-
1
-
-
33751190284
-
Phaeochromocytoma, new genes and screening strategies
-
European Network for the Study of Adrenal Tumours (ENS@T) Phaeochromocytoma Working Group (doi:10.1111/j.1365-2265.2006.02714.x)
-
Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER & Plouin PF & European Network for the Study of Adrenal Tumours (ENS@T) Phaeochromocytoma Working Group. Phaeochromocytoma, new genes and screening strategies. Clinical Endocrinology 2006 65 699-705. (doi:10.1111/j.1365-2265.2006.02714.x)
-
(2006)
Clinical Endocrinology
, vol.65
, pp. 699-705
-
-
Gimenez-Roqueplo, A.P.1
Lehnert, H.2
Mannelli, M.3
Neumann, H.4
Opocher, G.5
Maher, E.R.6
Plouin, P.F.7
-
2
-
-
0025000210
-
Clinical features and natural history of von Hippel-Lindau disease
-
Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT & Ferguson-Smith MA. Clinical features and natural history of von Hippel-Lindau disease. Quarterly Journal of Medicine 1990 77 1151-1163.
-
(1990)
Quarterly Journal of Medicine
, 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
Ma, F.-S.7
-
3
-
-
33846913473
-
Genotype-phenotype correlations in von Hippel-Lindau disease
-
doi:10.1002/humu.20385
-
Ong KR,Woodward ER, Killick P, Lim C, Macdonald F & Maher ER. Genotype-phenotype correlations in von Hippel-Lindau disease. Human Mutation 2007 28 143-149. (doi:10.1002/humu.20385)
-
(2007)
Human Mutation
, vol.28
, pp. 143-149
-
-
Ong, K.R.1
Woodward, E.R.2
Killick, P.3
Lim, C.4
Macdonald, F.5
Maher, E.R.6
-
4
-
-
79956317112
-
Von Hippel-Lindau disease: A clinical and scientific review
-
doi:10.1038/ejhg.2010.175
-
Maher ER, Neumann HP & Richard S. von Hippel-Lindau disease: a clinical and scientific review. European Journal of Human Genetics 2011 19 617-623. (doi:10.1038/ejhg.2010.175)
-
(2011)
European Journal of Human Genetics
, vol.19
, pp. 617-623
-
-
Maher, E.R.1
Neumann, H.P.2
Richard, S.3
-
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, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, Weber J, Rückauer K, Plouin PF, Darrouzet V, Giraud S, Eng C & Neumann HP. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism 2009 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
Burnichon, N.11
Gaal, J.12
Walter, M.A.13
Reschke, K.14
Wiech, T.15
Weber, J.16
Rückauer, K.17
Plouin, P.F.18
Darrouzet, V.19
Giraud, S.20
Eng, C.21
Neumann, H.P.22
more..
-
6
-
-
0028030581
-
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype
-
doi:10.1093/hmg/3.8.1303
-
Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, Zbar B, Affara NA, Ferguson-Smith MA & Maher ER. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Human Molecular Genetics 1994 3 1303-1308. (doi:10.1093/hmg/3.8.1303)
-
(1994)
Human Molecular Genetics
, vol.3
, pp. 1303-1308
-
-
Crossey, P.A.1
Richards, F.M.2
Foster, K.3
Green, J.S.4
Prowse, A.5
Latif, F.6
Lerman, M.I.7
Zbar, B.8
Affara, N.A.9
Ferguson-Smith, M.A.10
Maher, E.R.11
-
7
-
-
0030804006
-
Genetic predisposition to phaeochromocytoma: Analysis of candidate genes GDNF, RET and VHL
-
doi:10.1093/hmg/6.7.1051
-
Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA & Maher ER. Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Human Molecular Genetics 1997 6 1051-1056. (doi:10.1093/hmg/6.7.1051)
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 1051-1056
-
-
Woodward, E.R.1
Eng, C.2
McMahon, R.3
Voutilainen, R.4
Affara, N.A.5
Ponder, B.A.6
Maher, E.R.7
-
8
-
-
80052599580
-
Multiple endocrine neoplasia type 2: An overview
-
Moline J & Eng C. Multiple endocrine neoplasia type 2: an overview. Genetics in Medicine 2011 13 755-764.
