-
1
-
-
78650024234
-
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
-
Smit DL, Mensenkamp AR, Badeloe S, et al. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 2011; 79: 49-59.
-
(2011)
Clin Genet
, vol.79
, pp. 49-59
-
-
Smit, D.L.1
Mensenkamp, A.R.2
Badeloe, S.3
-
2
-
-
0037713729
-
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America
-
DOI 10.1086/376435
-
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. (Pubitemid 36793783)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.1
, pp. 95-106
-
-
Toro, J.R.1
Nickerson, M.L.2
Wei, M.-H.3
Warren, M.B.4
Glenn, G.M.5
Turner, M.L.6
Stewart, L.7
Duray, P.8
Tourre, O.9
Sharma, N.10
Choyke, P.11
Stratton, P.12
Merino, M.13
Walther, M.M.14
Linehan, W.M.15
Schmidt, L.S.16
Zbar, B.17
-
3
-
-
30744457565
-
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
-
DOI 10.1016/j.sna.2005.12.044
-
Wei MH, 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. (Pubitemid 43099991)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.1
, pp. 18-27
-
-
Wei, M.-H.1
Toure, O.2
Glenn, G.M.3
Pithukpakorn, M.4
Neckers, L.5
Stolle, C.6
Choyke, P.7
Grubb, R.8
Middelton, L.9
Turner, M.L.10
Walther, M.M.11
Merino, M.J.12
Zbar, B.13
Linehan, W.M.14
Toro, J.R.15
-
4
-
-
13444309137
-
Clinical features of multiple cutaneous and uterine leiomyomatosis: An underdiagnosed tumor syndrome
-
DOI 10.1001/archderm.141.2.199
-
Alam NA, Barclay E, Rowan AJ, et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 2005; 141: 199-206. (Pubitemid 40216262)
-
(2005)
Archives of Dermatology
, vol.141
, Issue.2
, pp. 199-206
-
-
Alam, N.A.1
Barclay, E.2
Rowan, A.J.3
Tyrer, J.P.4
Calonje, E.5
Manek, S.6
Kelsell, D.7
Leigh, I.8
Olpin, S.9
Tomlinson, I.P.M.10
-
5
-
-
0023472705
-
Ovarian steroid cell tumors (not otherwise specified). A clinicopathological analysis of 63 cases
-
DOI 10.1097/00000478-198711000-00002
-
Hayes MC, Scully RE. Ovarian steroid cell tumors (not otherwise specified). A clinicopathological analysis of 63 cases. Am J Surg Pathol 1987; 11: 835-45. (Pubitemid 18003393)
-
(1987)
American Journal of Surgical Pathology
, vol.11
, Issue.11
, pp. 835-845
-
-
Hayes, M.C.1
Scully, R.E.2
-
7
-
-
34748836454
-
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
-
DOI 10.1097/PAS.0b013e31804375b8, PII 0000047820071000000016
-
Merino MJ, Torres-Cabala C, Pinto P, Linehan WM. The morphological spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 2007; 31: 1578-85. (Pubitemid 47482473)
-
(2007)
American Journal of Surgical Pathology
, vol.31
, Issue.10
, pp. 1578-1585
-
-
Merino, M.J.1
Torres-Cabala, C.2
Pinto, P.3
Marston Linehan, W.4
-
8
-
-
34248336258
-
Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal Cancer
-
DOI 10.1016/j.juro.2007.01.155, PII S0022534707002935
-
Grubb RL 3rd, Franks ME, Toro J, et al. Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol 2007; 177: 2074-80. (Pubitemid 46735952)
-
(2007)
Journal of Urology
, vol.177
, Issue.6
, pp. 2074-2080
-
-
Grubb III, R.L.1
Franks, M.E.2
Toro, J.3
Middelton, L.4
Choyke, L.5
Fowler, S.6
Torres-Cabala, C.7
Glenn, G.M.8
Choyke, P.9
Merino, M.J.10
Zbar, B.11
Pinto, P.A.12
Srinivasan, R.13
Coleman, J.A.14
Linehan, W.M.15
-
9
-
-
21244452808
-
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: A clinical and molecular genetic investigation
-
DOI 10.1210/jc.2004-2377
-
Matyakhina L, Freedman RJ, Bourdeau I, et al. Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. J Clin Endocrinol Metab 2005; 90: 3773-9. (Pubitemid 41014354)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.6
, pp. 3773-3779
-
-
Matyakhina, L.1
Freedman, R.J.2
Bourdeau, I.3
Wei, M.-H.4
Stergiopoulos, S.G.5
Chidakel, A.6
Walther, M.7
Abu-Asab, M.8
Tsokos, M.9
Keil, M.10
Toro, J.11
Linehan, W.M.12
Stratakis, C.A.13
-
10
-
-
33747696434
-
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations
-
DOI 10.1210/jc.2006-0183
-
Carvajal-Carmona LG, Alan NA, Pollard PJ, et al. Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab 2006; 91: 3071-5. (Pubitemid 44271757)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.8
, pp. 3071-3075
-
-
Carvajal-Carmona, L.G.1
Alam, N.A.2
Pollard, P.J.3
Jones, A.M.4
Barclay, E.5
Wortham, N.6
Pignatelli, M.7
Freeman, A.8
Pomplun, S.9
Ellis, I.10
Poulsom, R.11
El-Bahrawy, M.A.12
Berney, D.M.13
Tomlinson, I.P.M.14
|