Eisenhofer, G.10
Powers, J.F.11
Kvetnansky, R.12
Pacak, K.13
-
65
-
-
0033587146
-
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
-
Maxwell P.H., Wiesener M.S., Chang G.W., Clifford S.C., Vaux E.C., Cockman M.E., Wykoff C.C., Pugh C.W., Maher E.R., Ratcliffe P.J. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999, 399:271-275.
-
(1999)
Nature
, vol.399
, pp. 271-275
-
-
Maxwell, P.H.1
Wiesener, M.S.2
Chang, G.W.3
Clifford, S.C.4
Vaux, E.C.5
Cockman, M.E.6
Wykoff, C.C.7
Pugh, C.W.8
Maher, E.R.9
Ratcliffe, P.J.10
-
66
-
-
0037035851
-
Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling
-
Min J.H., Yang H., Ivan M., Gertler F., Kaelin W.G., Pavletich N.P. Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. Science 2002, 296:1886-1889.
-
(2002)
Science
, vol.296
, pp. 1886-1889
-
-
Min, J.H.1
Yang, H.2
Ivan, M.3
Gertler, F.4
Kaelin, W.G.5
Pavletich, N.P.6
-
67
-
-
33846537919
-
Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2
-
Moore S.W., Appfelstaedt J., Zaahl M.G. Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2. J. Pediatr. Surg. 2007, 42:326-332.
-
(2007)
J. Pediatr. Surg.
, vol.42
, pp. 326-332
-
-
Moore, S.W.1
Appfelstaedt, J.2
Zaahl, M.G.3
-
68
-
-
19944367296
-
SDHC mutations in hereditary paraganglioma/pheochromocytoma
-
Muller U., Troidl C., Niemann S. SDHC mutations in hereditary paraganglioma/pheochromocytoma. Fam. Cancer 2005, 4:9-12.
-
(2005)
Fam. Cancer
, vol.4
, pp. 9-12
-
-
Muller, U.1
Troidl, C.2
Niemann, S.3
-
69
-
-
0024154605
-
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis
-
Bethesda, Md., USA, July 13-15, 1987
-
1988. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987, Neurofibromatosis. 1, 172-8.
-
(1988)
Neurofibromatosis.
, vol.1
, pp. 172-8
-
-
-
70
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
Neumann H.P., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292:943-951.
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.1
Pawlu, C.2
Peczkowska, M.3
Bausch, B.4
McWhinney, S.R.5
Muresan, M.6
Buchta, M.7
Franke, G.8
Klisch, J.9
Bley, T.A.10
Hoegerle, S.11
Boedeker, C.C.12
Opocher, G.13
Schipper, J.14
Januszewicz, A.15
Eng, C.16
-
71
-
-
79961228236
-
Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
-
E1279-82
-
Neumann H.P., Sullivan M., Winter A., Malinoc A., Hoffmann M.M., Boedeker C.C., Bertz H., Walz M.K., Moeller L.C., Schmid K.W., Eng C. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J. Clin. Endocrinol. Metab. 2011, 96. E1279-82.
-
(2011)
J. Clin. Endocrinol. Metab.
, vol.96
-
-
Neumann, H.P.1
Sullivan, M.2
Winter, A.3
Malinoc, A.4
Hoffmann, M.M.5
Boedeker, C.C.6
Bertz, H.7
Walz, M.K.8
Moeller, L.C.9
Schmid, K.W.10
Eng, C.11
-
72
-
-
69149093162
-
Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome
-
Pacak K., Eisenhofer G., Ilias I. Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome. Hormones (Athens) 2009, 8:111-116.
-
(2009)
Hormones (Athens)
, vol.8
, pp. 111-116
-
-
Pacak, K.1
Eisenhofer, G.2
Ilias, I.3
-
73
-
-
84879204302
-
New syndrome of paraganglioma and somatostatinoma associated with polycythemia
-
Pacak K., Jochmanova I., Prodanov T., Yang C., Merino M.J., Fojo T., Prchal J.T., Tischler A.S., Lechan R.M., Zhuang Z. New syndrome of paraganglioma and somatostatinoma associated with polycythemia. J. Clin. Oncol. 2013.
