-
1
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
-
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002, 30:406-410
-
(2002)
Nat Genet
, 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
Roylance, R.R.11
Olpin, S.12
Bevan, S.13
Barker, K.14
Hearle, N.15
Houlston, R.S.16
Kiuru, M.17
Lehtonen, R.18
Karhu, A.19
Vilkki, S.20
Laiho, P.21
Eklund, C.22
Vierimaa, O.23
Aittomaki, K.24
Hietala, M.25
Sistonen, P.26
Paetau, A.27
Salovaara, R.28
Herva, R.29
Launonen, V.30
Aaltonen, L.A.31
more..
-
2
-
-
0035007528
-
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43
-
Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP, Houlston RS: Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet 2001, 68:1264-1269
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1264-1269
-
-
Alam, N.A.1
Bevan, S.2
Churchman, M.3
Barclay, E.4
Barker, K.5
Jaeger, E.E.6
Nelson, H.M.7
Healy, E.8
Pembroke, A.C.9
Friedmann, P.S.10
Dalziel, K.11
Calonje, E.12
Anderson, J.13
August, P.J.14
Davies, M.G.15
Felix, R.16
Munro, C.S.17
Murdoch, M.18
Rendall, J.19
Kennedy, S.20
Leigh, I.M.21
Kelsell, D.P.22
Tomlinson, I.P.23
Houlston, R.S.24
more..
-
3
-
-
0035853166
-
Inherited susceptibility to uterine leiomyomas and renal cell cancer
-
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA: Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001, 98:3387-3392
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 3387-3392
-
-
Launonen, V.1
Vierimaa, O.2
Kiuru, M.3
Isola, J.4
Roth, S.5
Pukkala, E.6
Sistonen, P.7
Herva, R.8
Aaltonen, L.A.9
-
4
-
-
0037102441
-
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families
-
Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA: Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res 2002, 62:4554-4557
-
(2002)
Cancer Res
, vol.62
, pp. 4554-4557
-
-
Kiuru, M.1
Lehtonen, R.2
Arola, J.3
Salovaara, R.4
Jarvinen, H.5
Aittomaki, K.6
Sjoberg, J.7
Visakorpi, T.8
Knuutila, S.9
Isola, J.10
Delahunt, B.11
Herva, R.12
Launonen, V.13
Karhu, A.14
Aaltonen, L.A.15
-
5
-
-
18544365098
-
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas
-
Barker KT, Bevan S, Wang R, Lu YJ, Flanagan AM, Bridge JA, Fisher C, Finlayson CJ, Shipley J, Houlston RS: Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer 2002, 67:446-448
-
(2002)
Br J Cancer
, vol.67
, pp. 446-448
-
-
Barker, K.T.1
Bevan, S.2
Wang, R.3
Lu, Y.J.4
Flanagan, A.M.5
Bridge, J.A.6
Fisher, C.7
Finlayson, C.J.8
Shipley, J.9
Houlston, R.S.10
-
6
-
-
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 III CW, Cornelisse CJ, Devilee P, Devlin B: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000, 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
-
7
-
-
0034671551
-
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
-
Gimm O, Armanios M, Dziema H, Neumann HP, Eng C: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000, 60:6822-6825
-
(2000)
Cancer Res
, vol.60
, pp. 6822-6825
-
-
Gimm, O.1
Armanios, M.2
Dziema, H.3
Neumann, H.P.4
Eng, C.5
-
8
-
-
18344381765
-
Prevalence of SDHB, SDHC 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 III WH, Myers EN, Ferrell RE, Rubinstein WS: Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 2002, 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
-
-
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
