-
1
-
-
33644834491
-
Genetic testing in pheochromocytoma or functional paraganglioma
-
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de PB, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005;23:8812-18.
-
(2005)
J Clin Oncol
, vol.23
, pp. 8812-8818
-
-
Amar, L.1
Bertherat, J.2
Baudin, E.3
Ajzenberg, C.4
Bressac-de, P.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..
-
2
-
-
16544392925
-
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features
-
Badenhop RF, Jansen JC, Fagan PA, Lord RS, Wang ZG, Foster WJ, Schofield PR. The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. J Med Genet 2004;41:e99.
-
(2004)
J Med Genet
, vol.41
-
-
Badenhop, R.F.1
Jansen, J.C.2
Fagan, P.A.3
Lord, R.S.4
Wang, Z.G.5
Foster, W.J.6
Schofield, P.R.7
-
3
-
-
70449100913
-
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome
-
Gaal J, van Nederveen FH, Erlic Z, Korpershoek E, Oldenburg R, Boedeker CC, Kontny U, Neumann HP, Dinjens WN, de Krijger RR. Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. J Clin Endocrinol Metab 2009;94:4367-71.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4367-4371
-
-
Gaal, J.1
van Nederveen, F.H.2
Erlic, Z.3
Korpershoek, E.4
Oldenburg, R.5
Boedeker, C.C.6
Kontny, U.7
Neumann, H.P.8
Dinjens, W.N.9
de Krijger, R.R.10
-
4
-
-
79251468798
-
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
-
Kunst HP, Rutten MH, de Monnink JP, Hoefsloot LH, Timmers HJ, Marres HA, Jansen JC, Kremer H, Bayley JP, Cremers CW. SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin Cancer Res 2011;17:247-54.
-
(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
-
5
-
-
0027508442
-
Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease
-
Neumann HP, Berger DP, Sigmund G, Blum U, Schmidt D, Parmer RJ, Volk B, Kirste G. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med 1993;329:1531-8.
-
(1993)
N Engl J Med
, vol.329
, pp. 1531-1538
-
-
Neumann, H.P.1
Berger, D.P.2
Sigmund, G.3
Blum, U.4
Schmidt, D.5
Parmer, R.J.6
Volk, B.7
Kirste, G.8
-
6
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma 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
Dahia, P.L.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
7
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey AG, Taschner PE, Rubinstein WS, Myers EN, Richard CW III, Cornelisse CJ, Devilee P, Devlin B. Mutations in 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
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
van der Mey, A.G.7
Taschner, P.E.8
Rubinstein, W.S.9
Myers, E.N.10
Richard III, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
8
-
-
77958164441
-
SDHA is a tumor suppressor gene causing paraganglioma
-
Burnichon N, Briere JJ, Libe R, Vescovo L, Riviere J, Tissier F, Jouanno E, Jeunemaitre X, Benit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AJ. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010;19:3011-20.
-
(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.J.14
-
9
-
-
0141704510
-
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas
-
Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau van Kien P, Corvol P, Plouin PF, Jeunemaitre X. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 2003;63:5615-21.
-
(2003)
Cancer Res
, vol.63
, pp. 5615-5621
-
-
Gimenez-Roqueplo, A.P.1
Favier, J.2
Rustin, P.3
Rieubland, C.4
Crespin, M.5
Nau, V.6
Khau van Kien, P.7
Corvol, P.8
Plouin, P.F.9
Jeunemaitre, X.10
-
10
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26:268-70.
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
11
-
-
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 PF, Jeunemaitre X, Gimenez-Roqueplo AP. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009;94:2817-27.
-
(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..
-
12
-
-
80054737756
-
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients
-
Hensen EF, Siemers MD, Jansen JC, Corssmit EP, Romijn JA, Tops CM, van der Mey AG, Devilee P, Cornelisse CJ, Bayley JP, Vriends AH. Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clin Endocrinol (Oxf) 2011;75:650-5.
