-
1
-
-
0036798174
-
The pressure rises: Update on the genetics of phaeochromocytoma
-
Maher ER, Eng C 2002 The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet 11:2347-2354
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2347-2354
-
-
Maher, E.R.1
Eng, C.2
-
3
-
-
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 A, Taschner PE, Rubinstein WS, Myers EN, Richard 3rd CW, Cornelisse CJ, Devilee P, Devlin B 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 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 III, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
4
-
-
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 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 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
-
5
-
-
4644256817
-
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
-
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575-1579
-
(1996)
JAMA
, vol.276
, pp. 1575-1579
-
-
Eng, C.1
Clayton, D.2
Schuffenecker, I.3
Lenoir, G.4
Cote, G.5
Gagel, R.F.6
Van Amstel, 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..
-
6
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317-1320
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
Tory, K.2
Gnarra, J.3
Yao, M.4
Duh, F.M.5
Orcutt, M.L.6
Stackhouse, T.7
Kuzmin, I.8
Modi, W.9
Geil, L.10
-
7
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
Niemann S, Muller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Muller, U.2
-
8
-
-
18344381765
-
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
-
Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery 3rd WH, Myers EN, Ferrell RE, Rubinstein WS 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39:178-183
-
(2002)
J Med Genet
, 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
Ferrell, R.E.11
Rubinstein, W.S.12
-
9
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, 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, Peczkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group 2002 Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Bausch, B.2
McWhinney, S.R.3
Bender, B.U.4
Gimm, O.5
Franke, G.6
Schipper, J.7
Klisch, J.8
Altehoefer, C.9
Zerres, K.10
Januszewicz, A.11
Smith, W.M.12
Munk, R.13
Manz, T.14
Glaesker, S.15
Apel, T.W.16
Treier, M.17
Reineke, M.18
Walz, M.K.19
Hoang-Vu, C.20
Brauckhoff, M.21
Klein-Franke, A.22
Klose, P.23
Schmidt, H.24
Maier-Woelfle, M.25
Peczkowska, M.26
Szmigielski, C.27
Eng, C.28
more..
-
10
-
-
0034803010
-
Phenotypic dichotomy in mitochondrial complex II genetic disorders
-
Baysal BE, Rubinstein WS, Taschner PE 2001 Phenotypic dichotomy in mitochondrial complex II genetic disorders. J Mol Med 79:495-503
-
(2001)
J Mol Med
, vol.79
, pp. 495-503
-
-
Baysal, B.E.1
Rubinstein, W.S.2
Taschner, P.E.3
-
11
-
-
0242391866
-
SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology
-
Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ 2003 SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol 201:480-486
-
(2003)
J Pathol
, vol.201
, pp. 480-486
-
-
Douwes Dekker, P.B.1
Hogendoorn, P.C.2
Kuipers-Dijkshoorn, N.3
Prins, F.A.4
Van Duinen, S.G.5
Taschner, P.E.6
Van Der Mey, A.G.7
Cornelisse, C.J.8
-
12
-
-
0036712593
-
Hereditary paraganglioma targets diverse paraganglia
-
Baysal BE 2002 Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39:617-622
-
(2002)
J Med Genet
, vol.39
, pp. 617-622
-
-
Baysal, B.E.1
-
13
-
-
0037307412
-
A novel mutation in the SDHD gene in a family with inherited paragangliomas - Implications of genetic diagnosis for follow up and treatment
-
Renard L, Godfraind C, Boon LM, Vikkula M 2003 A novel mutation in the SDHD gene in a family with inherited paragangliomas - implications of genetic diagnosis for follow up and treatment. Head Neck 25:146-151
-
(2003)
Head Neck
, vol.25
, pp. 146-151
-
-
Renard, L.1
Godfraind, C.2
Boon, L.M.3
Vikkula, M.4
-
14
-
-
9144249602
-
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
-
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C 2004 Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74:153-159
-
(2004)
Am J Hum Genet
, vol.74
, pp. 153-159
-
-
Vanharanta, S.1
Buchta, M.2
McWhinney, S.R.3
Virta, S.K.4
Peczkowska, M.5
Morrison, C.D.6
Lehtonen, R.7
Januszewicz, A.8
Jarvinen, H.9
Juhola, M.10
Mecklin, J.P.11
Pukkala, E.12
Herva, R.13
Kiuru, M.14
Nupponen, N.N.15
Aaltonen, L.A.16
Neumann, H.P.17
Eng, C.18
-
15
-
-
0034999087
-
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
-
Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer 31:255-263
-
(2001)
Genes Chromosomes Cancer
, vol.31
, pp. 255-263
-
-
Badenhop, R.F.1
Cherian, S.2
Lord, R.S.3
Baysal, B.E.4
Taschner, P.E.5
Schofield, P.R.6
-
16
-
-
0036501592
-
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
-
Roesch K, Curran SP, Tranebjaerg L, Koehler CM 2002 Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 11:477-486
-
(2002)
Hum Mol Genet
, vol.11
, pp. 477-486
-
-
Roesch, K.1
Curran, S.P.2
Tranebjaerg, L.3
Koehler, C.M.4
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