-
10
-
-
0035857957
-
Germline SDHD mutation in familial phaeochromocytoma
-
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 2001, 357:1181-1182
-
(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
-
11
-
-
19144371868
-
A genetic register for von Hippel-Lindau disease
-
Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DG: A genetic register for von Hippel-Lindau disease. J Med Genet 1996, 33:120-127
-
(1996)
J Med Genet
, vol.33
, pp. 120-127
-
-
Maddock, I.R.1
Moran, A.2
Maher, E.R.3
Teare, M.D.4
Norman, A.5
Payne, S.J.6
Whitehouse, R.7
Dodd, C.8
Lavin, M.9
Hartley, N.10
Super, M.11
Evans, D.G.12
-
12
-
-
0035956680
-
Uterine fibroids
-
Stewart EA: Uterine fibroids. Lancet 2001, 357:293-298
-
(2001)
Lancet
, vol.357
, pp. 293-298
-
-
Stewart, E.A.1
-
13
-
-
0031149594
-
Analysis of Ki-ras, p53, and MDM2 genes in uterine leiomyomas and leiomyosarcomas
-
Hall TM, Taylor RR, Lemon S, Ebina M, Linnoila RI, Norris JH, Park RC, Birrer MJ: Analysis of Ki-ras, p53, and MDM2 genes in uterine leiomyomas and leiomyosarcomas. Gynecol Oncol 1997, 65:330-335
-
(1997)
Gynecol Oncol
, vol.65
, pp. 330-335
-
-
Hall, T.M.1
Taylor, R.R.2
Lemon, S.3
Ebina, M.4
Linnoila, R.I.5
Norris, J.H.6
Park, R.C.7
Birrer, M.J.8
-
14
-
-
0026075490
-
Chromosome analysis of 96 uterine leiomyomas
-
Pandis N, Heim S, Bardi G, Floderus UM, Willen H, Mandahl N, Mitelman F: Chromosome analysis of 96 uterine leiomyomas. Cancer Genet Cytogenet 1991, 55:11-18
-
(1991)
Cancer Genet Cytogenet
, vol.55
, pp. 11-18
-
-
Pandis, N.1
Heim, S.2
Bardi, G.3
Floderus, U.M.4
Willen, H.5
Mandahl, N.6
Mitelman, F.7
-
15
-
-
0029147533
-
Molecular and cytogenetic analysis of chromosome 7 in uterine leiomyomas
-
Ishwad CS, Ferrell RE, Davare J, Meloni AM, Sandberg AA, Surti U: Molecular and cytogenetic analysis of chromosome 7 in uterine leiomyomas. Genes Chromosom Cancer 1995, 14:51-55
-
(1995)
Genes Chromosom Cancer
, vol.14
, pp. 51-55
-
-
Ishwad, C.S.1
Ferrell, R.E.2
Davare, J.3
Meloni, A.M.4
Sandberg, A.A.5
Surti, U.6
-
16
-
-
0032856432
-
Allelotype of uterine leiomyomas
-
Mao X, Barfoot R, Hamoudi RA, Easton DF, Flanagan AM, Stratton MR: Allelotype of uterine leiomyomas. Cancer Genet Cytogenet 1999, 114:89-95
-
(1999)
Cancer Genet Cytogenet
, vol.114
, pp. 89-95
-
-
Mao, X.1
Barfoot, R.2
Hamoudi, R.A.3
Easton, D.F.4
Flanagan, A.M.5
Stratton, M.R.6
-
17
-
-
0025059365
-
Complex chromosome rearrangements involving 12q14 in two uterine leiomyomas
-
Pandis N, Bardi G, Sfikas K, Panayotopoulos N, Tserkezoglou A, Fotiou S: Complex chromosome rearrangements involving 12q14 in two uterine leiomyomas. Cancer Genet Cytogenet 1990, 49:51-56
-
(1990)
Cancer Genet Cytogenet
, vol.49
, pp. 51-56
-
-
Pandis, N.1
Bardi, G.2
Sfikas, K.3
Panayotopoulos, N.4
Tserkezoglou, A.5
Fotiou, S.6
-
18
-
-
0034931602
-
Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomas
-
Mine N, Kurose K, Nagai H, Doi D, Ota Y, Yoneyama K, Konishi H, Araki T, Emi M: Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomas. J Hum Genet 2001, 46:408-412
-
(2001)
J Hum Genet
, vol.46
, pp. 408-412
-
-
Mine, N.1
Kurose, K.2
Nagai, H.3
Doi, D.4
Ota, Y.5
Yoneyama, K.6
Konishi, H.7
Araki, T.8
Emi, M.9
-
19
-
-
0033192556
-
HMGI(Y) and HMGI-C dysregulation: A common occurrence in human tumors