-
(2011)
Clin Endocrinol (Oxf)
, 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
-
13
-
-
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 MR, 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;94:1541-7.
-
(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..
-
14
-
-
33644822473
-
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
-
Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006;91:827-36.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 827-836
-
-
Benn, D.E.1
Gimenez-Roqueplo, A.P.2
Reilly, J.R.3
Bertherat, J.4
Burgess, J.5
Byth, K.6
Croxson, M.7
Dahia, P.L.8
Elston, M.9
Gimm, O.10
Henley, D.11
Herman, P.12
Murday, V.13
Niccoli-Sire, P.14
Pasieka, J.L.15
Rohmer, V.16
Tucker, K.17
Jeunemaitre, X.18
Marsh, D.J.19
Plouin, P.F.20
Robinson, B.G.21
more..
-
15
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004;292:943-51.
-
(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
-
16
-
-
33947530604
-
Clinical presentations, biochemical phenotypes, and genotypephenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas
-
Timmers HJ, Kozupa A, Eisenhofer G, Raygada M, Adams KT, Solis D, Lenders JW, Pacak K. Clinical presentations, biochemical phenotypes, and genotypephenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 2007;92:779-86.
-
(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
-
17
-
-
84859766914
-
Head and neck paragangliomas: Report of 175 patients (1989-2010)
-
Papaspyrou K, Mewes T, Rossmann H, Fottner C, Schneider-Raetzke B, Bartsch O, Schreckenberger M, Lackner KJ, Amedee RG, Mann WJ. Head and neck paragangliomas: Report of 175 patients (1989-2010). Head Neck 2012;34:632-7.
-
(2012)
Head Neck
, vol.34
, pp. 632-637
-
-
Papaspyrou, K.1
Mewes, T.2
Rossmann, H.3
Fottner, C.4
Schneider-Raetzke, B.5
Bartsch, O.6
Schreckenberger, M.7
Lackner, K.J.8
Amedee, R.G.9
Mann, W.J.10
-
18
-
-
67650492401
-
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
-
Srirangalingam U, Khoo B, Walker L, Macdonald F, Skelly RH, George E, Spooner D, Johnston LB, Monson JP, Grossman AB, Drake WM, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours. Endocr Relat Cancer 2009;16:515-25.
-
(2009)
Endocr Relat Cancer
, vol.16
, pp. 515-525
-
-
Srirangalingam, U.1
Khoo, B.2
Walker, L.3
Macdonald, F.4
Skelly, R.H.5
George, E.6
Spooner, D.7
Johnston, L.B.8
Monson, J.P.9
Grossman, A.B.10
Drake, W.M.11
Akker, S.A.12
Pollard, P.J.13
Plowman, N.14
Avril, N.15
Berney, D.M.16
Burrin, J.M.17
Reznek, R.H.18
Kumar, V.K.19
Maher, E.R.20
Chew, S.L.21
more..
-
19
-
-
4944220064
-
Malignant pheochromocytoma: current status and initiatives for future progress
-
Eisenhofer G, Bornstein SR, Brouwers FM, Cheung NK, Dahia PL, de Krijger RR, Giordano TJ, Greene LA, Goldstein DS, Lehnert H, Manger WM, Maris JM, Neumann HP, Pacak K, Shulkin BL, Smith DI, Tischler AS, Young WF Jr. Malignant pheochromocytoma: current status and initiatives for future progress. Endocr Relat Cancer 2004;11:423-36.
