-
1
-
-
78650503110
-
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome
-
doi:10.1001/jama.2010.1877
-
Bennett KL, Mester J & Eng C 2010 Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. Journal of the American Medical Association 304 2724-2731. (doi:10.1001/jama.2010.1877)
-
(2010)
Journal of the American Medical Association
, vol.304
, pp. 2724-2731
-
-
Bennett, K.L.1
Mester, J.2
Eng, C.3
-
2
-
-
79958071323
-
Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma
-
doi:10.1002/gcc.20887
-
Bennett KL, Campbell R, Ganapathi S, Zhou M, Rini B, Ganapathi R, Neumann HP & Eng C 2011 Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma. Genes, Chromosomes & Cancer 50 654-661. (doi:10.1002/gcc.20887)
-
(2011)
Genes, Chromosomes & Cancer
, vol.50
, pp. 654-661
-
-
Bennett, K.L.1
Campbell, R.2
Ganapathi, S.3
Zhou, M.4
Rini, B.5
Ganapathi, R.6
Neumann, H.P.7
Eng, C.8
-
4
-
-
36749099083
-
Papillary renal cell carcinoma
-
Eds JN Eble, G Sauter, JI Epstein & IA Sesterhenn. Lyon, France: IARC Press
-
Delahunt B & Eble JN 2004 Papillary renal cell carcinoma. In Pathology and genetics of tumours of the urinary systemand male genital organs. World Health Organization Classification of Tumours, pp 27-29. Eds JN Eble, G Sauter, JI Epstein & IA Sesterhenn. Lyon, France: IARC Press.
-
(2004)
Pathology and Genetics of Tumours of the Urinary Systemand Male Genital Organs. World Health Organization Classification of Tumours
, pp. 27-29
-
-
Delahunt, B.1
Eble, J.N.2
-
5
-
-
0028587585
-
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in nonfamilial clear cell renal carcinoma
-
doi:10.1093/hmg/3.12.2169
-
Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek MM, Crossey PA, Richards FM, Cairns P, Affara NA, Ferguson- Smith MA et al. 1994 Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in nonfamilial clear cell renal carcinoma. Human Molecular Genetics 3 2169-2173. (doi:10.1093/hmg/3.12.2169)
-
(1994)
Human Molecular Genetics
, vol.3
, pp. 2169-2173
-
-
Foster, K.1
Prowse, A.2
Van Den Berg, A.3
Fleming, S.4
Hulsbeek, M.M.5
Crossey, P.A.6
Richards, F.M.7
Cairns, P.8
Affara, N.A.9
Ferguson-Smith, M.A.10
-
6
-
-
80053373522
-
Renal tumors associated with germline SDHB mutation show distinctive morphology
-
doi:10.1097/PAS.0b013e318227e7f4
-
Gill AJ, Pachter NS, Chou A, Young B, Clarkson A, Tucker KM, Winship IM, Earls P, Benn DE, Robinson BG et al. 2011a Renal tumors associated with germline SDHB mutation show distinctive morphology. American Journal of Surgical Pathology 35 1578-1585. (doi:10.1097/PAS.0b013e318227e7f4)
-
(2011)
American Journal of Surgical Pathology
, vol.35
, pp. 1578-1585
-
-
Gill, A.J.1
Pachter, N.S.2
Chou, A.3
Young, B.4
Clarkson, A.5
Tucker, K.M.6
Winship, I.M.7
Earls, P.8
Benn, D.E.9
Robinson, B.G.10
-
7
-
-
79952273689
-
Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4
-
doi:10.1056/NEJMc1012357
-
Gill AJ, Pachter NS, Clarkson A, Tucker KM, Winship IM, Benn DE, Robinson BG & Clifton-Bligh RJ 2011b Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome type 4. New England Journal of Medicine 364 885-886. (doi:10.1056/NEJMc1012357)
-
(2011)
New England Journal of Medicine
, vol.364
, pp. 885-886
-
-
Gill, A.J.1
Pachter, N.S.2
Clarkson, A.3
Tucker, K.M.4
Winship, I.M.5
Benn, D.E.6
Robinson, B.G.7
Clifton-Bligh, R.J.8
-
8
-
-
33847123769
-
Clear cell renal cell carcinoma
-
Eds JN Eble, G Sauter, JI Epstein & IA Sesterhenn. Lyon, France: IARC Press
-
Grignon DJ, Eble JN, Bonsib SM & Moch H 2004 Clear cell renal cell carcinoma. In Pathology and genetics of tumours of the urinary system and male genital organs. World Health Organization Classification of Tumours, pp 27-29. Eds JN Eble, G Sauter, JI Epstein & IA Sesterhenn. Lyon, France: IARC Press.
