-
1
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
doi:10.1086/321282
-
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C & Maher ER 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. American Journal of Human Genetics 69 49-54. (doi:10.1086/321282)
-
(2001)
American Journal of Human Genetics
, 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
-
2
-
-
77950342008
-
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
-
doi:10.1016/S1470-2045(10)70007-3
-
Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA et al. 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncology 11 366-372. (doi:10.1016/S1470-2045(10)70007-3)
-
(2010)
Lancet Oncology
, 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
-
3
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
doi:10.1126/science.287.5454.848
-
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN et al. 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 848-851. (doi:10.1126/science.287.5454.848)
-
(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
-
4
-
-
18344381765
-
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
-
doi:10.1136/jmg.39.3.178
-
Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH III, Myers EN et al. 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. Journal of Medical Genetics 39 178-183. (doi:10.1136/jmg.39.3. 178)
-
(2002)
Journal of Medical Genetics
, vol.39
, pp. 178-183
-
-
Baysal, B.E.1
Willett-Brozick, J.E.2
Lawrence, E.C.3
Drovdlic, C.M.4
Savul, S.A.5
McLeod, D.R.6
Yee, H.A.7
Brackmann, D.E.8
Slattery III, W.H.9
Myers, E.N.10
-
5
-
-
66749179952
-
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
-
doi:10.1210/jc.2009-0354
-
Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez- Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR et al. 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism 94 1938-1944. (doi:10.1210/jc.2009-0354)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 1938-1944
-
-
Boedeker, C.C.1
Erlic, Z.2
Richard, S.3
Kontny, U.4
Gimenez- Roqueplo, A.P.5
Cascon, A.6
Robledo, M.7
De Campos, J.M.8
Van Nederveen, F.H.9
De Krijger, R.R.10
-
6
-
-
68549092478
-
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
-
doi:10.1210/jc.2008-2504
-
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F et al. 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Journal of Clinical Endocrinology and Metabolism 94 2817-2827. (doi:10.1210/jc.2008-2504)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, 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
-
7
-
-
77958164441
-
SDHA is a tumor suppressor gene causing paraganglioma
-
doi:10.1093/hmg/ddq206
-
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Be'nit P, Tzagoloff A et al. 2010 SDHA is a tumor suppressor gene causing paraganglioma. Human Molecular Genetics 19 3011-3020. (doi:10.1093/hmg/ddq206)
-
(2010)
Human Molecular Genetics
, vol.19
, pp. 3011-3020
-
-
Burnichon, N.1
Brière, J.J.2
Libé, R.3
Vescovo, L.4
Rivière, J.5
Tissier, F.6
Jouanno, E.7
Jeunemaitre, X.8
Be'nit, P.9
Tzagoloff, A.10
-
8
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
doi:10.1038/ng.861
-
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G et al. 2011 Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genetics 43 663-667. (doi:10.1038/ng.861)
-
(2011)
Nature Genetics
, vol.43
, pp. 663-667
-
-
Comino-Méndez, I.1
Gracia-Aznárez, F.J.2
Schiavi, F.3
Landa, I.4
Leandro-García, L.J.5
Letón, R.6
Honrado, E.7
Ramos-Medina, R.8
Caronia, D.9
Pita, G.10
-
9
-
-
42149176822
-
Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations
-
doi:10. 1111/j.1365-2265.2007.03131.x
-
Ercolino T, Becherini L, Valeri A, Maiello M, Gaglianò MS, Parenti G, Ramazzotti M, Piscitelli E, Simi L, Pinzani P et al. 2008 Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations. Clinical Endocrinology 68 762-768. (doi:10. 1111/j.1365-2265.2007.03131.x)
-
(2008)
Clinical Endocrinology
, vol.68
, pp. 762-768
-
-
Ercolino, T.1
Becherini, L.2
Valeri, A.3
Maiello, M.4
Gaglianò, M.S.5
Parenti, G.6
Ramazzotti, M.7
Piscitelli, E.8
Simi, L.9
Pinzani, P.10
-
10
-
-
70449100913
-
Parasympathetic paragangliomas are part of the von Hippel-Lindau syndrome
-
doi:10.1210/jc.2009-1479
-
Gaal J, van Nederveen FH, Erlic Z, Korpershoek E, Oldenburg R, Boedeker CC, Kontny U, Neumann HP, Dinjens WN & de Krijger RR 2009 Parasympathetic paragangliomas are part of the von Hippel-Lindau syndrome. Journal of Clinical Endocrinology and Metabolism 94 4367-4371. (doi:10.1210/jc.2009-1479)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, 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
-
11
-
-
69549088424
-
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
-
doi:10.1126/science.1175689
-
Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG et al. 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325 1139-1142. (doi:10.1126/science.1175689)
-
(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
-
12
-
-
80054737756
-
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients
-
(doi: 10.1111/j.1365- 2265.2011.04097.x). (doi:10.1111/j.1365-2265.2011. 04097.x)
-
Hensen EF, Siemers MD, Jansen JC, Corssmit EPM, Romijn JA, Tops CMJ, Van der Mey AGL, Devilee P, Cornelisse CJ, Bayley JP et al. 2011 Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients. Clinical Endocrinology 75 650-655 (doi: 10.1111/j.1365- 2265.2011.04097.x). (doi:10.1111/j.1365-2265.2011.04097.x)
-
(2011)
Clinical Endocrinology
, vol.75
, pp. 650-655
-
-
Hensen, E.F.1
Siemers, M.D.2
Jansen, J.C.3
Corssmit, E.P.M.4
Romijn, J.A.5
Tops, C.M.J.6
Van Der Mey, A.G.L.7
Devilee, P.8
Cornelisse, C.J.9
Bayley, J.P.10
-
13
-
-
84860907580
-
Anatomy and physiology of peripheral arterial chemoreceptors
-
1st edn, Ed, WB Saunders. Philadelphia, PA, USA: Saunders
-
Lack EE 2004 Anatomy and physiology of peripheral arterial chemoreceptors. In Pathology of Adrenal and Extra-adrenal Paraganglia, 1st edn, pp 41-76. Ed, WB Saunders. Philadelphia, PA, USA: Saunders.
