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124 results

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Page 1
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ. Merryweather-Clarke AT, et al. Among authors: rochette j. Hum Mol Genet. 2003 Sep 1;12(17):2241-7. doi: 10.1093/hmg/ddg225. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915468
Geography of HFE C282Y and H63D mutations.
Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Merryweather-Clarke AT, et al. Among authors: rochette j. Genet Test. 2000;4(2):183-98. doi: 10.1089/10906570050114902. Genet Test. 2000. PMID: 10953959
Recent advances in understanding haemochromatosis: a transition state.
Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, Weatherall DJ, Rochette J. Robson KJ, et al. Among authors: rochette j. J Med Genet. 2004 Oct;41(10):721-30. doi: 10.1136/jmg.2004.020644. J Med Genet. 2004. PMID: 15466004 Free PMC article. Review.
Multicentric origin of hemochromatosis gene (HFE) mutations.
Rochette J, Pointon JJ, Fisher CA, Perera G, Arambepola M, Arichchi DS, De Silva S, Vandwalle JL, Monti JP, Old JM, Merryweather-Clarke AT, Weatherall DJ, Robson KJ. Rochette J, et al. Am J Hum Genet. 1999 Apr;64(4):1056-62. doi: 10.1086/302318. Am J Hum Genet. 1999. PMID: 10090890 Free PMC article.
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, Roberts AG, Pointon JJ, Merryweather-Clarke AT, Bassett ML, Jouanolle AM, Mosser A, David V, Poulton J, Robson KJ. Livesey KJ, et al. Among authors: rochette j. J Med Genet. 2004 Jan;41(1):6-10. doi: 10.1136/jmg.2003.008805. J Med Genet. 2004. PMID: 14729817 Free PMC article.
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium.
Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ, Jouanolle AM, Mosser A, David V, Le Gall JY, Halsall DJ, Elsey TS, Kelly A, Cox TM, Clare M, Bomford A, Vandwalle JL, Rochette J, Borot N, Coppin H, Roth MP, Ryan E, Crowe J, Totaro A, Gasparini P, Roetto A, Walker AP, et al. Merryweather-Clarke AT, et al. Among authors: rochette j. Nat Genet. 1999 Nov;23(3):271. doi: 10.1038/15452. Nat Genet. 1999. PMID: 10545942 No abstract available.
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis.
Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix JP, Dautréaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJ, Rochette J. Cadet E, et al. Among authors: rochette j. J Intern Med. 2003 Feb;253(2):217-24. doi: 10.1046/j.1365-2796.2003.01094.x. J Intern Med. 2003. PMID: 12542563 Free article.
Clinical haemochromatosis in HFE mutation carriers.
Cox T, Rochette J, Camaschella C, Walker A, Robson K. Cox T, et al. Among authors: rochette j. Lancet. 2002 Aug 3;360(9330):412; discussion 413-4. doi: 10.1016/S0140-6736(02)09582-X. Lancet. 2002. PMID: 12241804 No abstract available.
124 results