-
(2004)
Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs. World Health Organization Classification of Tumours
, pp. 27-29
-
-
Grignon, D.J.1
Eble, J.N.2
Bonsib, S.M.3
Moch, H.4
-
9
-
-
0036909242
-
Clinical and genetic studies of Birt-Hogg-Dube syndrome
-
doi:10.1136/jmg.39.12.906
-
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Levy R et al. 2002 Clinical and genetic studies of Birt-Hogg-Dube syndrome. Journal of Medical Genetics 39 906-912. (doi:10.1136/jmg.39.12.906)
-
(2002)
Journal of Medical Genetics
, vol.39
, pp. 906-912
-
-
Khoo, S.K.1
Giraud, S.2
Kahnoski, K.3
Chen, J.4
Motorna, O.5
Nickolov, R.6
Binet, O.7
Lambert, D.8
Friedel, J.9
Levy, R.10
-
10
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
doi:10.1126/science.8493574
-
Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L et al. 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260 1317-1320. (doi:10.1126/science.8493574)
-
(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
-
11
-
-
0037709883
-
Von Hippel-Lindau disease
-
doi:10.1016/S0140- 6736(03)13643-4
-
Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM & Oldfield EH 2003 von Hippel-Lindau disease. Lancet 361 2059-2067. (doi:10.1016/S0140- 6736(03)13643-4)
-
(2003)
Lancet
, vol.361
, pp. 2059-2067
-
-
Lonser, R.R.1
Glenn, G.M.2
Walther, M.3
Chew, E.Y.4
Libutti, S.K.5
Linehan, W.M.6
Oldfield, E.H.7
-
12
-
-
79956317112
-
Von Hippel-Lindau disease: A clinical and scientific review
-
doi:10.1038/ejhg.2010.175
-
Maher ER, Neumann HP & Richard S 2011 von Hippel-Lindau disease: a clinical and scientific review. European Journal of Human Genetics 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
-
13
-
-
0031042949
-
Renal cysts, renal cancer and von Hippel-Lindau disease
-
doi:10.1038/ki.1997.3
-
Neumann HP & Zbar B 1997 Renal cysts, renal cancer and von Hippel-Lindau disease. Kidney International 51 16-26. (doi:10.1038/ki.1997.3)
-
(1997)
Kidney International
, vol.51
, pp. 16-26
-
-
Neumann, H.P.1
Zbar, B.2
-
14
-
-
0032322491
-
Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma
-
doi:10.1016/S0022-5347(01)62509-6
-
Neumann HP, Bender BU, Berger DP, Laubenberger J, Schultze-Seemann W, Wetterauer U, Ferstl FJ, Herbst EW, Schwarzkopf G, Hes FJ et al. 1998 Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. Journal of Urology 160 1248-1254. (doi:10.1016/S0022-5347(01)62509-6)
-
(1998)
Journal of Urology
, vol.160
, pp. 1248-1254
-
-
Neumann, H.P.1
Bender, B.U.2
Berger, D.P.3
Laubenberger, J.4
Schultze-Seemann, W.5
Wetterauer, U.6
Ferstl, F.J.7
Herbst, E.W.8
Schwarzkopf, G.9
Hes, F.J.10
-
15
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
doi:10.1056/NEJMoa020152
-
Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K et al. 2002 Germ-line mutations in nonsyndromic pheochromocytoma. New England Journal of Medicine 346 1459-1466. (doi:10.1056/NEJMoa020152)
-
(2002)
New England Journal of Medicine
, 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
-
16
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
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 et al. 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Journal of the American Medical Association 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
-
17
-
-
48249113935
-
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes
-
doi:10.1016/j. ajhg.2008.07.011
-
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA & Eng C 2008 Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American Journal of Human Genetics 83 261-268. (doi:10.1016/j. ajhg.2008.07.011)
-
(2008)
American Journal of Human Genetics
, vol.83
, pp. 261-268
-
-
Ni, Y.1
Zbuk, K.M.2
Sadler, T.3
Patocs, A.4
Lobo, G.5
Edelman, E.6
Platzer, P.7
Orloff, M.S.8
Waite, K.A.9
Eng, C.10
-
18
-
-
84855368618
-
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53
-
doi:10.1093/hmg/ddr459
-
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD & Eng C 2012 Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Human Molecular Genetics 21 300-310. (doi:10.1093/hmg/ddr459)
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 300-310
-
-
Ni, Y.1
He, X.2
Chen, J.3
Moline, J.4
Mester, J.5
Orloff, M.S.6
Ringel, M.D.7
Eng, C.8
-
19
-
-
2342583527
-
Searching for the hereditary causes of renal-cell carcinoma
-
doi:10.1038/nrc1364
-
Pavlovich CP & Schmidt LS 2004 Searching for the hereditary causes of renal-cell carcinoma. Nature Reviews. Cancer 4 381-393. (doi:10.1038/nrc1364)
-
(2004)
Nature Reviews. Cancer
, vol.4
, pp. 381-393
-
-
Pavlovich, C.P.1
Schmidt, L.S.2
-
20
-
-
