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Results: 1 to 20 of 235

Similar articles for PubMed (Select 12772087)

1.

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.

2.

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
3.

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.

4.

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.

5.

Hereditary leiomyomatosis and renal cell cancer (HLRCC).

Kiuru M, Launonen V.

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

PMID:
15579034
6.

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
7.

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
8.

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
9.
10.

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
11.

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
12.

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
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.

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.

15.

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP.

Arch Dermatol. 2005 Feb;141(2):199-206.

PMID:
15724016
16.

Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer.

Sudarshan S, Pinto PA, Neckers L, Linehan WM.

Nat Clin Pract Urol. 2007 Feb;4(2):104-10. Review.

PMID:
17287871
17.

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA.

Clin Exp Dermatol. 2005 Jan;30(1):75-8.

PMID:
15663510
18.

Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report.

Garg K, Tickoo SK, Soslow RA, Reuter VE.

Am J Surg Pathol. 2011 Aug;35(8):1235-7. doi: 10.1097/PAS.0b013e318223ca01.

PMID:
21753700
19.

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.

20.

A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).

Rongioletti F, Fausti V, Ferrando B, Parodi A, Mandich P, Pasini B.

Dermatology. 2010;221(4):378-80. doi: 10.1159/000321336. Epub 2010 Nov 5.

PMID:
21051878
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