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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
The molecular genetics of erythropoietic protoporphyria.
Elder GH, Gouya L, Whatley SD, Puy H, Badminton MN, Deybach JC. Elder GH, et al. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):118-26. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656460 Review.
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.
Whatley SD, Mason NG, Khan M, Zamiri M, Badminton MN, Missaoui WN, Dailey TA, Dailey HA, Douglas WS, Wainwright NJ, Elder GH. Whatley SD, et al. J Med Genet. 2004 Aug;41(8):e105. doi: 10.1136/jmg.2003.016121. J Med Genet. 2004. PMID: 15286165 Free PMC article. Clinical Trial. No abstract available.
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Whatley SD, et al. Br J Dermatol. 2010 Mar;162(3):642-6. doi: 10.1111/j.1365-2133.2010.09631.x. Epub 2010 Jan 22. Br J Dermatol. 2010. PMID: 20105171
One mutation (c.314 + 2T>G) was present in 41 (24%) of EPP families, most of whom appeared to be descended from a common ancestor resident in the north of England. ...
One mutation (c.314 + 2T>G) was present in 41 (24%) of EPP families, most of whom appeared to be descended from a common ancestor …
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.
Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. Holme SA, et al. Br J Dermatol. 2006 Sep;155(3):574-81. doi: 10.1111/j.1365-2133.2006.07472.x. Br J Dermatol. 2006. PMID: 16911284 Clinical Trial.
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.
Llewellyn DH, Elder GH, Kalsheker NA, Marsh OW, Harrison PR, Grandchamp B, Picat C, Nordmann Y, Romeo PH, Goossens M. Llewellyn DH, et al. Lancet. 1987 Sep 26;2(8561):706-8. doi: 10.1016/s0140-6736(87)91073-7. Lancet. 1987. PMID: 2888941
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Holme SA, Whatley SD, Roberts AG, Anstey AV, Elder GH, Ead RD, Stewart MF, Farr PM, Lewis HM, Davies N, White MI, Ackroyd RS, Badminton MN. Holme SA, et al. J Invest Dermatol. 2009 Mar;129(3):599-605. doi: 10.1038/jid.2008.272. Epub 2008 Sep 11. J Invest Dermatol. 2009. PMID: 18787536
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.
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Holme SA, Worwood M, Anstey AV, Elder GH, Badminton MN. Holme SA, et al. Blood. 2007 Dec 1;110(12):4108-10. doi: 10.1182/blood-2007-04-088120. Epub 2007 Sep 5. Blood. 2007. PMID: 17804693 Clinical Trial.
Erythropoiesis was impaired in all patients; all had a downward shift in hemoglobin (Hb), and the mean decreased in males by 12 g/L (1.2 g/dL). ...
Erythropoiesis was impaired in all patients; all had a downward shift in hemoglobin (Hb), and the mean decreased in males by 12 g/L ( …
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
Goodwin RG, Kell WJ, Laidler P, Long CC, Whatley SD, McKinley M, Badminton MN, Burnett AK, Williams GT, Elder GH. Goodwin RG, et al. Blood. 2006 Jan 1;107(1):60-2. doi: 10.1182/blood-2004-12-4939. Epub 2005 Sep 8. Blood. 2006. PMID: 16150949
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