-
(2011)
Genetics in Medicine
, vol.13
, pp. 755-764
-
-
Moline, J.1
Eng, C.2
-
9
-
-
34748870667
-
Evidence of MEN-2 in the original description of classic pheochromocytoma
-
doi:10.1056/NEJMoa071407
-
Neumann HP, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, Bausch B, Januszewicz A & Eng C. Evidence of MEN-2 in the original description of classic pheochromocytoma. New England Journal of Medicine 2007 357 1311-1315. (doi:10.1056/NEJMoa071407)
-
(2007)
New England Journal of Medicine
, vol.357
, pp. 1311-1315
-
-
Neumann, H.P.1
Vortmeyer, A.2
Schmidt, D.3
Werner, M.4
Erlic, Z.5
Cascon, A.6
Bausch, B.7
Januszewicz, A.8
Eng, C.9
-
10
-
-
4644256817
-
The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
-
Eng C, Clayton D, Schuffenecker I, Lenoir G, Coke G, Gagel RF, van Arnstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, NollWW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN & Mulligan LM. The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Journal of the American Medical Association 1996 276 1575-1579.
-
(1996)
Journal of the American Medical Association
, vol.276
, pp. 1575-1579
-
-
Eng, C.1
Clayton, D.2
Schuffenecker, I.3
Lenoir, G.4
Coke, G.5
Gagel, R.F.6
Van Arnstel, H.K.7
Lips, C.J.8
Nishisho, I.9
Takai, S.I.10
Marsh, D.J.11
Robinson, B.G.12
Frank-Raue, K.13
Raue, F.14
Xue, F.15
Noll, W.W.16
Romei, C.17
Pacini, F.18
Fink, M.19
Niederle, B.20
Zedenius, J.21
Nordenskjold, M.22
Komminoth, P.23
Hendy, G.N.24
Mulligan, L.M.25
more..
-
11
-
-
33845337099
-
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B
-
doi:10.1158/0008-5472.CAN-06-3329
-
Gujral TS, Singh VK, Jia Z & Mulligan LM. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. Cancer Research 2006 66 10741-10749. (doi:10.1158/0008-5472.CAN-06-3329)
-
(2006)
Cancer Research
, vol.66
, pp. 10741-10749
-
-
Gujral, T.S.1
Singh, V.K.2
Jia, Z.3
Mulligan, L.M.4
-
12
-
-
77953686253
-
Common alleles of predisposition in endocrine neoplasia
-
doi:10.1016/j.gde.2010.02.004
-
Eng C. Common alleles of predisposition in endocrine neoplasia. Current Opinion in Genetics & Development 2010 20 251-256. (doi:10.1016/j.gde.2010. 02.004)
-
(2010)
Current Opinion in Genetics & Development
, vol.20
, pp. 251-256
-
-
Eng, C.1
-
13
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
doi:10.1056/NEJMoa020152
-
Neumann HP, Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier- Woelfle M, Peçzkowska M, Szmigielski C & Eng C. Germ-line mutations in nonsyndromic pheochromocytoma. New England Journal of Medicine 2002 346 1459-1466. (doi:10.1056/NEJMoa020152)
-
(2002)
New England Journal of Medicine
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Neumann, H.P.2
Bausch, B.3
McWhinney, S.R.4
Bender, B.U.5
Gimm, O.6
Franke, G.7
Schipper, J.8
Klisch, J.9
Altehoefer, C.10
Zerres, K.11
Januszewicz, A.12
Eng, C.13
Smith, W.M.14
Munk, R.15
Manz, T.16
Glaesker, S.17
Apel, T.W.18
Treier, M.19
Reineke, M.20
Walz, M.K.21
Hoang-Vu, C.22
Brauckhoff, M.23
Klein-Franke, A.24
Klose, P.25
Schmidt, H.26
Maier- Woelfle, M.27
Peçzkowska, M.28
Szmigielski, C.29
Eng, C.30
more..