-
(2004)
Endocr Relat Cancer
, vol.11
, pp. 423-436
-
-
Eisenhofer, G.1
Bornstein, S.R.2
Brouwers, F.M.3
Cheung, N.K.4
Dahia, P.L.5
de Krijger, R.R.6
Giordano, T.J.7
Greene, L.A.8
Goldstein, D.S.9
Lehnert, H.10
Manger, W.M.11
Maris, J.M.12
Neumann, H.P.13
Pacak, K.14
Shulkin, B.L.15
Smith, D.I.16
Tischler, A.S.17
Young Jr, W.F.18
-
20
-
-
0025054257
-
Histopathology of benign versus malignant sympathoadrenal paragangliomas: clinicopathologic study of 120 cases including unusual histologic features
-
Linnoila RI, Keiser HR, Steinberg SM, Lack EE. Histopathology of benign versus malignant sympathoadrenal paragangliomas: clinicopathologic study of 120 cases including unusual histologic features. Hum Pathol 1990;21:1168-80.
-
(1990)
Hum Pathol
, vol.21
, pp. 1168-1180
-
-
Linnoila, R.I.1
Keiser, H.R.2
Steinberg, S.M.3
Lack, E.E.4
-
21
-
-
0021363912
-
Malignant phaeochromocytoma: clinical, biochemical and scintigraphic characterization
-
Shapiro B, Sisson JC, Lloyd R, Nakajo M, Satterlee W, Beierwaltes WH. Malignant phaeochromocytoma: clinical, biochemical and scintigraphic characterization. Clin Endocrinol (Oxf) 1984;20:189-203.
-
(1984)
Clin Endocrinol (Oxf)
, vol.20
, pp. 189-203
-
-
Shapiro, B.1
Sisson, J.C.2
Lloyd, R.3
Nakajo, M.4
Satterlee, W.5
Beierwaltes, W.H.6
-
23
-
-
35649024173
-
Strengthening the Reporting of Observational Studies in Epidemiology (STROBE): explanation and elaboration
-
Vandenbroucke JP, von Elm E, Altman DG, Gotzsche PC, Mulrow CD, Pocock SJ, Poole C, Schlesselman JJ, Egger M. Strengthening the Reporting of Observational Studies in Epidemiology (STROBE): explanation and elaboration. Epidemiology 2007;18:805-35.
-
(2007)
Epidemiology
, vol.18
, pp. 805-835
-
-
Vandenbroucke, J.P.1
von Elm, E.2
Altman, D.G.3
Gotzsche, P.C.4
Mulrow, C.D.5
Pocock, S.J.6
Poole, C.7
Schlesselman, J.J.8
Egger, M.9
-
24
-
-
77953449767
-
Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management
-
Hermsen MA, Sevilla MaA, Llorente JL, Weiss MM, Grimbergen A, Allonca E, Garcia-Inclán C, Balbín M, Suárez C. Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. Cellular Oncol 2010;32:275-83.
-
(2010)
Cellular Oncol
, vol.32
, pp. 275-283
-
-
Hermsen, M.A.1
Sevilla, M.A.2
Llorente, J.L.3
Weiss, M.M.4
Grimbergen, A.5
Allonca, E.6
Garcia-Inclán, C.7
Balbín, M.8
Suárez, C.9
-
25
-
-
33845499765
-
Characteristics of pheochromocytoma in a 4- to 20-year-old population
-
Barontini M, Levin G, Sanso G. Characteristics of pheochromocytoma in a 4- to 20-year-old population. Ann N Y Acad Sci 2006;1073:30-7.
-
(2006)
Ann N Y Acad Sci
, vol.1073
, pp. 30-37
-
-
Barontini, M.1
Levin, G.2
Sanso, G.3
-
26
-
-
78650554400
-
Clinical Experiences of Pheochromocytoma in Korea
-
Kim KH, Chung JS, Kim WT, Oh CK, Chae YB, Yu HS, Ham WS, Choi YD. Clinical Experiences of Pheochromocytoma in Korea. Yonsei Med J 2011;52:45-50.
