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Items: 1 to 20 of 269

1.

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V.

Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010.

PMID:
18503824
2.

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.

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.

Am J Hum Genet. 2003 Jul;73(1):95-106. Epub 2003 May 22.

3.

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH.

Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x.

PMID:
20618355
4.

Conventional renal cancer in a patient with fumarate hydratase mutation.

Lehtonen HJ, Blanco I, Piulats JM, Herva R, Launonen V, Aaltonen LA.

Hum Pathol. 2007 May;38(5):793-6. Epub 2007 Jan 31.

PMID:
17270241
5.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

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.

Hum Mol Genet. 2003 Jun 1;12(11):1241-52.

6.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network.

J Med Genet. 2011 Apr;48(4):226-34. doi: 10.1136/jmg.2010.085068. Epub 2011 Mar 12. Erratum in: J Med Genet. 2011 Aug;48(8):576.

PMID:
21398687
7.

Hereditary leiomyomatosis and renal cell cancer (HLRCC).

Kiuru M, Launonen V.

Curr Mol Med. 2004 Dec;4(8):869-75. Review.

PMID:
15579034
8.

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R.

Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2.

PMID:
20091131
9.

Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).

Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R.

Ann Hum Genet. 2008 Jan;72(Pt 1):35-40. Epub 2006 Oct 1.

10.

Morphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndrome.

Sanz-Ortega J, Vocke C, Stratton P, Linehan WM, Merino MJ.

Am J Surg Pathol. 2013 Jan;37(1):74-80. doi: 10.1097/PAS.0b013e31825ec16f.

11.

No germline FH mutations in familial breast cancer patients.

Kiuru M, Lehtonen R, Eerola H, Aittomäki K, Blomqvist C, Nevanlinna H, Aaltonen LA, Launonen V.

Eur J Hum Genet. 2005 Apr;13(4):506-9.

12.

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.

Alam NA, Olpin S, Leigh IM.

Br J Dermatol. 2005 Jul;153(1):11-7. Review.

PMID:
16029320
13.

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.

Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR.

Arch Dermatol. 2008 Dec;144(12):1584-92. doi: 10.1001/archdermatol.2008.517.

14.

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

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.

J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.

15.

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

Ylisaukko-oja SK, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymañska A, Szymañska-Pasternak J, Dyrskjot L, Butzow R, Orntoft TF, Launonen V, Lubiñski J, Aaltonen LA.

Eur J Hum Genet. 2006 Jul;14(7):880-3. Epub 2006 Apr 26.

16.

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.

Koski TA, Lehtonen HJ, Jee KJ, Ninomiya S, Joosse SA, Vahteristo P, Kiuru M, Karhu A, Sammalkorpi H, Vanharanta S, Lehtonen R, Edgren H, Nederlof PM, Hietala M, Aittomäki K, Herva R, Knuutila S, Aaltonen LA, Launonen V.

Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663.

PMID:
19373782
17.
18.

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IP, Weaver T.

J Mol Diagn. 2005 Oct;7(4):437-43.

19.

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.

Merino MJ, Torres-Cabala C, Pinto P, Linehan WM.

Am J Surg Pathol. 2007 Oct;31(10):1578-85.

PMID:
17895761
20.
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