| 1 | FH, HLRCC, MCUL1
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| A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
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| Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B.
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| Dermatology 221(4):378-80. Epub 2010 Nov 5.
2010
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| 2 | HLRCC, FH
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| Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
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| Pithukpakorn M, Wei MH, Toure O, Steinbach PJ, Glenn GM, Zbar B, Linehan WM, Toro JR.
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| J Med Genet 43(9):755-62. Epub 2006 Apr 5. 2006
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| 3 | FH, MCUL1, HLRCC
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| Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
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| Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR.
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| J Med Genet 43(1):18-27. Epub 2005 Jun 3. 2006
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| 4 | FH, HLRCC
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| Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
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| Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymanska A, Szymanska-Pasternak J, Dyrskjot L, Butzow R, Orntoft TF, Launonen V, Lubinski J, Aaltonen LA.
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| Eur J Hum Genet 14(7):880-3. Epub 2006 Apr 26. 2006
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| 5 | MCUL1, HLRCC, FH
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| Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
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| Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA.
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| Clin Exp Dermatol 30(1):75-8. 2005
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| 6 | FH, MCUL1, HLRCC, FHD
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| Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
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| Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP.
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| Hum Mol Genet 12(11):1241-52. 2003
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| 7 | FH, MCUL1, HLRCC
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| Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
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| Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B.
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| Am J Hum Genet 73(1):95-106. Epub 2003 May 22. 2003
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| 8 | BHD, FPTC, HLRCC, MET
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| Familial adult renal neoplasia.
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| Takahashi M, Kahnoski R, Gross D, Nicol D, Teh BT.
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| J Med Genet 39(1):1-5. Review. 2002
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| 9 | FH, HLRCC, MCUL1
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| Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
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| 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.
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| Nat Genet 30(4):406-10. 2002
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| 10 | HLRCC, MCUL1,FH
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| Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.
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| Martinez-Mir A, Gordon D, Horev L, Klapholz L, Ott J, Christiano AM, Zlotogorski A.
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| J Invest Dermatol 118(5):876-80. 2002
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