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Items: 1 to 20 of 141

1.
2.

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.

Ferrante M, Geubel AP, Fevery J, Marogy G, Horsmans Y, Nevens F.

Eur J Gastroenterol Hepatol. 2005 Nov;17(11):1247-53. Review.

PMID:
16215440
3.

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.

Papanikolaou G, Chandrinou H, Bouzas E, Contopoulos-Ioannidis D, Kalotychou V, Prentzas K, Lilakos K, Asproudis I, Palaiologou D, Premetis E, Papassotiriou I, Sakellaropoulos N.

Blood Cells Mol Dis. 2006 Jan-Feb;36(1):33-40. Epub 2006 Jan 5.

PMID:
16406710
4.

[Hereditary hyperferritinaemia-cataract syndrome].

van der Klooster JM.

Ned Tijdschr Geneeskd. 2003 Sep 27;147(39):1923-8. Dutch.

PMID:
14560693
5.

Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.

Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi PE, Cairo G, Arosio P.

Blood. 1997 Jul 15;90(2):814-21.

6.

Hereditary hyperferritinaemia/ cataract syndrome.

Cazzola M.

Best Pract Res Clin Haematol. 2002 Jun;15(2):385-98. Review.

PMID:
12401313
7.

[Hereditary hyperferritinemia cataract syndrome--the first family in Germany].

Millonig G, Holzer MP, Tolle G, Auffarth GU, Muckenthaler MU, Seitz HK, Mueller S.

Z Gastroenterol. 2009 Dec;47(12):1211. doi: 10.1055/s-0028-1109523. German.

PMID:
19994473
8.

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M.

Orphanet J Rare Dis. 2013 Feb 19;8:30. doi: 10.1186/1750-1172-8-30.

9.

Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome.

Fritsche-Polanz R, Wallner M, Cohen G, Eberle C, Sunder-Plassmann G, Födinger M.

Eur J Clin Invest. 2004 Oct;34(10):701-8.

PMID:
15473895
10.
11.

Hereditary hyperferritinaemia cataract syndrome: does it exist in Switzerland?

Rosochova J, Kapetanios A, Pournaras C, Vadas L, Samii K, Beris P.

Schweiz Med Wochenschr. 2000 Mar 4;130(9):324-8.

PMID:
10746272
12.
13.
14.

A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.

Cao W, McMahon M, Wang B, O'Connor R, Clarkson M.

Blood Cells Mol Dis. 2010 Jan 15;44(1):22-7. doi: 10.1016/j.bcmd.2009.09.003. Epub 2009 Oct 2.

PMID:
19800271
15.

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.

Nonnenmacher L, Langer T, Blessing H, Gabriel H, Buchwald HJ, Meneksedag C, Kohne E, Gencik M, Debatin KM, Cario H.

Klin Padiatr. 2011 Nov;223(6):346-51. doi: 10.1055/s-0031-1287825. Epub 2011 Oct 21.

PMID:
22020773
16.

Hyperferritinaemia in the absence of iron overload.

Arnold JD, Mumford AD, Lindsay JO, Hegde U, Hagan M, Hawkins JR.

Gut. 1997 Sep;41(3):408-10.

17.

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.

Brooks DG, Manova-Todorova K, Farmer J, Lobmayr L, Wilson RB, Eagle RC Jr, St Pierre TG, Stambolian D.

Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1121-6.

PMID:
11923255
18.

Pathogenesis of hyperferritinemia cataract syndrome.

Roetto A, Bosio S, Gramaglia E, Barilaro MR, Zecchina G, Camaschella C.

Blood Cells Mol Dis. 2002 Nov-Dec;29(3):532-5.

PMID:
12547247
19.

Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.

Cicilano M, Zecchina G, Roetto A, Bosio S, Infelise V, Stefani S, Mazza U, Camaschella C.

Haematologica. 1999 Jun;84(6):489-92.

20.

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.

Rüfer A, Howell JP, Lange AP, Yamamoto R, Heuscher J, Gregor M, Wuillemin WA.

Eur J Haematol. 2011 Sep;87(3):274-8. doi: 10.1111/j.1600-0609.2011.01607.x. Epub 2011 Apr 6.

PMID:
21410535

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