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PubMed for id: 115

103 results

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Page 1
Fumarase deficiency in dichorionic diamniotic twins.
Tregoning S, Salter W, Thorburn DR, Durkie M, Panayi M, Wu JY, Easterbrook A, Coman DJ. Tregoning S, et al. Twin Res Hum Genet. 2013 Dec;16(6):1117-20. doi: 10.1017/thg.2013.72. Epub 2013 Nov 4. Twin Res Hum Genet. 2013. PMID: 24182348
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. Bardella C, et al. J Pathol. 2011 Sep;225(1):4-11. doi: 10.1002/path.2932. Epub 2011 Jun 1. J Pathol. 2011. PMID: 21630274
Structural basis of fumarate hydratase deficiency.
Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. Picaud S, et al. J Inherit Metab Dis. 2011 Jun;34(3):671-6. doi: 10.1007/s10545-011-9294-8. Epub 2011 Mar 29. J Inherit Metab Dis. 2011. PMID: 21445611 Free PMC article.
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. Gardie B, et al. J Med Genet. 2011 Apr;48(4):226-34. doi: 10.1136/jmg.2010.085068. Epub 2011 Mar 12. J Med Genet. 2011. PMID: 21398687 Free article.
Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.
Ashrafian H, O'Flaherty L, Adam J, Steeples V, Chung YL, East P, Vanharanta S, Lehtonen H, Nye E, Hatipoglu E, Miranda M, Howarth K, Shukla D, Troy H, Griffiths J, Spencer-Dene B, Yusuf M, Volpi E, Maxwell PH, Stamp G, Poulsom R, Pugh CW, Costa B, Bardella C, Di Renzo MF, Kotlikoff MI, Launonen V, Aaltonen L, El-Bahrawy M, Tomlinson I, Pollard PJ. Ashrafian H, et al. Cancer Res. 2010 Nov 15;70(22):9153-65. doi: 10.1158/0008-5472.CAN-10-1949. Epub 2010 Oct 26. Cancer Res. 2010. PMID: 20978192
103 results