280 related articles for article (PubMed ID: 16406710)
1. 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; 36(1):33-40. PubMed ID: 16406710
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. PubMed ID: 10366790
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.
Beaumont C; Leneuve P; Devaux I; Scoazec JY; Berthier M; Loiseau MN; Grandchamp B; Bonneau D
Nat Genet; 1995 Dec; 11(4):444-6. PubMed ID: 7493028
[TBL] [Abstract][Full Text] [Related]
6. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
Ferrari F; Foglieni B; Arosio P; Camaschella C; Daraio F; Levi S; García Erce JA; Beaumont C; Cazzola M; Ferrari M; Cremonesi L
Hum Mutat; 2006 Feb; 27(2):201-8. PubMed ID: 16395671
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15473895
[TBL] [Abstract][Full Text] [Related]
8. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.
Lachlan KL; Temple IK; Mumford AD
Eur J Hum Genet; 2004 Oct; 12(10):790-6. PubMed ID: 15280904
[TBL] [Abstract][Full Text] [Related]
9. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.
Brooks DG; Manova-Todorova K; Farmer J; Lobmayr L; Wilson RB; Eagle RC; St Pierre TG; Stambolian D
Invest Ophthalmol Vis Sci; 2002 Apr; 43(4):1121-6. PubMed ID: 11923255
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17579362
[TBL] [Abstract][Full Text] [Related]
11. [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]
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. 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]
14. 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; 12():93-9. PubMed ID: 16518306
[TBL] [Abstract][Full Text] [Related]
15. Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.
Cremonesi L; Foglieni B; Fermo I; Cozzi A; Paroni R; Ruggeri G; Belloli S; Levi S; Fargion S; Ferrari M; Arosio P
Haematologica; 2003 Oct; 88(10):1110-6. PubMed ID: 14555306
[TBL] [Abstract][Full Text] [Related]
16. Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.
Simsek S; Nanayakkara PW; Keek JM; Faber LM; Bruin KF; Pals G
Neth J Med; 2003 Sep; 61(9):291-5. PubMed ID: 14692443
[TBL] [Abstract][Full Text] [Related]
17. Pathogenesis of hyperferritinemia cataract syndrome.
Roetto A; Bosio S; Gramaglia E; Barilaro MR; Zecchina G; Camaschella C
Blood Cells Mol Dis; 2002; 29(3):532-5. PubMed ID: 12547247
[TBL] [Abstract][Full Text] [Related]
18. Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
Shekunov J; de Groen PC; Lindor NM; Klee GG; Aleff RA; Wieben ED; Mohney BG
J AAPOS; 2011 Aug; 15(4):356-61. PubMed ID: 21907119
[TBL] [Abstract][Full Text] [Related]
19. 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]
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. PubMed ID: 21410535
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