-
(2013)
J. Clin. Oncol.
-
-
Pacak, K.1
Jochmanova, I.2
Prodanov, T.3
Yang, C.4
Merino, M.J.5
Fojo, T.6
Prchal, J.T.7
Tischler, A.S.8
Lechan, R.M.9
Zhuang, Z.10
-
74
-
-
37349074531
-
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
-
Pasini B., McWhinney S.R., Bei T., Matyakhina L., Stergiopoulos S., Muchow M., Boikos S.A., Ferrando B., Pacak K., Assie G., Baudin E., Chompret A., Ellison J.W., Briere J.J., Rustin P., Gimenez-Roqueplo A.P., Eng C., Carney J.A., Stratakis C.A. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur. J. Hum. Genet. 2008, 16:79-88.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 79-88
-
-
Pasini, B.1
McWhinney, S.R.2
Bei, T.3
Matyakhina, L.4
Stergiopoulos, S.5
Muchow, M.6
Boikos, S.A.7
Ferrando, B.8
Pacak, K.9
Assie, G.10
Baudin, E.11
Chompret, A.12
Ellison, J.W.13
Briere, J.J.14
Rustin, P.15
Gimenez-Roqueplo, A.P.16
Eng, C.17
Carney, J.A.18
Stratakis, C.A.19
-
75
-
-
84887474497
-
Testing new susceptibility genes in the cohort of apparently sporadic pheochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes
-
Peczkowska M., Kowalska A., Sygut J., Waligorski D., Malinoc A., Janaszek-Sitkowska H., Prejbisz A., Januszewicz A., Neumann H.P. Testing new susceptibility genes in the cohort of apparently sporadic pheochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clin. Endocrinol. 2013.
-
(2013)
Clin. Endocrinol.
-
-
Peczkowska, M.1
Kowalska, A.2
Sygut, J.3
Waligorski, D.4
Malinoc, A.5
Janaszek-Sitkowska, H.6
Prejbisz, A.7
Januszewicz, A.8
Neumann, H.P.9
-
76
-
-
0033674787
-
Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice
-
Powers J.F., Evinger M.J., Tsokas P., Bedri S., Alroy J., Shahsavari M., Tischler A.S. Pheochromocytoma cell lines from heterozygous neurofibromatosis knockout mice. Cell Tissue Res. 2000, 302:309-320.
-
(2000)
Cell Tissue Res.
, vol.302
, pp. 309-320
-
-
Powers, J.F.1
Evinger, M.J.2
Tsokas, P.3
Bedri, S.4
Alroy, J.5
Shahsavari, M.6
Tischler, A.S.7
-
77
-
-
77649175595
-
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
-
Qin Y., Yao L., King E.E., Buddavarapu K., Lenci R.E., Chocron E.S., Lechleiter J.D., Sass M., Aronin N., Schiavi F., Boaretto F., Opocher G., Toledo R.A., Toledo S.P., Stiles C., Aguiar R.C., Dahia P.L. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat. Genet. 2010, 42:229-233.
-
(2010)
Nat. Genet.
, vol.42
, pp. 229-233
-
-
Qin, Y.1
Yao, L.2
King, E.E.3
Buddavarapu, K.4
Lenci, R.E.5
Chocron, E.S.6
Lechleiter, J.D.7
Sass, M.8
Aronin, N.9
Schiavi, F.10
Boaretto, F.11
Opocher, G.12
Toledo, R.A.13
Toledo, S.P.14
Stiles, C.15
Aguiar, R.C.16
Dahia, P.L.17
-
78
-
-
0025762426
-
Neurofibromatosis: past, present, and future
-
Riccardi V.M. Neurofibromatosis: past, present, and future. N. Engl. J. Med. 1991, 324:1283-1285.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1283-1285
-
-
Riccardi, V.M.1
-
79
-
-
51749113159
-
Germline SDHB mutations and familial renal cell carcinoma
-
Ricketts C., Woodward E.R., Killick P., Morris M.R., Astuti D., Latif F., Maher E.R. Germline SDHB mutations and familial renal cell carcinoma. J. Natl. Cancer Inst. 2008, 100:1260-1262.
