149 related articles for article (PubMed ID: 14555306)
1. 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]
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. 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]
4. 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]
5. 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; 130(9):324-8. PubMed ID: 10746272
[TBL] [Abstract][Full Text] [Related]
6. Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.
Cremonesi L; Paroni R; Foglieni B; Galbiati S; Fermo I; Soriani N; Belloli S; Ruggeri G; Biasiotto G; Cazzola M; Ferrari F; Ferrari M; Arosio P
Br J Haematol; 2003 Apr; 121(1):173-9. PubMed ID: 12670350
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Association with 5'-untranslated region and response to interferon in chronic hepatitis C.
Katano Y; Hayashi K; Ishigami M; Itoh A; Hirooka Y; Nakano I; Goto H
Hepatogastroenterology; 2007; 54(75):854-7. PubMed ID: 17591078
[TBL] [Abstract][Full Text] [Related]
10. Selection of different 5' untranslated region hepatitis C virus variants during post-transfusion and post-transplantation infection.
Gallegos-Orozco JF; Arenas JI; Vargas HE; Kibler KV; Wilkinson JK; Nowicki M; Radkowski M; Nasseri J; Rakela J; Laskus T
J Viral Hepat; 2006 Jul; 13(7):489-98. PubMed ID: 16792543
[TBL] [Abstract][Full Text] [Related]
11. Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.
Cremonesi L; Fumagalli A; Soriani N; Ferrari M; Levi S; Belloli S; Ruggeri G; Arosio P
Clin Chem; 2001 Mar; 47(3):491-7. PubMed ID: 11238302
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The hepatitis C virus 5' untranslated region gene amplified by rapid amplification of cDNA ends and its secondary structure.
Qin ZX; Cong X; Jiang D; Ha MH; Chen HS; Wei L
Hepatobiliary Pancreat Dis Int; 2002 Aug; 1(3):368-72. PubMed ID: 14607708
[TBL] [Abstract][Full Text] [Related]
14. Translational control of apolipoprotein B mRNA: regulation via cis elements in the 5' and 3' untranslated regions.
Pontrelli L; Sidiropoulos KG; Adeli K
Biochemistry; 2004 Jun; 43(21):6734-44. PubMed ID: 15157107
[TBL] [Abstract][Full Text] [Related]
15. Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
Gil-Borlado MC; González-Hoyuela M; Blázquez A; García-Silva MT; Gabaldón T; Manzanares J; Vara J; Martín MA; Seneca S; Arenas J; Ugalde C
Mitochondrion; 2009 Sep; 9(5):299-305. PubMed ID: 19389488
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
D'Apice MR; Gambardella S; Bengala M; Russo S; Nardone AM; Lucidi V; Sangiuolo F; Novelli G
BMC Med Genet; 2004 Apr; 5():8. PubMed ID: 15084222
[TBL] [Abstract][Full Text] [Related]
18. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
Torres-Juan L; Rosell J; Morla M; Vidal-Pou C; García-Algas F; de la Fuente MA; Juan M; Tubau A; Bachiller D; Bernues M; Perez-Granero A; Govea N; Busquets X; Heine-Suñer D
Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
[TBL] [Abstract][Full Text] [Related]
19. Crassostrea gigas ferritin: cDNA sequence analysis for two heavy chain type subunits and protein purification.
Durand JP; Goudard F; Pieri J; Escoubas JM; Schreiber N; Cadoret JP
Gene; 2004 Sep; 338(2):187-95. PubMed ID: 15315822
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]