-
Tallini G, Dal Cin P: HMGI(Y) and HMGI-C dysregulation: a common occurrence in human tumors. Adv Anat Pathol 1999, 6:237-246
-
(1999)
Adv Anat Pathol
, vol.6
, pp. 237-246
-
-
Tallini, G.1
Dal Cin, P.2
-
20
-
-
0034746806
-
Evidence for RAD51L1/HMGIC fusion in the pathogenesis of uterine leiomyoma
-
Takahashi T, Nagai N, Oda H, Ohama K, Kamada N, Miyagawa K: Evidence for RAD51L1/HMGIC fusion in the pathogenesis of uterine leiomyoma. Genes Chromosom Cancer 2001, 30:196-201
-
(2001)
Genes Chromosom Cancer
, vol.30
, pp. 196-201
-
-
Takahashi, T.1
Nagai, N.2
Oda, H.3
Ohama, K.4
Kamada, N.5
Miyagawa, K.6
-
21
-
-
0037444280
-
Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15
-
Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC: Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. Cancer Res 2003, 63:1351-1358
-
(2003)
Cancer Res
, vol.63
, pp. 1351-1358
-
-
Quade, B.J.1
Weremowicz, S.2
Neskey, D.M.3
Vanni, R.4
Ladd, C.5
Dal Cin, P.6
Morton, C.C.7
-
22
-
-
0031059134
-
HMGI(Y) expression in human uterine leiomyomata. Involvement of another high-mobility group architectural factor in a benign neoplasm
-
Williams AJ, Powell WL, Collins T, Morton CC: HMGI(Y) expression in human uterine leiomyomata. Involvement of another high-mobility group architectural factor in a benign neoplasm. Am J Pathol 1997, 150:911-918
-
(1997)
Am J Pathol
, vol.150
, pp. 911-918
-
-
Williams, A.J.1
Powell, W.L.2
Collins, T.3
Morton, C.C.4
-
23
-
-
0032883699
-
Expression of HMGIY in three uterine leiomyomata with complex rearrangements of chromosome 6
-
Sornberger KS, Weremowicz S, Williams AJ, Quade BJ, Ligon AH, Pedeutour F, Vanni R, Morton CC: Expression of HMGIY in three uterine leiomyomata with complex rearrangements of chromosome 6. Cancer Genet Cytogenet 1999, 114:9-16
-
(1999)
Cancer Genet Cytogenet
, vol.114
, pp. 9-16
-
-
Sornberger, K.S.1
Weremowicz, S.2
Williams, A.J.3
Quade, B.J.4
Ligon, A.H.5
Pedeutour, F.6
Vanni, R.7
Morton, C.C.8
-
24
-
-
0033664228
-
Advances in uterine leiomyoma research: Conference overview, summary, and future research recommendations
-
Newbold RR, DiAugustine RP, Risinger JI, Everitt JI, Walmer DK, Parrott EC, Dixon D: Advances in uterine leiomyoma research: conference overview, summary, and future research recommendations. Environ Health Perspect 2000, 108(Suppl 5):S769-S773
-
(2000)
Environ Health Perspect
, vol.108
, Issue.SUPPL. 5
-
-
Newbold, R.R.1
DiAugustine, R.P.2
Risinger, J.I.3
Everitt, J.I.4
Walmer, D.K.5
Parrott, E.C.6
Dixon, D.7
-
25
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC: Mitochondrial diseases in man and mouse. Science 1999, 283:1482-1488
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
26
-
-
0035882029
-
High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas
-
Liu VW, Shi HH, Cheung AN, Chiu PM, Leung TW, Nagley P, Wong LC, Ngan HY: High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas. Cancer Res 2001, 61:5998-6001
-
(2001)
Cancer Res
, vol.61
, pp. 5998-6001
-
-
Liu, V.W.1
Shi, H.H.2
Cheung, A.N.3
Chiu, P.M.4
Leung, T.W.5
Nagley, P.6
Wong, L.C.7
Ngan, H.Y.8
-
27
-
-
0035886843
-
Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates
-