-
(2011)
Yonsei Med J
, vol.52
, pp. 45-50
-
-
Kim, K.H.1
Chung, J.S.2
Kim, W.T.3
Oh, C.K.4
Chae, Y.B.5
Yu, H.S.6
Ham, W.S.7
Choi, Y.D.8
-
27
-
-
0242643714
-
SDHD mutations in carotid body tumors and pheochromocytomas: Paraganglioma syndrome type 1
-
Bausch B, Munk R, Schipper J, Hoegerle S, Berger DP, Bohm N, Neumann HPM. SDHD mutations in carotid body tumors and pheochromocytomas: Paraganglioma syndrome type 1. Curr Opin Endocrinol Diabetes 2003;10:197-204.
-
(2003)
Curr Opin Endocrinol Diabetes
, vol.10
, pp. 197-204
-
-
Bausch, B.1
Munk, R.2
Schipper, J.3
Hoegerle, S.4
Berger, D.P.5
Bohm, N.6
Neumann, H.P.M.7
-
28
-
-
54049098899
-
Achievements of the COMETE program in the genetics of pheochromocytoma
-
Gimenez-Roqueplo AP, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin PF. [Achievements of the COMETE program in the genetics of pheochromocytoma]. Bull Acad Natl Med 2008;192:105-15.
-
(2008)
Bull Acad Natl Med
, vol.192
, pp. 105-115
-
-
Gimenez-Roqueplo, A.P.1
Burnichon, N.2
Amar, L.3
Favier, J.4
Jeunemaitre, X.5
Plouin, P.F.6
-
30
-
-
35348989206
-
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
-
Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, Bertagna X, Schlumberger M, Jeunemaitre X, Gimenez-Roqueplo AP, Plouin PF. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007;92:3822-8.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3822-3828
-
-
Amar, L.1
Baudin, E.2
Burnichon, N.3
Peyrard, S.4
Silvera, S.5
Bertherat, J.6
Bertagna, X.7
Schlumberger, M.8
Jeunemaitre, X.9
Gimenez-Roqueplo, A.P.10
Plouin, P.F.11
-
31
-
-
33751528825
-
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing
-
Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J Clin Endocrinol Metab 2006;91:4505-9.
-
(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
-
32
-
-
47049105416
-
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas
-
Klein RD, Jin L, Rumilla K, Young WF Jr, Lloyd RV. Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. Diagn Mol Pathol 2008;17:94-100.
-
(2008)
Diagn Mol Pathol
, vol.17
, pp. 94-100
-
-
Klein, R.D.1
Jin, L.2
Rumilla, K.3
Young Jr, W.F.4
Lloyd, R.V.5
-
33
-
-
54449085369
-
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium
-
Persu A, Hamoir M, Gregoire V, Garin P, Duvivier E, Reychler H, Chantrain G, Mortier G, Mourad M, Maiter D, Vikkula M. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. J Hypertens 2008;26:1395-1401.
-
(2008)
J Hypertens
, vol.26
, pp. 1395-1401
-
-
Persu, A.1
Hamoir, M.2
Gregoire, V.3
Garin, P.4
Duvivier, E.5
Reychler, H.6
Chantrain, G.7
Mortier, G.8
Mourad, M.9
Maiter, D.10
Vikkula, M.11
-
34
-
-
59449103665
-
Clinical features of paraganglioma syndromes
-
Boedeker CC, Neumann HP, Offergeld C, Maier W, Falcioni M, Berlis A, Schipper J. Clinical features of paraganglioma syndromes. Skull Base 2009;19:17-25.
-
(2009)
Skull Base
, vol.19
, pp. 17-25
-
-
Boedeker, C.C.1
Neumann, H.P.2
Offergeld, C.3
Maier, W.4
Falcioni, M.5
Berlis, A.6
Schipper, J.7
-
35
-
-
43349108023
-
Cervical paragangliomas: is SDH genetic analysis systematically required?
-
Fakhry N, Niccoli-Sire P, Barlier-Seti A, Giorgi R, Giovanni A, Zanaret M. Cervical paragangliomas: is SDH genetic analysis systematically required? Eur Arch Otorhinolaryngol 2008;265:557-63.