-
15
-
-
70350525570
-
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1
-
doi:10.2174/156652409788488801
-
Larizza L, Gervasini C, Natacci F & Riva P. Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. Current Molecular Medicine 2009 9 634-653. (doi:10.2174/156652409788488801)
-
(2009)
Current Molecular Medicine
, vol.9
, pp. 634-653
-
-
Larizza, L.1
Gervasini, C.2
Natacci, F.3
Riva, P.4
-
16
-
-
33748755275
-
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma
-
doi:10.1210/jc.2006-0780
-
Bausch B, Koschker AC, Fassnacht M, Stoevesandt J, Hoffmann MM, Eng C, Allolio B & Neumann HP. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. Journal of Clinical Endocrinology and Metabolism 2006 91 3478-3481. (doi:10.1210/jc.2006-0780)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, 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
-
17
-
-
75649101760
-
Clinical and genetic aspects of neurofibromatosis 1
-
doi:10.1097/GIM.0b013e3181bf15e3
-
Jett K & Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genetics in Medicine 2010 12 1-11. (doi:10.1097/GIM. 0b013e3181bf15e3)
-
(2010)
Genetics in Medicine
, vol.12
, pp. 1-11
-
-
Jett, K.1
Friedman, J.M.2
-
19
-
-
34447114512
-
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
-
European- American Phaeochromocytoma Registry Study Group. (doi:10.1210/jc.2006-2833)
-
Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg- Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C & Neumann HP & European- American Phaeochromocytoma Registry Study Group. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. Journal of Clinical Endocrinology and Metabolism 2007 92 2784-2792. (doi:10.1210/jc.2006-2833)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, pp. 2784-2792
-
-
Bausch, B.1
Borozdin, W.2
Mautner, V.F.3
Hoffmann, M.M.4
Boehm, D.5
Robledo, M.6
Cascon, A.7
Harenberg, T.8
Schiavi, F.9
Pawlu, C.10
Peczkowska, M.11
Letizia, C.12
Calvieri, S.13
Arnaldi, G.14
Klingenberg- Noftz, R.D.15
Reisch, N.16
Fassina, A.17
Brunaud, L.18
Walter, M.A.19
Mannelli, M.20
MacGregor, G.21
Palazzo, F.F.22
Barontini, M.23
Walz, M.K.24
Kremens, B.25
Brabant, G.26
Pfäffle, R.27
Koschker, A.C.28
Lohoefner, F.29
Mohaupt, M.30
Gimm, O.31
Jarzab, B.32
McWhinney, S.R.33
Opocher, G.34
Januszewicz, A.35
Kohlhase, J.36
Eng, C.37
Neumann, H.P.38
more..
-
20
-
-
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, Richard CW III, Cornelisse CJ, Devilee P & Devlin B. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000 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
Richard III, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
21
-
-
0035857957
-
Germline SDHD mutation in familial phaeochromocytoma
-
doi:10.1016/S0140-6736(00)04378-6
-
Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F & Maher ER. Germline SDHD mutation in familial phaeochromocytoma. Lancet 2001a 357 1181-1182. (doi:10.1016/S0140-6736(00)04378- 6)
-
(2001)
Lancet
, vol.357
, pp. 1181-1182
-
-
Astuti, D.1
Douglas, F.2
Lennard, T.W.3
Aligianis, I.A.4
Woodward, E.R.5
Evans, D.G.6
Eng, C.7
Latif, F.8
Maher, E.R.9
-
22
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
European-American Paraganglioma Study Group. (doi:10.1001/jama.292.8.943)
-
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 & European-American Paraganglioma Study Group. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Journal of the American Medical Association 2004 292 943-951. (doi:10.1001/jama.292.8.943)
-
(2004)
Journal of the American Medical Association
, 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
-
23
-
-
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, 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. Human Mutation 2010 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
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..
