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Items: 1 to 20 of 120

1.

Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.

Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP.

J Clin Endocrinol Metab. 2006 Aug;91(8):3071-5. Epub 2006 Jun 6.

PMID:
16757530
2.

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.

PMID:
12761039
3.

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

Chen YB, Brannon AR, Toubaji A, Dudas ME, Won HH, Al-Ahmadie HA, Fine SW, Gopalan A, Frizzell N, Voss MH, Russo P, Berger MF, Tickoo SK, Reuter VE.

Am J Surg Pathol. 2014 May;38(5):627-37. doi: 10.1097/PAS.0000000000000163.

4.

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.

5.

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
6.

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

Bardella C, El-Bahrawy M, Frizzell N, Adam J, Ternette N, Hatipoglu E, Howarth K, O'Flaherty L, Roberts I, Turner G, Taylor J, Giaslakiotis K, Macaulay VM, Harris AL, Chandra A, Lehtonen HJ, Launonen V, Aaltonen LA, Pugh CW, Mihai R, Trudgian D, Kessler B, Baynes JW, Ratcliffe PJ, Tomlinson IP, Pollard PJ.

J Pathol. 2011 Sep;225(1):4-11. doi: 10.1002/path.2932. Epub 2011 Jun 1.

PMID:
21630274
7.

Increased risk of cancer in patients with fumarate hydratase germline mutation.

Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA.

J Med Genet. 2006 Jun;43(6):523-6. Epub 2005 Sep 9.

8.

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.

9.

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.

10.

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.

11.

Absence of activating mutations in the hot spots of the LH receptor and Gs-alpha genes in Leydig cell tumors.

Vieira TC, Cerutti JM, Dias da Silva MR, Delcelo R, Abucham J.

J Endocrinol Invest. 2002 Jul-Aug;25(7):598-602.

PMID:
12150333
12.

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2014 May 1;23(9):2440-6. doi: 10.1093/hmg/ddt639. Epub 2013 Dec 13.

PMID:
24334767
13.

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

Harrison WJ, Andrici J, Maclean F, Madadi-Ghahan R, Farzin M, Sioson L, Toon CW, Clarkson A, Watson N, Pickett J, Field M, Crook A, Tucker K, Goodwin A, Anderson L, Srinivasan B, Grossmann P, Martinek P, Ondič O, Hes O, Trpkov K, Clifton-Bligh RJ, Dwight T, Gill AJ.

Am J Surg Pathol. 2016 May;40(5):599-607. doi: 10.1097/PAS.0000000000000573.

14.
15.

A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation.

Libé R, Fratticci A, Lahlou N, Jornayvaz FR, Tissier F, Louiset E, Guibourdenche J, Vieillefond A, Zerbib M, Bertherat J.

J Androl. 2012 Jul-Aug;33(4):578-84. doi: 10.2164/jandrol.111.013441. Epub 2011 Oct 20.

PMID:
22016347
16.

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.

Lehtonen R, Kiuru M, Vanharanta S, Sjöberg J, Aaltonen LM, Aittomäki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Järvinen H, Koivisto P, Mecklin JP, Peltomäki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA.

Am J Pathol. 2004 Jan;164(1):17-22.

17.

Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.

Joseph NM, Solomon DA, Frizzell N, Rabban JT, Zaloudek C, Garg K.

Am J Surg Pathol. 2015 Nov;39(11):1529-39. doi: 10.1097/PAS.0000000000000520.

PMID:
26457356
18.

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.

19.

Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.

Lehtonen HJ, Mäkinen MJ, Kiuru M, Laiho P, Herva R, van Minderhout I, Hogendoorn PC, Cornelisse C, Devilee P, Launonen V, Aaltonen LA.

Int J Cancer. 2007 Sep 15;121(6):1386-9.

20.

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

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