-
(2008)
Eur Arch Otorhinolaryngol
, vol.265
, pp. 557-563
-
-
Fakhry, N.1
Niccoli-Sire, P.2
Barlier-Seti, A.3
Giorgi, R.4
Giovanni, A.5
Zanaret, M.6
-
36
-
-
65549163172
-
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior
-
Ghayee HK, Havekes B, Corssmit EP, Eisenhofer G, Hammes SR, Ahmad Z, Tessnow A, Lazurova I, Adams KT, Fojo AT, Pacak K, Auchus RJ. Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. Endocr Relat Cancer 2009;16:291-9.
-
(2009)
Endocr Relat Cancer
, vol.16
, pp. 291-299
-
-
Ghayee, H.K.1
Havekes, B.2
Corssmit, E.P.3
Eisenhofer, G.4
Hammes, S.R.5
Ahmad, Z.6
Tessnow, A.7
Lazurova, I.8
Adams, K.T.9
Fojo, A.T.10
Pacak, K.11
Auchus, R.J.12
-
37
-
-
75749156991
-
Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival
-
Hammond PJ, Murphy D, Carachi R, Davidson DF, McIntosh D. Childhood phaeochromocytoma and paraganglioma: 100% incidence of genetic mutations and 100% survival. J Pediatr Surg 2010;45:383-6.
-
(2010)
J Pediatr Surg
, vol.45
, pp. 383-386
-
-
Hammond, P.J.1
Murphy, D.2
Carachi, R.3
Davidson, D.F.4
McIntosh, D.5
-
38
-
-
34347374074
-
Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas
-
Isobe K, Minowada S, Tatsuno I, Suzukawa K, Nissato S, Nanmoku T, Hara H, Yashiro T, Kawakami Y, Takekoshi K. Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. Horm Res 2007;68:68-71.
-
(2007)
Horm Res
, vol.68
, pp. 68-71
-
-
Isobe, K.1
Minowada, S.2
Tatsuno, I.3
Suzukawa, K.4
Nissato, S.5
Nanmoku, T.6
Hara, H.7
Yashiro, T.8
Kawakami, Y.9
Takekoshi, K.10
-
39
-
-
77950539414
-
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas
-
Krawczyk A, Hasse-Lazar K, Pawlaczek A, Szpak-Ulczok S, Krajewska J, Paliczka-Cieslak E, Jurecka-Lubieniecka B, Roskosz J, Chmielik E, Ziaja J, Cierpka L, Peczkowska M, Preibisz A, Januszewicz A, Otto M, Jarzab B. Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. Endokrynol Pol 2010;61:43-8.
-
(2010)
Endokrynol Pol
, vol.61
, pp. 43-48
-
-
Krawczyk, A.1
Hasse-Lazar, K.2
Pawlaczek, A.3
Szpak-Ulczok, S.4
Krajewska, J.5
Paliczka-Cieslak, E.6
Jurecka-Lubieniecka, B.7
Roskosz, J.8
Chmielik, E.9
Ziaja, J.10
Cierpka, L.11
Peczkowska, M.12
Preibisz, A.13
Januszewicz, A.14
Otto, M.15
Jarzab, B.16
-
40
-
-
10744224914
-
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas
-
Maier-Woelfle M, Brandle M, Komminoth P, Saremaslani P, Schmid S, Locher T, Heitz PU, Krull I, Galeazzi RL, Schmid C, Perren A. A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. J Clin Endocrinol Metab 2004;89:362-7.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 362-367
-
-
Maier-Woelfle, M.1
Brandle, M.2
Komminoth, P.3
Saremaslani, P.4
Schmid, S.5
Locher, T.6
Heitz, P.U.7
Krull, I.8
Galeazzi, R.L.9
Schmid, C.10
Perren, A.11
-
41
-
-
33749178250
-
Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations
-
Mora J, Cascon A, Robledo M, Catala A. Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. Pediatr Blood Cancer 2006;47:785-9.
