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There are 2121 results for: content related to: Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene

  1. You have full text access to this Open Access content
    Evaluation of Serum Ferritin as a Tumor Marker for Canine Histiocytic Sarcoma

    Journal of Veterinary Internal Medicine

    Volume 24, Issue 4, July/August 2010, Pages: 904–911, K.R. Friedrichs, C. Thomas, M. Plier, G.A. Andrews, P.S. Chavey and K.M. Young

    Version of Record online : 18 JUN 2010, DOI: 10.1111/j.1939-1676.2010.0543.x

  2. Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family

    European Journal of Haematology

    Volume 87, Issue 3, September 2011, Pages: 274–278, Axel Rüfer, Jeremy P. Howell, Alex P. Lange, Raina Yamamoto, Julia Heuscher, Michael Gregor and Walter A. Wuillemin

    Version of Record online : 6 APR 2011, DOI: 10.1111/j.1600-0609.2011.01607.x

  3. You have free access to this content
    A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

    Human Mutation

    Volume 28, Issue 7, July 2007, Page: 742, Kathryn P. Burdon, Shiwani Sharma, Celia S. Chen, David P. Dimasi, David A. Mackey and Jamie E. Craig

    Version of Record online : 19 JUN 2007, DOI: 10.1002/humu.9501

  4. GDF15-mediated upregulation of ferroportin plays a key role in the development of hyperferritinemia in children with hemophagocytic lymphohistiocytosis

    Pediatric Blood & Cancer

    Volume 60, Issue 6, June 2013, Pages: 940–945, Jian-Rong Wu, Li-Xing Yuan, Zhi-Gui Ma, Xiao-Xi Chen, Ling Gu and Ju Gao

    Version of Record online : 17 JAN 2013, DOI: 10.1002/pbc.24373

  5. Analysis of HFE Genes C282Y, H63D, and S65D in Patients With Hyperferritinemia From Northeastern Brazil

    Journal of Clinical Laboratory Analysis

    Volume 28, Issue 3, May 2014, Pages: 178–185, Gioconda Dias Rodrigues Leão, Juliana Mendonça Freire, Andrea Luciana Araújo Cunha Fernandes, Taissa Maria Moura de Oliveira, Nilma Dias Leão, Erica Aires Gil, Roberto Chaves de Vasconcelos, João Paulo da Silva Azevedo, Valéria Soraya de Farias Sales, Telma Maria de Araújo Moura Lemos, Marcos Dias Leão, Francisco Fernandes do Nascimento Jr, James Farley Rafael Maciel, Rodrigo Villar de Freitas, Aldair de Souza Paiva and Geraldo Barroso Cavalcanti Jr.

    Version of Record online : 6 JAN 2014, DOI: 10.1002/jcla.21663

  6. Risk factors for hyperferritinemia secondary to red blood cell transfusions in pediatric cancer patients

    Pediatric Blood & Cancer

    Volume 60, Issue 10, October 2013, Pages: 1671–1675, Ali Amid, Nick Barrowman, Abi Vijenthira, Pat Lesser, Karen Mandel and Raveena Ramphal

    Version of Record online : 17 JUN 2013, DOI: 10.1002/pbc.24629

  7. You have full text access to this OnlineOpen article
    Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload

    Hepatology

    Volume 59, Issue 3, March 2014, Pages: 1204–1206, Dan Yin, Vasu Kulhalli and Ann P. Walker

    Version of Record online : 27 JAN 2014, DOI: 10.1002/hep.26681

  8. Hyperferritinemia in reactive hemophagocytic syndrome report of four adult cases

    American Journal of Hematology

    Volume 49, Issue 3, July 1995, Pages: 247–249, Dr. Prasad Rao Koduri, Godofredo Carandang, Patricia Demarais and Ashok R. Patel

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajh.2830490314

  9. Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 1, 1 April 2005, Pages: 77–79, John D. Phillips, Christy A. Warby and James P. Kushner

    Version of Record online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30425

  10. Non-prescription supplement-induced hepatitis with hyperferritinemia and mutation (H63D) in the HFE gene

    Hepatology Research

    Volume 38, Issue 3, March 2008, Pages: 319–323, Hideki Fujii, Nobumasa Takagaki, Takaharu Yoh, Atsuhiro Morita, Tohru Ohkawara, Kanji Yamaguchi, Masahito Minami, Yoshihiko Sawa, Takeshi Okanoue, Yasuo Ohkawara and Yoshito Itoh