-
24
-
-
43249105719
-
Paraganglioma after maternal transmission of succinate dehydrogenase gene mutation
-
doi:10.1210/jc.2007-1989
-
Pigny P, Vincent A, Cardot Bauters C, Bertrand M, de Montpreville VT, Crepin M, Pardet N & Caron P. Paraganglioma after maternal transmission of succinate dehydrogenase gene mutation. Journal of Clinical Endocrinology and Metabolism 2008 93 1609-1615. (doi:10.1210/jc.2007-1989)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 1609-1615
-
-
Pigny, P.1
Vincent, A.2
Cardot Bauters, C.3
Bertrand, M.4
De Montpreville, V.T.5
Crepin, M.6
Pardet, N.7
Caron, P.8
-
25
-
-
43249085940
-
Maternal transmission of symptomatic disease with SDHD mutation: Fact or fiction
-
doi:10.1210/jc.2008-0569
-
Neumann HP & Erlic Z. Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction. Journal of Clinical Endocrinology and Metabolism 2008 93 1573-1575. (doi:10.1210/jc.2008-0569)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 1573-1575
-
-
Neumann, H.P.1
Erlic, Z.2
-
26
-
-
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. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. American Journal of Human Genetics 2001b 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
-
27
-
-
51749113159
-
Germline SDHB mutations and familial renal cell carcinoma
-
doi:10.1093/jnci/djn254
-
Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F & Maher ER. Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 2008 100 1260-1262. (doi:10.1093/jnci/djn254)
-
(2008)
Journal of the National Cancer Institute
, 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
-
28
-
-
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 & COMETE Network. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Research 2003 63 5615-5621.
-
(2003)
Cancer Research
, 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
Van Khau Kien, P.7
Corvol, P.8
Plouin, P.F.9
Jeunemaitre, X.10
Network, C.11
-
29
-
-
33644834491
-
Genetic testing in pheochromocytoma or functional paraganglioma
-
doi:10.1200/JCO.2005.03.1484
-
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 JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X & Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma or functional paraganglioma. Journal of Clinical Oncology 2005 23 8812-8818. (doi:10.1200/JCO.2005.03.1484)
-
(2005)
Journal of Clinical Oncology
, 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..
-
30
-
-
33751528825
-
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: Implications for genetic testing
-
doi:10.1210/jc.2006-0423
-
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. Journal of Clinical Endocrinology and Metabolism 2006 91 4505-4509. (doi:10.1210/jc.2006-0423)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, 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
-
31
-
-
35348989206
-
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
-
doi:10.1210/jc.2007-0709
-
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. Journal of Clinical Endocrinology and Metabolism 2007 92 3822-3828. (doi:10.1210/jc.2007-0709)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, 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
-
32
-
-
77952677533
-
Are we overestimating the penetrance of mutations in SDHB?