-
(2008)
J. Natl. Cancer Inst.
, vol.100
, pp. 1260-1262
-
-
Ricketts, C.1
Woodward, E.R.2
Killick, P.3
Morris, M.R.4
Astuti, D.5
Latif, F.6
Maher, E.R.7
-
80
-
-
74049144943
-
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
-
Ricketts C.J., Forman J.R., Rattenberry E., Bradshaw N., Lalloo F., Izatt L., Cole T.R., Armstrong R., Kumar V.K., Morrison P.J., Atkinson A.B., Douglas F., Ball S.G., Cook J., Srirangalingam U., Killick P., Kirby G., Aylwin S., Woodward E.R., Evans D.G., Hodgson S.V., Murday V., Chew S.L., Connell J.M., Blundell T.L., Macdonald F., Maher E.R. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum. Mutat. 2010, 31:41-51.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 41-51
-
-
Ricketts, C.J.1
Forman, J.R.2
Rattenberry, E.3
Bradshaw, N.4
Lalloo, F.5
Izatt, L.6
Cole, T.R.7
Armstrong, R.8
Kumar, V.K.9
Morrison, P.J.10
Atkinson, A.B.11
Douglas, F.12
Ball, S.G.13
Cook, J.14
Srirangalingam, U.15
Killick, P.16
Kirby, G.17
Aylwin, S.18
Woodward, E.R.19
Evans, D.G.20
Hodgson, S.V.21
Murday, V.22
Chew, S.L.23
Connell, J.M.24
Blundell, T.L.25
Macdonald, F.26
Maher, E.R.27
more..
-
81
-
-
0028914683
-
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
-
Santoro M., Carlomagno F., Romano A., Bottaro D.P., Dathan N.A., Grieco M., Fusco A., Vecchio G., Matoskova B., Kraus M.H., et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 1995, 267:381-383.
-
(1995)
Science
, vol.267
, pp. 381-383
-
-
Santoro, M.1
Carlomagno, F.2
Romano, A.3
Bottaro, D.P.4
Dathan, N.A.5
Grieco, M.6
Fusco, A.7
Vecchio, G.8
Matoskova, B.9
Kraus, M.H.10
-
82
-
-
27244446452
-
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
-
Schiavi F., Boedeker C.C., Bausch B., Peczkowska M., Gomez C.F., Strassburg T., Pawlu C., Buchta M., Salzmann M., Hoffmann M.M., Berlis A., Brink I., Cybulla M., Muresan M., Walter M.A., Forrer F., Valimaki M., Kawecki A., Szutkowski Z., Schipper J., Walz M.K., Pigny P., Bauters C., Willet-Brozick J.E., Baysal B.E., Januszewicz A., Eng C., Opocher G., Neumann H.P. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005, 294:2057-2063.
-
(2005)
JAMA
, vol.294
, pp. 2057-2063
-
-
Schiavi, F.1
Boedeker, C.C.2
Bausch, B.3
Peczkowska, M.4
Gomez, C.F.5
Strassburg, T.6
Pawlu, C.7
Buchta, M.8
Salzmann, M.9
Hoffmann, M.M.10
Berlis, A.11
Brink, I.12
Cybulla, M.13
Muresan, M.14
Walter, M.A.15
Forrer, F.16
Valimaki, M.17
Kawecki, A.18
Szutkowski, Z.19
Schipper, J.20
Walz, M.K.21
Pigny, P.22
Bauters, C.23
Willet-Brozick, J.E.24
Baysal, B.E.25
Januszewicz, A.26
Eng, C.27
Opocher, G.28
Neumann, H.P.29
more..
-
83
-
-
66849135214
-
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications
-
Stratakis C.A., Carney J.A. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J. Intern. Med. 2009, 266:43-52.
-
(2009)
J. Intern. Med.
, vol.266
, pp. 43-52
-
-
Stratakis, C.A.1
Carney, J.A.2
-
84
-
-
84877696895
-
First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome
-
Taieb D., Yang C., Delenne B., Zhuang Z., Barlier A., Sebag F., Pacak K. First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome. J. Clin. Endocrinol. Metab. 2013.
-
(2013)
J. Clin. Endocrinol. Metab.
-
-
Taieb, D.1
Yang, C.2
Delenne, B.3
Zhuang, Z.4
Barlier, A.5
Sebag, F.6
Pacak, K.7
-
85
-
-
33947530604
-
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas
-
Timmers H.J., Kozupa A., Eisenhofer G., Raygada M., Adams K.T., Solis D., Lenders J.W., Pacak K. Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J. Clin. Endocrinol. Metab. 2007, 92:779-786.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 779-786
-
-
Timmers, H.J.1
Kozupa, A.2
Eisenhofer, G.3
Raygada, M.4
Adams, K.T.5
Solis, D.6
Lenders, J.W.7
Pacak, K.8
-
86
-
-
34250159501
-
Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma
-
Timmers H.J., Kozupa A., Chen C.C., Carrasquillo J.A., Ling A., Eisenhofer G., Adams K.T., Solis D., Lenders J.W., Pacak K. Superiority of fluorodeoxyglucose positron emission tomography to other functional imaging techniques in the evaluation of metastatic SDHB-associated pheochromocytoma and paraganglioma. J. Clin. Oncol. 2007, 25:2262-2269.
