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Items: 1 to 20 of 583

1.

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

Kannengiesser C, Jouanolle AM, Hetet G, Mosser A, Muzeau F, Henry D, Bardou-Jacquet E, Mornet M, Brissot P, Deugnier Y, Grandchamp B, Beaumont C.

Haematologica. 2009 Mar;94(3):335-9. doi: 10.3324/haematol.2008.000125. Epub 2009 Jan 27.

2.

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.

3.

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.

4.

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
5.

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C.

Blood. 2003 Sep 1;102(5):1904-10. Epub 2003 May 1.

6.

Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.

Pérez de Nanclares G, Castaño L, Martul P, Rica I, Vela A, Sanjurjo P, Aldamiz-Echevarría K, Martínez R, Sarrionandia MJ.

J Pediatr Endocrinol Metab. 2001 Mar;14(3):295-300.

PMID:
11308047
7.
9.

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Vanita V, Hejtmancik JF, Hennies HC, Guleria K, Nürnberg P, Singh D, Sperling K, Singh JR.

Mol Vis. 2006 Feb 21;12:93-9.

11.

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Thurlow V, Vadher B, Bomford A, DeLord C, Kannengiesser C, Beaumont C, Grandchamp B.

Ann Clin Biochem. 2012 May;49(Pt 3):302-5. doi: 10.1258/acb.2011.011229. Epub 2012 Apr 25.

PMID:
22535864
12.

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
13.

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

Ismail AR, Lachlan KL, Mumford AD, Temple IK, Hodgkins PR.

Eur J Ophthalmol. 2006 Jan-Feb;16(1):153-60.

PMID:
16496261
14.

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
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.

Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.

Garderet L, Hermelin B, Gorin NC, Rosmorduc O.

Am J Med. 2004 Jul 15;117(2):138-9. No abstract available.

PMID:
15234655
17.

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE.

Hum Mutat. 2007 Jul;28(7):742.

PMID:
17579362
18.

A point mutation in the iron-responsive element of the L-ferritin in a family with hereditary hyperferritinemia cataract syndrome.

Wong K, Barbin Y, Chakrabarti S, Adams P.

Can J Gastroenterol. 2005 Apr;19(4):253-5.

PMID:
15861269
19.
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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