-
doi:10.1002/humu.21269
-
Schiavi F, Milne RL, Anda E, Blay P, Castellano M, Opocher G, Robledo M & Cascón A. Are we overestimating the penetrance of mutations in SDHB? Human Mutation 2010 31 761-762. (doi:10.1002/humu.21269)
-
(2010)
Human Mutation
, vol.31
, pp. 761-762
-
-
Schiavi, F.1
Milne, R.L.2
Anda, E.3
Blay, P.4
Castellano, M.5
Opocher, G.6
Robledo, M.7
Cascón, A.8
-
33
-
-
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
-
doi:10.1038/sj.ejhg.5201904
-
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA & Stratakis CA. 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. European Journal of Human Genetics 2008 16 79-88. (doi:10.1038/sj.ejhg.5201904)
-
(2008)
European Journal of Human Genetics
, 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
-
34
-
-
78651082042
-
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
-
doi:10.1073/pnas.1009199108
-
Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L & Stratakis CA. Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. PNAS 2011 108 314-318. (doi:10.1073/pnas.1009199108)
-
(2011)
PNAS
, vol.108
, pp. 314-318
-
-
Janeway, K.A.1
Kim, S.Y.2
Lodish, M.3
Nosé, V.4
Rustin, P.5
Gaal, J.6
Dahia, P.L.7
Liegl, B.8
Ball, E.R.9
Raygada, M.10
Lai, A.H.11
Kelly, L.12
Hornick, J.L.13
O'Sullivan, M.14
De Krijger, R.R.15
Dinjens, W.N.16
Demetri, G.D.17
Antonescu, C.R.18
Fletcher, J.A.19
Helman, L.20
Stratakis, C.A.21
more..
-
35
-
-
34548830453
-
Genetic screening for phaeochromocytoma: Should SDHC gene analysis be included?
-
doi:10.1136/jmg.2007.051045
-
Mannelli J, Ercolino T, Giache V, Simi L, Cirami C & Paranti G. Genetic screening for phaeochromocytoma: should SDHC gene analysis be included? Journal of Medical Genetics 2007 44 586-587. (doi:10.1136/jmg.2007.051045)
-
(2007)
Journal of Medical Genetics
, vol.44
, pp. 586-587
-
-
Mannelli, J.1
Ercolino, T.2
Giache, V.3
Simi, L.4
Cirami, C.5
Paranti, G.6
-
36
-
-
38549134313
-
Extra-adrenal and adrenal phaeochromocytomas associated with a germline SDHC mutation
-
doi:10.1038/ncpendmet0726
-
Peczkowska M, Cascon A, Prejbisz A, Kubaszek A, Cwiskla BJ, Furmanek M, Erlic Z & Eng C. Extra-adrenal and adrenal phaeochromocytomas associated with a germline SDHC mutation. Nature Clinical Practice. Endocrinology & Metabolism 2008 4 111-115. (doi:10.1038/ncpendmet0726)
-
(2008)
Nature Clinical Practice. Endocrinology & Metabolism
, vol.4
, pp. 111-115
-
-
Peczkowska, M.1
Cascon, A.2
Prejbisz, A.3
Kubaszek, A.4
Cwiskla, B.J.5
Furmanek, M.6
Erlic, Z.7
Eng, C.8
-
37
-
-
27244446452
-
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
-
European-American Paraganglioma Study Group. (doi:10.1001/jama.294.16. 2057)
-
Schiavi F, Boedeker CC, Bausch B, Peçzkowska 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, Välimäki 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 & European-American Paraganglioma Study Group. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. Journal of the American Medical Association 2005 294 2057-2063. (doi:10.1001/jama.294.16.2057)
-
(2005)
Journal of the American Medical Association
, vol.294
, pp. 2057-2063
-
-
Schiavi, F.1
Boedeker, C.C.2
Bausch, B.3
Peçzkowska, 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
Välimäki, 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..
-
39
-
-
68549092478
-
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
-
PGLNET network. (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, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X & Gimenez- Roqueplo AP & PGLNET network. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Journal of Clinical Endocrinology and Metabolism 2009 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
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..