-
(2007)
J. Clin. Oncol.
, vol.25
, pp. 2262-2269
-
-
Timmers, H.J.1
Kozupa, A.2
Chen, C.C.3
Carrasquillo, J.A.4
Ling, A.5
Eisenhofer, G.6
Adams, K.T.7
Solis, D.8
Lenders, J.W.9
Pacak, K.10
-
87
-
-
67650501167
-
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma
-
Timmers H.J., Gimenez-Roqueplo A.P., Mannelli M., Pacak K. Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. Endocr. Relat. Cancer 2009, 16:391-400.
-
(2009)
Endocr. Relat. Cancer
, vol.16
, pp. 391-400
-
-
Timmers, H.J.1
Gimenez-Roqueplo, A.P.2
Mannelli, M.3
Pacak, K.4
-
88
-
-
84879468754
-
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
-
Toledo R.A., Qin Y., Srikantan S., Morales N.P., Li Q., Deng Y., Kim S., Pereira M.A., Toledo S.P., Su X., Aguiar R.C., Dahia P. In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas. Endocr. Relat. Cancer. 2013.
-
(2013)
Endocr. Relat. Cancer.
-
-
Toledo, R.A.1
Qin, Y.2
Srikantan, S.3
Morales, N.P.4
Li, Q.5
Deng, Y.6
Kim, S.7
Pereira, M.A.8
Toledo, S.P.9
Su, X.10
Aguiar, R.C.11
Dahia, P.12
-
89
-
-
0019993995
-
Genetic aspects of nonchromaffin paraganglioma
-
van Baars F., Cremers C., van den Broek P., Geerts S., Veldman J. Genetic aspects of nonchromaffin paraganglioma. Hum. Genet. 1982, 60:305-309.
-
(1982)
Hum. Genet.
, vol.60
, pp. 305-309
-
-
van Baars, F.1
Cremers, C.2
van den Broek, P.3
Geerts, S.4
Veldman, J.5
-
90
-
-
67651198212
-
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis
-
van Nederveen F.H., Gaal J., Favier J., Korpershoek E., Oldenburg R.A., de Bruyn E.M., Sleddens H.F., Derkx P., Riviere J., Dannenberg H., Petri B.J., Komminoth P., Pacak K., Hop W.C., Pollard P.J., Mannelli M., Bayley J.P., Perren A., Niemann S., Verhofstad A.A., de Bruine A.P., Maher E.R., Tissier F., Meatchi T., Badoual C., Bertherat J., Amar L., Alataki D., Van Marck E., Ferrau F., Francois J., de Herder W.W., Peeters M.P., van Linge A., Lenders J.W., Gimenez-Roqueplo A.P., de Krijger R.R., Dinjens W.N. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol. 2009, 10:764-771.
-
(2009)
Lancet Oncol.
, vol.10
, pp. 764-771
-
-
van Nederveen, F.H.1
Gaal, J.2
Favier, J.3
Korpershoek, E.4
Oldenburg, R.A.5
de Bruyn, E.M.6
Sleddens, H.F.7
Derkx, P.8
Riviere, J.9
Dannenberg, H.10
Petri, B.J.11
Komminoth, P.12
Pacak, K.13
Hop, W.C.14
Pollard, P.J.15
Mannelli, M.16
Bayley, J.P.17
Perren, A.18
Niemann, S.19
Verhofstad, A.A.20
de Bruine, A.P.21
Maher, E.R.22
Tissier, F.23
Meatchi, T.24
Badoual, C.25
Bertherat, J.26
Amar, L.27
Alataki, D.28
Van Marck, E.29
Ferrau, F.30
Francois, J.31
de Herder, W.W.32
Peeters, M.P.33
van Linge, A.34
Lenders, J.W.35
Gimenez-Roqueplo, A.P.36
de Krijger, R.R.37
Dinjens, W.N.38
more..