    Version of Record online : 18 OCT 2007, DOI: 10.1111/j.1872-034X.2007.00266.x

  11. Novel Biomarkers in Autoimmune Diseases

    Annals of the New York Academy of Sciences

    Volume 1109, Issue 1, August 2007, Pages: 385–400, HEDI ORBACH, GISELE ZANDMAN-GODDARD, HOWARD AMITAL, VIVIAN BARAK, ZOLTAN SZEKANECZ, GABRIELLA SZUCS, KATALIN DANKO, ENDRE NAGY, TUNDE CSEPANY, JOZELIO F. CARVALHO, ANDREA DORIA and YEHUDA SHOENFELD

    Version of Record online : 29 AUG 2007, DOI: 10.1196/annals.1398.044

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    Hyperferritinemia and iron overload in type 1 Gaucher disease

    American Journal of Hematology

    Volume 85, Issue 7, July 2010, Pages: 472–476, Philip Stein, Hannah Yu, Dhanpat Jain and Pramod K. Mistry

    Version of Record online : 24 MAR 2010, DOI: 10.1002/ajh.21721

  13. ABSTRACTS FROM THE 31st ANNUAL MEETING OF THE HISTIOCYTE SOCIETY ATHENS, GREECE SEPTEMBER 28–30, 2015

    Pediatric Blood & Cancer

    Volume 62, Issue S3, November 2015, Pages: S121–S141,

    Version of Record online : 9 SEP 2015, DOI: 10.1002/pbc.25707

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    Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study

    Hepatology

    Volume 55, Issue 6, June 2012, Pages: 1722–1726, Paul C. Adams, Mark Speechley, James C. Barton, Christine E. McLaren, Gordon D. McLaren and John H. Eckfeldt

    Version of Record online : 18 APR 2012, DOI: 10.1002/hep.25538

  15. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man

    European Journal of Haematology

    Volume 86, Issue 3, March 2011, Pages: 260–264, Alejandro del-Castillo-Rueda, María-Isabel Moreno-Carralero, Luis-Antonio Álvarez-Sala-Walther, Nuria Cuadrado-Grande, Rafael Enríquez-de-Salamanca, Manuel Méndez and María-Josefa Morán-Jiménez

    Version of Record online : 11 JAN 2011, DOI: 10.1111/j.1600-0609.2010.01565.x

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    The impact of phlebotomy in nonalcoholic fatty liver disease: A prospective, randomized, controlled trial

    Hepatology

    Volume 61, Issue 5, May 2015, Pages: 1555–1564, Leon A. Adams, Darrell H. Crawford, Katherine Stuart, Michael J. House, Timothy G. St. Pierre, Malcolm Webb, Helena L.I. Ching, Jenny Kava, Michael Bynevelt, Gerry C. MacQuillan, George Garas, Oyekoya T. Ayonrinde, Trevor A. Mori, Kevin D. Croft, Xianwa Niu, Gary P. Jeffrey and John K. Olynyk

    Version of Record online : 20 MAR 2015, DOI: 10.1002/hep.27662

  17. SIOP 2015 Scientific Programme + Index

    Pediatric Blood & Cancer

    Volume 62, Issue S4, November 2015, Pages: S143–S418,

    Version of Record online : 9 SEP 2015, DOI: 10.1002/pbc.25715

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    Hyperferritinemia as indicator for intravenous immunoglobulin treatment in reactive macrophage activation syndromes

    American Journal of Hematology

    Volume 68, Issue 1, September 2001, Pages: 4–10, Urban Emmenegger, Ursula Frey, Andrea Reimers, Christoph Fux, David Semela, Philippe Cottagnoud, Peter J. Spaeth and Klaus A. Neftel

    Version of Record online : 30 JUL 2001, DOI: 10.1002/ajh.1141

  19. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload

    Clinical Genetics

    Volume 73, Issue 2, February 2008, Pages: 171–178, S Pelucchi, R Mariani, A Salvioni, S Bonfadini, A Riva, F Bertola, P Trombini and A Piperno

    Version of Record online : 27 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00950.x

  20. Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 189–192, FGA Meneses, B Schnabel, IDCG Silva, FL Alberto, L Toma, HB Nader and CC Lopes

    Version of Record online : 6 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01517.x