38549134313
-
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
-
doi:10.1038/ncpendmet0726
-
Peczkowska M, Cascon A, Prejbisz A, Kubaszek A, Cwikla BJ, Furmanek M, Erlic Z, Eng C, Januszewicz A & Neumann HP 2008 Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nature Clinical Practice. Endocrinology & Metabolism 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
Cwikla, B.J.5
Furmanek, M.6
Erlic, Z.7
Eng, C.8
Januszewicz, A.9
Neumann, H.P.10
-
21
-
-
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 2008 Germline SDHB mutations and familial renal cell carcinoma. Journal of the National Cancer Institute 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
-
22
-
-
27244446452
-
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
-
doi:10.1001/jama. 294.16.2057
-
Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM et al. 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. Journal of the American Medical Association 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
Peczkowska, M.4
Gomez, C.F.5
Strassburg, T.6
Pawlu, C.7
Buchta, M.8
Salzmann, M.9
Hoffmann, M.M.10
-
23
-
-
17344381429
-
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
-
doi:10.1038/ng0597-68
-
Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M et al. 1997 Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nature Genetics 16 68-73. (doi:10.1038/ng0597-68)
-
(1997)
Nature Genetics
, vol.16
, pp. 68-73
-
-
Schmidt, L.1
Duh, F.M.2
Chen, F.3
Kishida, T.4
Glenn, G.5
Choyke, P.6
Scherer, S.W.7
Zhuang, Z.8
Lubensky, I.9
Dean, M.10
-
24
-
-
0034821623
-
Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2
-
doi:10.1086/323744
-
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S et al. 2001 Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. American Journal of Human Genetics 69 876-882. (doi:10.1086/323744)
-
(2001)
American Journal of Human Genetics
, vol.69
, pp. 876-882
-
-
Schmidt, L.S.1
Warren, M.B.2
Nickerson, M.L.3
Weirich, G.4
Matrosova, V.5
Toro, J.R.6
Turner, M.L.7
Duray, P.8
Merino, M.9
Hewitt, S.10
-
25
-
-
4544306559
-
Early onset hereditary papillary renal carcinoma: Germline missense mutations in the tyrosine kinase domain of the met protooncogene
-
doi:10.1097/01.ju.0000139583.63354.e0
-
Schmidt LS, Nickerson ML, Angeloni D, Glenn GM, Walther MM, Albert PS, Warren MB, Choyke PL, Torres-Cabala CA, Merino MJ et al. 2004 Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met protooncogene. Journal of Urology 172 1256-1261. (doi:10.1097/01.ju.0000139583.63354.e0)
-
(2004)
Journal of Urology
, vol.172
, pp. 1256-1261
-
-
Schmidt, L.S.1
Nickerson, M.L.2
Angeloni, D.3
Glenn, G.M.4
Walther, M.M.5
Albert, P.S.6
Warren, M.B.7
Choyke, P.L.8
Torres-Cabala, C.A.9
Merino, M.J.10
-
26
-
-
0028235907
-
Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas
-
Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, Nagashima Y, Kitamura H, Latif F, Zbar B et al. 1994 Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Research 54 2852-2855.
-
(1994)
Cancer Research
, vol.54
, pp. 2852-2855
-
-
Shuin, T.1
Kondo, K.2
Torigoe, S.3
Kishida, T.4
Kubota, Y.5
Hosaka, M.6
Nagashima, Y.7
Kitamura, H.8
Latif, F.9
Zbar, B.10
-
27
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
doi:10. 1038/ng849
-
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S et al. 2002 Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nature Genetics 30 406-410. (doi:10. 1038/ng849)
-
(2002)
Nature Genetics
, vol.30
, pp. 406-410
-
-
Tomlinson, I.P.1
Alam, N.A.2
Rowan, A.J.3
Barclay, E.4
Jaeger, E.E.5
Kelsell, D.6
Leigh, I.7
Gorman, P.8
Lamlum, H.9
Rahman, S.10
-
28
-
-
9144249602
-
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
-
doi:10.1086/381054
-
Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M et al. 2004 Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. American Journal of Human Genetics 74 153-159. (doi:10.1086/381054)
-
(2004)
American Journal of Human Genetics
, 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
-
29
-
-
16144365122
-
Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
-
doi:10.1002/(SICI)1098-1004(1996)8:4〈348::AID-HUMU8〉3.0.CO;2-3
-
Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA et al. 1996 Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Human Mutation 8 348-357. (doi:10.1002/(SICI)1098-1004(1996)8: 4〈348::AID-HUMU8〉3.0.CO;2-3)
-
(1996)
Human Mutation
, vol.8
, pp. 348-357
-
-
Zbar, B.1
Kishida, T.2
Chen, F.3
Schmidt, L.4
Maher, E.R.5
Richards, F.M.6
Crossey, P.A.7
Webster, A.R.8
Affara, N.A.9
Ferguson-Smith, M.A.10
|