-
91
-
-
0032825694
-
Von Recklinghausen's disease and pheochromocytomas
-
Walther M.M., Herring J., Enquist E., Keiser H.R., Linehan W.M. Von Recklinghausen's disease and pheochromocytomas. J. Urol. 1999, 162:1582-1586.
-
(1999)
J. Urol.
, vol.162
, pp. 1582-1586
-
-
Walther, M.M.1
Herring, J.2
Enquist, E.3
Keiser, H.R.4
Linehan, W.M.5
-
92
-
-
0029051439
-
Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension
-
Wang G.L., Jiang B.H., Rue E.A., Semenza G.L. Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension. Proc. Natl. Acad. Sci. USA 1995, 92:5510-5514.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 5510-5514
-
-
Wang, G.L.1
Jiang, B.H.2
Rue, E.A.3
Semenza, G.L.4
-
93
-
-
0017189787
-
Mitochondrial abnormalities in human phaeochromocytoma
-
Watanabe H., Burnstock G., Jarrott B., Louis W.J. Mitochondrial abnormalities in human phaeochromocytoma. Cell Tissue Res. 1976, 172:281-288.
-
(1976)
Cell Tissue Res.
, vol.172
, pp. 281-288
-
-
Watanabe, H.1
Burnstock, G.2
Jarrott, B.3
Louis, W.J.4
-
94
-
-
77956581017
-
Multiple endocrine neoplasia type 2
-
Wohllk N., Schweizer H., Erlic Z., Schmid K.W., Walz M.K., Raue F., Neumann H.P. Multiple endocrine neoplasia type 2. Best Pract. Res. Clin. Endocrinol. Metab. 2010, 24:371-387.
-
(2010)
Best Pract. Res. Clin. Endocrinol. Metab.
, vol.24
, pp. 371-387
-
-
Wohllk, N.1
Schweizer, H.2
Erlic, Z.3
Schmid, K.W.4
Walz, M.K.5
Raue, F.6
Neumann, H.P.7
-
95
-
-
78650200503
-
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
-
Yao L., Schiavi F., Cascon A., Qin Y., Inglada-Perez L., King E.E., Toledo R.A., Ercolino T., Rapizzi E., Ricketts C.J., Mori L., Giacche M., Mendola A., Taschin E., Boaretto F., Loli P., Iacobone M., Rossi G.P., Biondi B., Lima-Junior J.V., Kater C.E., Bex M., Vikkula M., Grossman A.B., Gruber S.B., Barontini M., Persu A., Castellano M., Toledo S.P., Maher E.R., Mannelli M., Opocher G., Robledo M., Dahia P.L. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 2010, 304:2611-2619.
-
(2010)
JAMA
, vol.304
, pp. 2611-2619
-
-
Yao, L.1
Schiavi, F.2
Cascon, A.3
Qin, Y.4
Inglada-Perez, L.5
King, E.E.6
Toledo, R.A.7
Ercolino, T.8
Rapizzi, E.9
Ricketts, C.J.10
Mori, L.11
Giacche, M.12
Mendola, A.13
Taschin, E.14
Boaretto, F.15
Loli, P.16
Iacobone, M.17
Rossi, G.P.18
Biondi, B.19
Lima-Junior, J.V.20
Kater, C.E.21
Bex, M.22
Vikkula, M.23
Grossman, A.B.24
Gruber, S.B.25
Barontini, M.26
Persu, A.27
Castellano, M.28
Toledo, S.P.29
Maher, E.R.30
Mannelli, M.31
Opocher, G.32
Robledo, M.33
Dahia, P.L.34
more..
-
96
-
-
84865694593
-
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia
-
Zhuang Z., Yang C., Lorenzo F., Merino M., Fojo T., Kebebew E., Popovic V., Stratakis C.A., Prchal J.T., Pacak K. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N. Engl. J. Med. 2012, 367:922-930.
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 922-930
-
-
Zhuang, Z.1
Yang, C.2
Lorenzo, F.3
Merino, M.4
Fojo, T.5
Kebebew, E.6
Popovic, V.7
Stratakis, C.A.8
Prchal, J.T.9
Pacak, K.10
-
97
-
-
0030960182
-
Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population
-
Zoller M.E., Rembeck B., Oden A., Samuelsson M., Angervall L. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997, 79:2125-2131.
-
(1997)
Cancer
, vol.79
, pp. 2125-2131
-
-
Zoller, M.E.1
Rembeck, B.2
Oden, A.3
Samuelsson, M.4
Angervall, L.5
|