-
(2004)
Pathology of Adrenal and Extra-adrenal Paraganglia
, pp. 41-76
-
-
Lack, E.E.1
-
14
-
-
36849056626
-
High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: Mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations
-
doi:10.1210/jc.2007-0640
-
Lima J, Feijão T, Ferreira da Silva A, Pereira-Castro I, Fernandez-Ballester G, Máximo V, Herrero A, Serrano L, Sobrinho-Simões M & Garcia-Rostan G 2007 High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations. Journal of Clinical Endocrinology and Metabolism 92 4853-4864. (doi:10.1210/jc.2007-0640)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, pp. 4853-4864
-
-
Lima, J.1
Feijão, T.2
Ferreira Da Silva, A.3
Pereira-Castro, I.4
Fernandez-Ballester, G.5
Máximo, V.6
Herrero, A.7
Serrano, L.8
Sobrinho-Simões, M.9
Garcia-Rostan, G.10
-
15
-
-
66149098136
-
Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
-
doi:10.1210/jc.2008-2419
-
Mannelli M, Castellano M, Schiavi F, Filetti S, Giacché M, Mori L, Pignataro V, Bernini G, Giaché V, Bacca A et al. 2009 Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. Journal of Clinical Endocrinology and Metabolism 94 1541-1547. (doi:10.1210/jc.2008-2419)
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 1541-1547
-
-
Mannelli, M.1
Castellano, M.2
Schiavi, F.3
Filetti, S.4
Giacché, M.5
Mori, L.6
Pignataro, V.7
Bernini, G.8
Giaché, V.9
Bacca, A.10
-
16
-
-
0028809123
-
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity
-
doi:10.1007/BF00225075
-
Mariman EC, van Beersum SE, Cremers CW, Struycken PM & Ropers HH 1995 Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Human Genetics 95 56-62. (doi:10.1007/BF00225075)
-
(1995)
Human Genetics
, vol.95
, pp. 56-62
-
-
Mariman, E.C.1
Van Beersum, S.E.2
Cremers, C.W.3
Struycken, P.M.4
Ropers, H.H.5
-
17
-
-
66049145825
-
Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fallout
-
doi:10.1158/0008-5472.CAN-08-4057
-
Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C et al. 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fallout. Cancer Research 69 3650-3656. (doi:10.1158/0008-5472.CAN-08-4057)
-
(2009)
Cancer Research
, vol.69
, pp. 3650-3656
-
-
Neumann, H.P.1
Erlic, Z.2
Boedeker, C.C.3
Rybicki, L.A.4
Robledo, M.5
Hermsen, M.6
Schiavi, F.7
Falcioni, M.8
Kwok, P.9
Bauters, C.10
-
18
-
-
79961228236
-
Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
-
doi:10.1210/jc.2011-0114
-
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW et al. 2011 Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. Journal of Clinical Endocrinology and Metabolism 96 E1279-E1282. (doi:10.1210/jc.2011-0114)
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, 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
-
19
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
doi:10.1038/81551
-
Niemann S & Mueller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nature Genetics 26 268-270. (doi:10.1038/81551)
-
(2000)
Nature Genetics
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Mueller, U.2
-
20
-
-
74049144943
-
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
-
doi:10.1002/humu.21136
-
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ et al. 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Human Mutation 31 41-51. (doi:10.1002/humu.21136)
-
(2010)
Human Mutation
, 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
-
21
-
-
29144521042
-
Phenotype variability of neural crest-derived tumors in six Italian families segregating the same founder SDHD mutation Q109X
-
Simi L, Sestrini R, Ferruzzi P, Gallianò MS, Gensini F, Mascalchi M, Guerrini L, Pratesi C, Pinsani P, Nesi G et al. 2005 Phenotype variability of neural crest-derived tumors in six Italian families segregating the same founder SDHD mutation Q109X. Journal of Medical Genetics 42 e52.
-
(2005)
Journal of Medical Genetics
, vol.42
-
-
Simi, L.1
Sestrini, R.2
Ferruzzi, P.3
Gallianò, M.S.4
Gensini, F.5
Mascalchi, M.6
Guerrini, L.7
Pratesi, C.8
Pinsani, P.9
Nesi, G.10
-
22
-
-
77952777089
-
A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma
-
doi:10.1210/jc.2009-2830
-
Waguespack SG, Rich T, Grubbs E, Ying AK, Perrier ND, Ayala-Ramirez M & Jimenez C 2010 A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism 95 2023-2037. (doi:10.1210/jc.2009-2830)
-
(2010)
Journal of Clinical Endocrinology and Metabolism
, vol.95
, pp. 2023-2037
-
-
Waguespack, S.G.1
Rich, T.2
Grubbs, E.3
Ying, A.K.4
Perrier, N.D.5
Ayala-Ramirez, M.6
Jimenez, C.7
|