Parrella P, Xiao Y, Fliss M, Sanchez-Cespedes M, Mazzarelli P, Rinaldi M, Nicol T, Gabrielson E, Cuomo C, Cohen D, Pandit S, Spencer M, Rabitti C, Fazio VM, Sidransky D: Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates. Cancer Res 2001, 61:7623-7626
-
(2001)
Cancer Res
, vol.61
, pp. 7623-7626
-
-
Parrella, P.1
Xiao, Y.2
Fliss, M.3
Sanchez-Cespedes, M.4
Mazzarelli, P.5
Rinaldi, M.6
Nicol, T.7
Gabrielson, E.8
Cuomo, C.9
Cohen, D.10
Pandit, S.11
Spencer, M.12
Rabitti, C.13
Fazio, V.M.14
Sidransky, D.15
-
28
-
-
0034643388
-
Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours
-
Yeh JJ, Lunetta KL, van Orsouw NJ, Moore Jr FD, Mutter GL, Vijg J, Dahia PL, Eng C: Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. Oncogene 2000, 19:2060-2066
-
(2000)
Oncogene
, vol.19
, pp. 2060-2066
-
-
Yeh, J.J.1
Lunetta, K.L.2
Van Orsouw, N.J.3
Moore Jr., F.D.4
Mutter, G.L.5
Vijg, J.6
Dahia, P.L.7
Eng, C.8
-
29
-
-
0037364314
-
A role for mitochondrial enzymes in inherited neoplasia and beyond
-
Eng C, Kiuru M, Fernandez MJ, Aaltonen LA: A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 2003, 3:193-202
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 193-202
-
-
Eng, C.1
Kiuru, M.2
Fernandez, M.J.3
Aaltonen, L.A.4
-
30
-
-
0034849758
-
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology
-
Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA: Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 2001, 159: 825-829
-
(2001)
Am J Pathol
, vol.159
, pp. 825-829
-
-
Kiuru, M.1
Launonen, V.2
Hietala, M.3
Aittomaki, K.4
Vierimaa, O.5
Salovaara, R.6
Arola, J.7
Pukkala, E.8
Sistonen, P.9
Herva, R.10
Aaltonen, L.A.11
-
31
-
-
0035522894
-
Two genetic hits (more or less) to cancer
-
Knudson AG: Two genetic hits (more or less) to cancer. Nat Rev Cancer 2001, 1:157-162
-
(2001)
Nat Rev Cancer
, vol.1
, pp. 157-162
-
-
Knudson, A.G.1
-
32
-
-
9744274633
-
No fumarate hydratase (FH) mutations in hereditary prostate cancer
-
Lehtonen R, Kiuru M, Rokman A, Ikonen T, Cunningham JM, Schaid DJ, Matikainen M, Nupponen NN, Karhu A, Kallioniemi OP, Thibodeau SN, Schleutker J, Aaltonen LA: No fumarate hydratase (FH) mutations in hereditary prostate cancer. J Med Genet 2003, 40:e19:1-5
-
(2003)
J Med Genet
, vol.40
-
-
Lehtonen, R.1
Kiuru, M.2
Rokman, A.3
Ikonen, T.4
Cunningham, J.M.5
Schaid, D.J.6
Matikainen, M.7
Nupponen, N.N.8
Karhu, A.9
Kallioniemi, O.P.10
Thibodeau, S.N.11
Schleutker, J.12
Aaltonen, L.A.13
-
33
-
-
0033849571
-
Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization
-
Levy B, Mukherjee T, Hirschhorn K: Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet 2000, 121:1-8
-
(2000)
Cancer Genet Cytogenet
, vol.121
, pp. 1-8
-
-
Levy, B.1
Mukherjee, T.2
Hirschhorn, K.3
-
34
-
-
0034999807
-
Denaturing high-performance liquid chromatography: A review
-
Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001, 17:439-474
-
(2001)
Hum Mutat
, vol.17
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
35
-
-
18244377693
-
Interpreting epidemiological research: Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1
-
Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E, Frank TS: Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 2001, 38:824-833
-
(2001)
J Med Genet
, vol.38
, pp. 824-833
-
-
Eng, C.1
Brody, L.C.2
Wagner, T.M.3
Devilee, P.4
Vijg, J.5
Szabo, C.6
Tavtigian, S.V.7
Nathanson, K.L.8
Ostrander, E.9
Frank, T.S.10
|