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Items: 1 to 20 of 196

1.

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Chan MMY, Barnicoat A, Mumtaz F, Aitchison M, Side L, Brittain H, Bates AWH, Gale DP.

BMC Med Genet. 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1.

2.

Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

Trpkov K, Hes O, Agaimy A, Bonert M, Martinek P, Magi-Galluzzi C, Kristiansen G, Lüders C, Nesi G, Compérat E, Sibony M, Berney DM, Mehra R, Brimo F, Hartmann A, Husain A, Frizzell N, Hills K, Maclean F, Srinivasan B, Gill AJ.

Am J Surg Pathol. 2016 Jul;40(7):865-75. doi: 10.1097/PAS.0000000000000617.

PMID:
26900816
3.

Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.

Ezgu F, Krejci P, Wilcox WR.

Gene. 2013 Jul 25;524(2):403-6. doi: 10.1016/j.gene.2013.03.026. Epub 2013 Apr 20.

PMID:
23612258
4.
5.

Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.

Siegler L, Erber R, Burghaus S, Brodkorb T, Wachter D, Wilkinson N, Bolton J, Stringfellow H, Haller F, Beckmann MW, Hartmann A, Agaimy A.

Virchows Arch. 2018 May;472(5):789-796. doi: 10.1007/s00428-018-2292-6. Epub 2018 Jan 13.

PMID:
29332133
6.

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
7.

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
8.

Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.

Llamas-Velasco M, Requena L, Kutzner H, Schärer L, Rütten A, Hantschke M, Paredes BE, Mentzel T.

J Cutan Pathol. 2014 Nov;41(11):859-65. doi: 10.1111/cup.12396. Epub 2014 Nov 4.

PMID:
25292446
9.

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
10.

Molecular and biochemical investigations in fumarase deficiency.

Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S, Gellerich FN.

Mol Genet Metab. 2006 Jun;88(2):146-52. Epub 2006 Feb 28.

PMID:
16510303
11.

FH-deficient cancers depend on ABL1-mediated metabolic adaptation.

[No authors listed]

Cancer Discov. 2015 Feb;5(2):OF9. doi: 10.1158/2159-8290.CD-RW2014-257. Epub 2014 Dec 19. No abstract available.

12.
13.

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.

14.

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.

15.

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.

16.

Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.

Badeloe S, Frank J.

Eur J Dermatol. 2009 Nov-Dec;19(6):545-51. doi: 10.1684/ejd.2009.0749. Epub 2009 Jul 10. Review.

PMID:
19939761
17.
18.

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.

19.

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.

20.

Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.

Shyu I, Mirsadraei L, Wang X, Robila V, Mehra R, McHugh JB, Chen YB, Udager AM, Gill AJ, Cheng L, Amin MB, Lin O, Smith SC.

Cancer Cytopathol. 2018 Dec;126(12):992-1002. doi: 10.1002/cncy.22071. Epub 2018 Oct 19.

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