196 related articles for article (PubMed ID: 19994473)
1. [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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
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 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]
9. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Yang Y; Lin T; Kuang P; Chen X
Hematology; 2021 Dec; 26(1):896-903. PubMed ID: 34789084
[No Abstract] [Full Text] [Related]
10. [Hereditary hyperferritinemia syndrome and cataract].
Feys J; Nodarian M; Aygalenq P; Cattan D; Bouccara AS; Beaumont C
J Fr Ophtalmol; 2001 Oct; 24(8):847-50. PubMed ID: 11894536
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
Ferro E; Capra AP; Zirilli G; Meduri A; Urso M; Briuglia S; La Rosa MA
Pediatr Dev Pathol; 2018; 21(5):456-460. PubMed ID: 29426274
[TBL] [Abstract][Full Text] [Related]
13. Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
Yazar S; Franchina M; Craig JE; Burdon KP; Mackey DA
Ophthalmic Genet; 2017; 38(2):171-174. PubMed ID: 27096259
[TBL] [Abstract][Full Text] [Related]
14. The case of a 1-year-old girl with hereditary hyperferritinemia cataract syndrome.
Rochow N; Bachmaier N; Tost F; Beck JF; Bernig T
Pediatr Hematol Oncol; 2009; 26(3):136-41. PubMed ID: 19382035
[TBL] [Abstract][Full Text] [Related]
15. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.
Craig JE; Clark JB; McLeod JL; Kirkland MA; Grant G; Elder JE; Toohey MG; Kowal L; Savoia HF; Chen C; Roberts S; Wirth MG; Mackey DA
Arch Ophthalmol; 2003 Dec; 121(12):1753-61. PubMed ID: 14662596
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. PubMed ID: 17579362
[TBL] [Abstract][Full Text] [Related]
18. [Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome].
Cervera Bravo A; Sebastían Planas M; Alarabe Alarabe A; Díez Sáenz A; Avilés Egea MJ; Balas Pérez A
An Esp Pediatr; 2000 Mar; 52(3):267-70. PubMed ID: 11003906
[TBL] [Abstract][Full Text] [Related]
19. 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]
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]