-
40
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
doi:10.1038/ng1095-144
-
Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A & Rotig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genetics 1995 11 144-149. (doi:10.1038/ng1095-144)
-
(1995)
Nature Genetics
, vol.11
, pp. 144-149
-
-
Bourgeron, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Viegas-Pequignot, E.6
Munnich, A.7
Rotig, A.8
-
41
-
-
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, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J & Gimenez-Roqueplo AP. SDHA is a tumor suppressor gene causing paraganglioma. Human Molecular Genetics 2010 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
Bénit, P.9
Tzagoloff, A.10
Rustin, P.11
Bertherat, J.12
Favier, J.13
Gimenez-Roqueplo, A.P.14
-
42
-
-
80052540617
-
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas
-
doi:10.1210/jc.2011-1043
-
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de HerderWW, Tissier F, Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP & de Krijger RR. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. Journal of Clinical Endocrinology and Metabolism 2011 96 E1472-E1476. (doi:10.1210/jc.2011-1043)
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, 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
-
43
-
-
77649175595
-
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
-
doi:10.1038/ng.533
-
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC & Dahia PL. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nature Genetics 2010 42 229-233. (doi:10.1038/ng.533)
-
(2010)
Nature Genetics
, 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
-
44
-
-
78650200503
-
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas
-
doi:10.1001/jama.2010.1830
-
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M & Dahia PL. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. Journal of the American Medical Association 2010 304 2611-2619. (doi:10.1001/jama.2010.1830)
-
(2010)
Journal of the American Medical Association
, vol.304
, pp. 2611-2619
-
-
Yao, L.1
Schiavi, F.2
Cascon, A.3
Qin, Y.4
Inglada-Pérez, L.5
King, E.E.6
Toledo, R.A.7
Ercolino, T.8
Rapizzi, E.9
Ricketts, C.J.10
Mori, L.11
Giacchè, 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..
-
45
-
-
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 & Eng C. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. Journal of Clinical Endocrinology and Metabolism 2011 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
Eng, C.11
-
46
-
-
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, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández- Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M & Cascón A. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genetics 2011 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
Gómez-Graña, A.11
De Cubas, A.A.12
Inglada-Pérez, L.13
Maliszewska, A.14
Taschin, E.15
Bobisse, S.16
Pica, G.17
Loli, P.18
Hernández- Lavado, R.19
Díaz, J.A.20
Gómez-Morales, M.21
González-Neira, A.22
Roncador, G.23
Rodríguez-Antona, C.24
Benítez, J.25
Mannelli, M.26
Opocher, G.27
Robledo, M.28
Cascón, A.29
more..
-
47
-
-
54049148638
-
KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death
-
doi:10.1074/jbc.M802316200
-
Munirajan AK, Ando K, Mukai A, Takahashi M, Suenaga Y, Ohira M, Koda T, Hirota T, Ozaki T & Nakagawara A. KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death. Journal of Biological Chemistry 2008 283 24426-24434. (doi:10.1074/jbc.M802316200)
-
(2008)
Journal of Biological Chemistry
, vol.283
, pp. 24426-24434
-
-
Munirajan, A.K.1
Ando, K.2
Mukai, A.3
Takahashi, M.4
Suenaga, Y.5
Ohira, M.6
Koda, T.7
Hirota, T.8
Ozaki, T.9
Nakagawara, A.10
-
48
