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6. 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; 90(2):814-21. PubMed ID: 9226182 [TBL] [Abstract][Full Text] [Related]
7. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. Lenzhofer M; Schroedl F; Trost A; Kaser-Eichberger A; Wiedemann H; Strohmaier C; Hohensinn M; Strasser M; Muckenthaler MU; Grabner G; Aigner E; Reitsamer HA Optom Vis Sci; 2015 Apr; 92(4 Suppl 1):S40-7. PubMed ID: 25756341 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 15861269 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22020773 [TBL] [Abstract][Full Text] [Related]
11. Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia. Tsantoula F; Kioumi A; Germenis AE; Speletas M J Pediatr Hematol Oncol; 2014 Jul; 36(5):e304-6. PubMed ID: 24983587 [TBL] [Abstract][Full Text] [Related]
12. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Girelli D; Corrocher R; Bisceglia L; Olivieri O; Zelante L; Panozzo G; Gasparini P Blood; 1997 Sep; 90(5):2084-8. PubMed ID: 9292547 [TBL] [Abstract][Full Text] [Related]
13. 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; 44(1):22-7. PubMed ID: 19800271 [TBL] [Abstract][Full Text] [Related]
14. Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. Phillips JD; Warby CA; Kushner JP Am J Med Genet A; 2005 Apr; 134A(1):77-9. PubMed ID: 15690351 [TBL] [Abstract][Full Text] [Related]
15. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases. Celma Nos F; Hernández G; Ferrer-Cortès X; Hernandez-Rodriguez I; Navarro-Almenzar B; Fuster JL; Bermúdez Cortés M; Pérez-Montero S; Tornador C; Sanchez M Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34064225 [TBL] [Abstract][Full Text] [Related]
16. [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. PubMed ID: 19994473 [TBL] [Abstract][Full Text] [Related]
17. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. Mumford AD; Cree IA; Arnold JD; Hagan MC; Rixon KC; Harding JJ Br J Ophthalmol; 2000 Jul; 84(7):697-700. PubMed ID: 10873976 [TBL] [Abstract][Full Text] [Related]
18. Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the L-ferritin gene. Arosio C; Fossati L; Viganò M; Trombini P; Cazzaniga G; Piperno A Haematologica; 1999 Jun; 84(6):560-1. PubMed ID: 10366804 [No Abstract] [Full Text] [Related]
19. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Girelli D; Corrocher R; Bisceglia L; Olivieri O; De Franceschi L; Zelante L; Gasparini P Blood; 1995 Dec; 86(11):4050-3. PubMed ID: 7492760 [TBL] [Abstract][Full Text] [Related]
20. [Hereditary hyperferritinaemia-cataract syndrome]. van der Klooster JM Ned Tijdschr Geneeskd; 2003 Sep; 147(39):1923-8. PubMed ID: 14560693 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]