-
(2006)
Pediatr Blood Cancer
, vol.47
, pp. 785-789
-
-
Mora, J.1
Cascon, A.2
Robledo, M.3
Catala, A.4
-
42
-
-
77957740529
-
Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene
-
Oishi Y, Nagai S, Yoshida M, Fujisawa S, Sazawa A, Shinohara N, Nonomura K, Matsuno K, Shimizu C. Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene. Endocr J 2010;57:745-50.
-
(2010)
Endocr J
, vol.57
, pp. 745-750
-
-
Oishi, Y.1
Nagai, S.2
Yoshida, M.3
Fujisawa, S.4
Sazawa, A.5
Shinohara, N.6
Nonomura, K.7
Matsuno, K.8
Shimizu, C.9
-
43
-
-
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 Endocrinol Metab 2002;87:4101-5.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4101-4105
-
-
Young, A.L.1
Baysal, B.E.2
Deb, A.3
Young Jr, W.F.4
-
44
-
-
27244446452
-
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
-
Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Valimaki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005;294:2057-63.
-
(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..
-
45
-
-
0042566135
-
Altitude is a phenotypic modifier in hereditary paraganglioma type 1 Evidence for an oxygen-sensing defect
-
Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect. Human Genetics 2003;113:228-37.
-
(2003)
Human Genetics
, vol.113
, pp. 228-237
-
-
Astrom, K.1
Cohen, J.E.2
Willett-Brozick, J.E.3
Aston, C.E.4
Baysal, B.E.5
-
46
-
-
34250787602
-
Malignant head and neck paragangliomas in SDHB mutation carriers
-
Boedeker CC, Neumann HP, Maier W, Bausch B, Schipper J, Ridder GJ. Malignant head and neck paragangliomas in SDHB mutation carriers. Otolaryngol Head Neck Surg 2007;137:126-9.
-
(2007)
Otolaryngol Head Neck Surg
, vol.137
, pp. 126-129
-
-
Boedeker, C.C.1
Neumann, H.P.2
Maier, W.3
Bausch, B.4
Schipper, J.5
Ridder, G.J.6
-
47
-
-
77449121207
-
The Dutch founder mutation SDHD D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
-
Hensen EF, Jansen JC, Siemers MD, Oosterwijk JC, Vriends AH, Corssmit EPM, Bayley JP, van der Mey AG, Cornelisse CJ, Devilee P. The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. Eur J Hum Genet 2010;18:62-6.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 62-66
-
-
Hensen, E.F.1
Jansen, J.C.2
Siemers, M.D.3
Oosterwijk, J.C.4
Vriends, A.H.5
Corssmit, E.P.M.6
Bayley, J.P.7
van der Mey, A.G.8
Cornelisse, C.J.9
Devilee, P.10
-
48
-
-
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 MR, 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;94:1541-7.
-
(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..
-
49
-
-
57349139443
-
Impact of screening kindreds for SDHD p Cys11X as a common mutation associated with paraganglioma syndrome type 1
-
Peczkowska M, Erlic Z, Hoffmann MM, Furmanek M, Cwikla J, Kubaszek A, Prejbisz A, Szutkowski Z, Kawecki A, Chojnowski K, Lewczuk A, Litwin M, Szyfter W, Walter MA, Sullivan M, Eng C, Januszewicz A, Neumann HP. Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. J Clin Endocrinol Metab 2008;93:4818-25.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 4818-4825
-
-
Peczkowska, M.1
Erlic, Z.2
Hoffmann, M.M.3
Furmanek, M.4
Cwikla, J.5
Kubaszek, A.6
Prejbisz, A.7
Szutkowski, Z.8
Kawecki, A.9
Chojnowski, K.10
Lewczuk, A.11
Litwin, M.12
Szyfter, W.13
Walter, M.A.14
Sullivan, M.15
Eng, C.16
Januszewicz, A.17
Neumann, H.P.18
-
50
-
-
74049144943
-
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
-
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. 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..