-
-
58049215232
-
PHD2 mutation and congenital erythrocytosis with paraganglioma
-
doi:10.1056/NEJMoa0806277
-
Ladroue C, Carcenac R, Leporrier M, Gad S, Le Helloe C, Galateau- Salle F, Feunteun J, Pouysségur J, Richard S & Gardie B. PHD2 mutation and congenital erythrocytosis with paraganglioma. New England Journal of Medicine 2008 359 2685-2692. (doi:10.1056/NEJMoa0806277)
-
(2008)
New England Journal of Medicine
, vol.359
, pp. 2685-2692
-
-
Ladroue, C.1
Carcenac, R.2
Leporrier, M.3
Gad, S.4
Le Helloe, C.5
Galateau- Salle, F.6
Feunteun, J.7
Pouysségur, J.8
Richard, S.9
Gardie, B.10
-
49
-
-
53749107898
-
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors
-
doi:10.1007/s00439-008-0553-1
-
Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P & Dahia PL. A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Human Genetics 2008 124 279-285. (doi:10.1007/s00439-008-0553-1)
-
(2008)
Human Genetics
, vol.124
, pp. 279-285
-
-
Yeh, I.T.1
Lenci, R.E.2
Qin, Y.3
Buddavarapu, K.4
Ligon, A.H.5
Leteurtre, E.6
Do Cao, C.7
Cardot-Bauters, C.8
Pigny, P.9
Dahia, P.L.10
-
50
-
-
79251478772
-
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
-
doi:10.1677/ERC-10-0113
-
Astuti D, Ricketts CJ, Chowdhury R, McDonough MA, Gentle D, Kirby G, Schlisio S, Kenchappa RS, Carter BD, Kaelin WG Jr, Ratcliffe PJ, Schofield CJ, Latif F & Maher ER. Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility. Endocrine-Related Cancer 2010 18 73-83. (doi:10.1677/ERC-10- 0113)
-
(2010)
Endocrine-Related Cancer
, vol.18
, pp. 73-83
-
-
Astuti, D.1
Ricketts, C.J.2
Chowdhury, R.3
McDonough, M.A.4
Gentle, D.5
Kirby, G.6
Schlisio, S.7
Kenchappa, R.S.8
Carter, B.D.9
Kaelin Jr., W.G.10
Ratcliffe, P.J.11
Schofield, C.J.12
Latif, F.13
Maher, E.R.14
-
51
-
-
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, Gygi SP, Winge DR, Kremer H & Rutter J. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009 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
Gygi, S.P.11
Winge, D.R.12
Kremer, H.13
Rutter, J.14
-
52
-
-
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, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR & Robledo M. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncology 2010 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
Suárez, 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..
-
53
-
-
77955594623
-
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas
-
doi:10.1371/journal.pgen.0010008
-
Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C & Stiles CD. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genetics 2005 1 72-80. (doi:10.1371/journal.pgen. 0010008)
-
(2005)
PLoS Genetics
, 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
Nosé, V.27
Li, C.28
Stiles, C.D.29
more..
-
54
-
-
33751530026
-
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations
-
doi:10.1210/jc.2006-0920
-
Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J, Latif F, Gleeson MJ, Hodgson SV, Stamp GW, Tomlinson IP & Maher ER. Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. Journal of Clinical Endocrinology and Metabolism 2006 91 4593-4598. (doi:10.1210/jc.2006-0920)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 4593-4598
-
-
Pollard, P.J.1
El-Bahrawy, M.2
Poulsom, R.3
Elia, G.4
Killick, P.5
Kelly, G.6
Hunt, T.7
Jeffery, R.8
Seedhar, P.9
Barwell, J.10
Latif, F.11
Gleeson, M.J.12
Hodgson, S.V.13
Stamp, G.W.14
Tomlinson, I.P.15
Maher, E.R.16
-
55
-
-
80053139912
-
Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
-
Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E, Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J & Gimenez-Roqueplo AP. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Human Molecular Genetics 2011.
