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There are 117950 results for: content related to: Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

  1. Molecular characterization of erythropoietic protoporphyria in South Africa

    British Journal of Dermatology

    Volume 159, Issue 1, July 2008, Pages: 182–191, M. Parker, A.V. Corrigall, R.J. Hift and P.N. Meissner

    Version of Record online : 2 MAY 2008, DOI: 10.1111/j.1365-2133.2008.08580.x

  2. You have free access to this content
    Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

    Journal of Internal Medicine

    Volume 269, Issue 3, March 2011, Pages: 278–288, S. Wahlin, Y. Floderus, P. Stål and P. Harper

    Version of Record online : 13 MAR 2010, DOI: 10.1111/j.1365-2796.2010.02236.x

  3. Molecular epidemiology of erythropoietic protoporphyria in the U.K.

    British Journal of Dermatology

    Volume 162, Issue 3, March 2010, Pages: 642–646, S.D. Whatley, N.G. Mason, S.A. Holme, A.V. Anstey, G.H. Elder and M.N. Badminton

    Version of Record online : 22 JAN 2010, DOI: 10.1111/j.1365-2133.2010.09631.x

  4. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 6, June 2010, Pages: 726–729, J Ma, S Xiao, J An, X Wang, Q Xu, Y Dong, Y Feng and J Wang

    Version of Record online : 2 NOV 2009, DOI: 10.1111/j.1468-3083.2009.03471.x

  5. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

    British Journal of Dermatology

    Volume 160, Issue 6, June 2009, Pages: 1330–1334, M. Méndez, P. Poblete-Gutiérrez, M.-J. Morán-Jiménez, M.-E. Rodriguez, M.-C. Garrido-Astray, A. Fontanellas, J. Frank and R.E. De Salamanca

    Version of Record online : 9 MAR 2009, DOI: 10.1111/j.1365-2133.2009.09084.x

  6. Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene

    The Journal of Dermatology

    Volume 44, Issue 6, June 2017, Pages: 651–655, Hiromi Suzuki, Katsuko Kikuchi, Noriko Fukuhara, Hajime Nakano and Setsuya Aiba

    Version of Record online : 27 DEC 2016, DOI: 10.1111/1346-8138.13709

  7. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene

    British Journal of Dermatology

    Volume 174, Issue 1, January 2016, Pages: 172–175, M. Mizawa, T. Makino, H. Nakano, D. Sawamura and T. Shimizu

    Version of Record online : 7 NOV 2015, DOI: 10.1111/bjd.14078

  8. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

    British Journal of Dermatology

    Volume 157, Issue 5, November 2007, Pages: 1030–1031, L. Berroeta, I. Man, D.R. Goudie, S.D. Whatley, G.H. Elder and S.H. Ibbotson

    Version of Record online : 17 AUG 2007, DOI: 10.1111/j.1365-2133.2007.08117.x

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    Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden

    Journal of Internal Medicine

    Volume 269, Issue 3, March 2011, Pages: 270–274, J. Frank and P. Poblete-Gutiérrez

    Version of Record online : 14 NOV 2010, DOI: 10.1111/j.1365-2796.2010.02283.x

  10. New mutation identified in two sisters with adult-onset erythropoietic protoporphyria

    Clinical and Experimental Dermatology

    Volume 38, Issue 6, August 2013, Pages: 601–605, J. Azad, P. Brennan and A. J. Carmichael

    Version of Record online : 20 APR 2013, DOI: 10.1111/ced.12076

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    Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

    International Journal of Dermatology

    Volume 52, Issue 12, December 2013, Pages: 1464–1480, Mary E. Horner, Ali Alikhan, Suzanne Tintle, Silvia Tortorelli, Dawn Marie R. Davis and Jennifer L. Hand

    Version of Record online : 21 NOV 2013, DOI: 10.1111/ijd.12305

  12. Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria

    International Journal of Dermatology

    Volume 56, Issue 3, March 2017, Pages: 272–276, Uma Alagappan, Zacharias A. D. Pramono and Wei-Sheng Chong

    Version of Record online : 4 JAN 2017, DOI: 10.1111/ijd.13418

  13. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 84–88, E Di Pierro, V Brancaleoni, V Moriondo, V Besana and MD Cappellini

    Version of Record online : 14 DEC 2006, DOI: 10.1111/j.1399-0004.2007.00733.x

  14. Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer

    Clinical Genetics

    H. Kadara, G. Nemer, R. Safi, N. Rebeiz, L. Daou, D. Delbani, W. Btadini, O. Abbas, M. Tofaili, F. Bitar, A.G. Kibbi, Y. Shimomura and M. Kurban

    Version of Record online : 2 AUG 2017, DOI: 10.1111/cge.12968

  15. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma – reply

    British Journal of Dermatology

    Volume 161, Issue 4, October 2009, Pages: 966–967, S.A. Holme, A.V. Anstey, S.D. Whatley, G.H. Elder and M.N. Badminton

    Version of Record online : 10 AUG 2009, DOI: 10.1111/j.1365-2133.2009.09407.x

  16. Porphyrin and Heme Metabolism and the Porphyrias

    Standard Article

    Comprehensive Physiology

    Herbert L. Bonkovsky, Jun-Tao Guo, Weihong Hou, Ting Li, Tarun Narang and Manish Thapar

    Published Online : 1 JAN 2013, DOI: 10.1002/cphy.c120006

  17. Genetic study in a Singaporean patient with erythropoietic protoporphyria

    Photodermatology, Photoimmunology & Photomedicine

    Volume 28, Issue 5, October 2012, Pages: 269–271, Sai Yee Chuah, Shang-Ian Tee, Zacharias Aloysius Dwi Pramono and Colin Thiam Seng Theng

    Version of Record online : 12 SEP 2012, DOI: 10.1111/j.1600-0781.2012.00685.x

  18. Homeostasis of iron and hepcidin in erythropoietic protoporphyria

    European Journal of Clinical Investigation

    Volume 45, Issue 10, October 2015, Pages: 1032–1041, Krista Bossi, Jingyun Lee, Paul Schmeltzer, Eric Holburton, Gale Groseclose, Siddesh Besur, Sunil Hwang and Herbert L. Bonkovsky

    Version of Record online : 2 SEP 2015, DOI: 10.1111/eci.12503

  19. A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 11, November 2010, Pages: 1349–1353, EI Minder, X Schneider-Yin, R Mamet, L Horev, S Neuenschwander, A Baumer, F Austerlitz, H Puy and N Schoenfeld

    Version of Record online : 23 MAR 2010, DOI: 10.1111/j.1468-3083.2010.03640.x

  20. Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria

    The Journal of Dermatology

    Volume 33, Issue 9, September 2006, Pages: 603–608, Hiroshi SARUWATARI, Yuri UEKI, Shinichi YOTSUMOTO, Tokihiko SHIMADA, Seita FUKUMARU, Takuro KANEKURA and Tamotsu KANZAKI

    Version of Record online : 5 SEP 2006, DOI: 10.1111/j.1346-8138.2006.00140.x