-
51
-
-
65249132204
-
Penetrance and clinical consequences of a gross SDHB deletion in a large family
-
Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical consequences of a gross SDHB deletion in a large family. Clin Genet 2009;75:354-63.
-
(2009)
Clin Genet
, vol.75
, pp. 354-363
-
-
Solis, D.C.1
Burnichon, N.2
Timmers, H.J.3
Raygada, M.J.4
Kozupa, A.5
Merino, M.J.6
Makey, D.7
Adams, K.T.8
Venisse, A.9
Gimenez-Roqueplo, A.P.10
Pacak, K.11
-
52
-
-
51649101534
-
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers
-
Srirangalingam U, Walker L, Khoo B, Macdonald F, Gardner D, Wilkin TJ, Skelly RH, George E, Spooner D, Monson JP, Grossman AB, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin Endocrinol (Oxf) 2008;69:587-96.
-
(2008)
Clin Endocrinol (Oxf)
, vol.69
, pp. 587-596
-
-
Srirangalingam, U.1
Walker, L.2
Khoo, B.3
Macdonald, F.4
Gardner, D.5
Wilkin, T.J.6
Skelly, R.H.7
George, E.8
Spooner, D.9
Monson, J.P.10
Grossman, A.B.11
Akker, S.A.12
Pollard, P.J.13
Plowman, N.14
Avril, N.15
Berney, D.M.16
Burrin, J.M.17
Reznek, R.H.18
Kumar, V.K.19
Maher, E.R.20
Chew, S.L.21
more..
-
53
-
-
0022345970
-
A malignant pheochromocytoma with ileus, polyuria and hypercalcemia: a case of recurrence 17 years after the initial operation
-
Baba T, Machida K, Ozaki I, Okushima T, Murabayashi S, Kamata Y, Imamura K, Takebe K. A malignant pheochromocytoma with ileus, polyuria and hypercalcemia: a case of recurrence 17 years after the initial operation. Endocrinol Jpn 1985;32:337-45.
-
(1985)
Endocrinol Jpn
, vol.32
, pp. 337-345
-
-
Baba, T.1
Machida, K.2
Ozaki, I.3
Okushima, T.4
Murabayashi, S.5
Kamata, Y.6
Imamura, K.7
Takebe, K.8
-
54
-
-
0027682788
-
Malignant pheochromocytoma with hepatic metastasis diagnosed 20 years after resection of the primary adrenal lesion
-
Tanaka S, Ito T, Tomoda J, Higashi T, Yamada G, Tsuji T. Malignant pheochromocytoma with hepatic metastasis diagnosed 20 years after resection of the primary adrenal lesion. Intern Med 1993;32:789-94.
-
(1993)
Intern Med
, vol.32
, pp. 789-794
-
-
Tanaka, S.1
Ito, T.2
Tomoda, J.3
Higashi, T.4
Yamada, G.5
Tsuji, T.6
-
55
-
-
66849143816
-
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes
-
Pasini B, Stratakis CA. SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. J Intern Med 2009;266:19-42.
-
(2009)
J Intern Med
, vol.266
, pp. 19-42
-
-
Pasini, B.1
Stratakis, C.A.2
-
56
-
-
77952295734
-
How to assess the external validity of therapeutic trials: a conceptual approach
-
Dekkers OM, von Elm E, Algra A, Romijn JA, Vandenbroucke JP. How to assess the external validity of therapeutic trials: a conceptual approach. Int J Epidemiol 2010;39:89-94.
-
(2010)
Int J Epidemiol
, vol.39
, pp. 89-94
-
-
Dekkers, O.M.1
von Elm, E.2
Algra, A.3
Romijn, J.A.4
Vandenbroucke, J.P.5
|