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The incidence of inherited porphyrias in Europe.
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. Elder G, et al. J Inherit Metab Dis. 2013 Sep;36(5):849-57. doi: 10.1007/s10545-012-9544-4. Epub 2012 Nov 1. J Inherit Metab Dis. 2013. PMID: 23114748
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Gouya L, et al. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11. Hum Genet. 2004. PMID: 14669009
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. Whatley SD, et al. Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18760763 Free PMC article.
Puy H, Gouya L, Deybach JC. Puy H, et al. Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5. Lancet. 2010. PMID: 20226990 Review.
Porphyrias: A 2015 update.
Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Karim Z, et al. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2. Clin Res Hepatol Gastroenterol. 2015. PMID: 26142871 Review.
[Hereditary porphyrias and heme related disorders].
Puy H, Gouya L, Deybach JC. Puy H, et al. Bull Acad Natl Med. 2014 Jun;198(6):1069-93. Bull Acad Natl Med. 2014. PMID: 26983187 French.
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. Chen B, et al. Among authors: deybach jc. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10. Genet Med. 2019. PMID: 31073229 Free PMC article.
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Schneider-Yin X, Hergersberg M, Goldgar DE, R├╝fenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI. Schneider-Yin X, et al. Hum Hered. 2002;54(2):69-81. doi: 10.1159/000067665. Hum Hered. 2002. PMID: 12566739
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC. Gouya L, et al. Am J Hum Genet. 2006 Jan;78(1):2-14. doi: 10.1086/498620. Epub 2005 Nov 15. Am J Hum Genet. 2006. PMID: 16385445 Free PMC article.
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