-
1
-
-
0035853166
-
Inherited susceptibility to uterine leiomyomas and renal cell cancer
-
Launonen V, Vierimaa O, Kiuru M, et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci. 2001;98:3387-3392.
-
(2001)
Proc Natl Acad Sci.
, vol.98
, pp. 3387-3392
-
-
Launonen, V.1
Vierimaa, O.2
Kiuru, M.3
-
2
-
-
0037713729
-
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America
-
Toro JR, Nickerson ML, Wei MH, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73:95-106.
-
(2003)
Am J Hum Genet.
, vol.73
, pp. 95-106
-
-
Toro, J.R.1
Nickerson, M.L.2
Wei, M.H.3
-
3
-
-
18544365990
-
Germline mutations in FH predispose to dominantly inherited uterine leiomyomas, skin leio-myomata and papillary renal cell cancer
-
Tomlinson IPM, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine leiomyomas, skin leio-myomata and papillary renal cell cancer. Nat Genet. 2002;30:406-410.
-
(2002)
Nat Genet.
, vol.30
, pp. 406-410
-
-
Ipm, T.1
Alam, N.A.2
Rowan, A.J.3
-
4
-
-
30744457565
-
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
-
Wei M-H, Toure O, Glenn GM, et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006; 43:18-27.
-
(2006)
J Med Genet.
, vol.43
, pp. 18-27
-
-
Wei, M.-H.1
Toure, O.2
Glenn, G.M.3
-
5
-
-
0000957469
-
About macroglossia and pathological formation of striated muscle fibers
-
Virchow R. About macroglossia and pathological formation of striated muscle fibers. Virchows Arch Pathol Anat. 1854;7:126-138.
-
(1854)
Virchows Arch Pathol Anat.
, vol.7
, pp. 126-138
-
-
Virchow, R.1
-
8
-
-
34248336258
-
Hereditary leiomyoma-tosis and renal cell cancer: A syndrome associated with an aggressive form of inherited renal cancer
-
Grubb RL 3rd, Franks ME, Toro J, et al. Hereditary leiomyoma-tosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol. 2007;177:2074-2079.
-
(2007)
J Urol.
, vol.177
, pp. 2074-2079
-
-
Grubb III, R.L.1
Franks, M.E.2
Toro, J.3
-
9
-
-
33745190319
-
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients
-
Ylisaukko-oja SK, Kiuru M, Lehtonen HJ, et al. Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. Int J Cancer. 2006;119: 283-287.
-
(2006)
Int J Cancer.
, vol.119
, pp. 283-287
-
-
Ylisaukko-Oja, S.K.1
Kiuru, M.2
Lehtonen, H.J.3
-
10
-
-
22944469759
-
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer
-
Alam NA, Leigh IM. Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. Br J Dermatol. 2005;153:11-17.
-
(2005)
Br J Dermatol.
, vol.153
, pp. 11-17
-
-
Alam, N.A.1
Leigh, I.M.2
-
11
-
-
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, et al. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer. 2002;87:446-448.
-
(2002)
Br J Cancer.
, vol.87
, pp. 446-448
-
-
Barker, K.T.1
Bevan, S.2
Wang, R.3
-
12
-
-
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, et al. 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
-
13
-
-
29644433861
-
Distinct expression profile in fumarate-hydratase-deficient uterine leiomyomas
-
Vanharanta S, Pollard PJ, Lehtonen HJ, et al. Distinct expression profile in fumarate-hydratase-deficient uterine leiomyomas. Hum Mol Genet. 2006;15:97-103.
-
(2006)
Hum Mol Genet.
, vol.15
, pp. 97-103
-
-
Vanharanta, S.1
Pollard, P.J.2
Lehtonen, H.J.3
-
14
-
-
34848921743
-
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer
-
Catherino WH, Mayers CM, Mantzouris T, et al. Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer. Fertil Steril. 2007;88:1039-1048.
-
(2007)
Fertil Steril.
, vol.88
, pp. 1039-1048
-
-
Catherino, W.H.1
Mayers, C.M.2
Mantzouris, T.3
-
15
-
-
4644342943
-
Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: Genetic linkage analysis and FISH studies
-
Gross KL, Panhuysen CI, Kleinman MS, et al. Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies. Genes Chromosomes Cancer. 2004;41:183-190.
-
(2004)
Genes Chromosomes Cancer.
, vol.41
, pp. 183-190
-
-
Gross, K.L.1
Panhuysen, C.I.2
Kleinman, M.S.3
-
16
-
-
23644448721
-
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
-
Isaacs JS, Mole DR, Torres-Cabala C, et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell. 2005;8:143-153.
-
(2005)
Cancer Cell.
, vol.8
, pp. 143-153
-
-
Isaacs, J.S.1
Mole, D.R.2
Torres-Cabala, C.3
-
17
-
-
0034849758
-
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology
-
Kiuru M, Launonen V, Hietala M, et al. 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
-
18
-
-
1542469716
-
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyo-mas but is rare in other tumors
-
Lehtonen R, Kiuru M, Vanharanta S, et al. Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyo-mas but is rare in other tumors. Am J Pathol. 2004;164:17-22.
-
(2004)
Am J Pathol.
, vol.164
, pp. 17-22
-
-
Lehtonen, R.1
Kiuru, M.2
Vanharanta, S.3
-
19
-
-
34548086488
-
Increased HIF1 in SDH and FH deficient tumors does not cause microsatellite instability
-
Lehtonen H, MSkinen MJ, Kiuru M, et al. Increased HIF1 in SDH and FH deficient tumors does not cause microsatellite instability. Int J Cancer. 2007;121:1386-1389.
-
(2007)
Int J Cancer.
, vol.121
, pp. 1386-1389
-
-
Lehtonen, H.1
Mskinen, M.J.2
Kiuru, M.3
-
20
-
-
4644239258
-
Genetic basis of cancer of the kidney: Disease-specific approaches to therapy
-
Linehan WM, Vasselli J, Srinivasan R, et al. Genetic basis of cancer of the kidney: disease-specific approaches to therapy. Clin Cancer Res. 2004;10:6282S-6289S.
-
(2004)
Clin Cancer Res
, vol.10
-
-
Linehan, W.M.1
Vasselli, J.2
Srinivasan, R.3
-
21
-
-
0141956454
-
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata
-
Martinez-Mir A, Glaser B, Chuang GS, et al. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol. 2003;121:741-744.
-
(2003)
J Invest Dermatol.
, vol.121
, pp. 741-744
-
-
Martinez-Mir, A.1
Glaser, B.2
Chuang, G.S.3
-
22
-
-
34748836454
-
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
-
Merino MJ, Torres-Cabala C, Pinto PA, et al. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol. 2007;31: 1578-1585.
-
(2007)
Am J Surg Pathol.
, vol.31
, pp. 1578-1585
-
-
Merino, M.J.1
Torres-Cabala, C.2
Pinto, P.A.3
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