-
(2011)
Human Molecular Genetics
-
-
Burnichon, N.1
Vescovo, L.2
Amar, L.3
Libé, 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
-
56
-
-
33845488766
-
Transcriptional regulation of phenylethanolamine n-methyltransferases in phaeochromocytoma from patients with von Hippel-Lindau syndrome and MEN type 2
-
doi:10.1196/annals.1353.026
-
Huynhh TT, Pack K, Wang DL, Linehan WM, Goldsterin DS, Eikahloun AG, Munson PJ & Eisenhoser G. Transcriptional regulation of phenylethanolamine n-methyltransferases in phaeochromocytoma from patients with von Hippel-Lindau syndrome and MEN type 2. Annals of the New York Academy of Sciences 2006 1073 241-252. (doi:10.1196/annals.1353.026)
-
(2006)
Annals of the New York Academy of Sciences
, vol.1073
, pp. 241-252
-
-
Huynhh, T.T.1
Pack, K.2
Wang, D.L.3
Linehan, W.M.4
Goldsterin, D.S.5
Eikahloun, A.G.6
Munson, P.J.7
Eisenhoser, G.8
-
57
-
-
70350217774
-
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
-
doi:10.1158/1078-0432.CCR-09-1237
-
Erlic Z, Rybicki L, Peczkowska M, Golcher H, Kann PH, Brauckhoff M, Müssig K, Muresan M, Schäffler A, Reisch N, Schott M, Fassnacht M, Opocher G, Klose S, Fottner C, Forrer F, Plöckinger U, Petersenn S, Zabolotny D, Kollukch O, Yaremchuk S, Januszewicz A,Walz MK, Eng C & Neumann HP. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clinical Cancer Research 2009 15 6378-6385. (doi:10.1158/1078-0432.CCR-09-1237)
-
(2009)
Clinical Cancer Research
, vol.15
, pp. 6378-6385
-
-
Erlic, Z.1
Rybicki, L.2
Peczkowska, M.3
Golcher, H.4
Kann, P.H.5
Brauckhoff, M.6
Müssig, K.7
Muresan, M.8
Schäffler, A.9
Reisch, N.10
Schott, M.11
Fassnacht, M.12
Opocher, G.13
Klose, S.14
Fottner, C.15
Forrer, F.16
Plöckinger, U.17
Petersenn, S.18
Zabolotny, D.19
Kollukch, O.20
Yaremchuk, S.21
Januszewicz, A.22
Walz, M.K.23
Eng, C.24
Neumann, H.P.25
more..
-
58
-
-
67651198212
-
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: Retrospective and prospective analysis
-
doi:10.1016/S1470-2045(09)70164-0
-
van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR & Dinjens WN. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: retrospective and prospective analysis. Lancet Oncology 2009 8 764-771. (doi:10.1016/S1470-2045(09)70164-0)
-
(2009)
Lancet Oncology
, vol.8
, 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
Rivière, 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 Bruïne, A.P.21
Maher, E.R.22
Tissier, F.23
Méatchi, T.24
Badoual, C.25
Bertherat, J.26
Amar, L.27
Alataki, D.28
Van Marck, E.29
Ferrau, F.30
François, 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..
-
59
-
-
78649404935
-
Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas
-
doi:10.1210/me.2010-0256
-
López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez-Antona C, Letón R, Bernal C, de Campos JM, Diez- Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M & Cascón A. Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Molecular Endocrinology 2010 24 2382-2391. (doi:10.1210/me.2010-0256)
-
(2010)
Molecular Endocrinology
, vol.24
, pp. 2382-2391
-
-
López-Jiménez, E.1
Gómez-López, G.2
Leandro-García, L.J.3
Muñoz, I.4
Schiavi, F.5
Montero-Conde, C.6
De Cubas, A.A.7
Ramires, R.8
Landa, I.9
Leskelä, S.10
Maliszewska, A.11
Inglada-Pérez, L.12
De La Vega, L.13
Rodríguez-Antona, C.14
Letón, R.15
Bernal, C.16
De Campos, J.M.17
Diez- Tascón, C.18
Fraga, M.F.19
Boullosa, C.20
Pisano, D.G.21
Opocher, G.22
Robledo, M.23
Cascón, A.24
more..
-
60
-
-
77950439516
-
Massively parallel sequencing of ataxia genes after array-based enrichment
-
doi:10.1002/humu.21221
-
Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H & Veltman JA. Massively parallel sequencing of ataxia genes after array-based enrichment. Human Mutation 2010 31 494-499. (doi:10.1002/humu.21221)
-
(2010)
Human Mutation
, vol.31
, pp. 494-499
-
-
Hoischen, A.1
Gilissen, C.2
Arts, P.3
Wieskamp, N.4
Van Der Vliet, W.5
Vermeer, S.6
Steehouwer, M.7
De Vries, P.8
Meijer, R.9
Seiqueros, J.10
Knoers, N.V.11
Buckley, M.F.12
Scheffer, H.13
Veltman, J.A.14
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