Literature DB >> 8558554

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

D Bonneau1, I Winter-Fuseau, M N Loiseau, P Amati, M Berthier, D Oriot, C Beaumont.   

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Year:  1995        PMID： 8558554      PMCID： PMC1051699          DOI： 10.1136/jmg.32.10.778

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

Review 1.  Ferritin in serum. Clinical and biochemical implications.

Authors:  A Jacobs; M Worwood
Journal:  N Engl J Med       Date:  1975-05-01       Impact factor: 91.245

2.  Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter.

Authors:  M Worwood; J D Brook; S J Cragg; B Hellkuhl; B M Jones; P Perera; S H Roberts; D J Shaw
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 3.  Ferritin in human tissues and serum.

Authors:  M Worwood
Journal:  Clin Haematol       Date:  1982-06

4.  Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4, and adjacent to ETFB.

Authors:  K Lieuallen; M Christensen; B Brandriff; R Church; J Wang; G Lennon
Journal:  Somat Cell Mol Genet       Date:  1994-01
  4 in total
  13 in total

Review 1.  Forging a field: the golden age of iron biology.

Authors:  Nancy C Andrews
Journal:  Blood       Date:  2008-07-15       Impact factor: 22.113

Review 2.  Ferritin for the clinician.

Authors:  Mary Ann Knovich; Jonathan A Storey; Lan G Coffman; Suzy V Torti; Frank M Torti
Journal:  Blood Rev       Date:  2008-10-02       Impact factor: 8.250

3.  Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes.

Authors:  Jayantha Arnold; Arvind Sangwaiya; Vijay Manglam; Mark Thursz; Caroline Beaumont; Caroline Kannengiesser; Mark Busbridge
Journal:  World J Gastroenterol       Date:  2010-07-28       Impact factor: 5.742

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

Authors:  Caroline Kannengiesser; Anne-Marie Jouanolle; Gilles Hetet; Annick Mosser; Françoise Muzeau; Dominique Henry; Edouard Bardou-Jacquet; Martine Mornet; Pierre Brissot; Yves Deugnier; Bernard Grandchamp; Carole Beaumont
Journal:  Haematologica       Date:  2009-01-27       Impact factor: 9.941

5.  Mutation analysis of the ferritin L-chain gene in age-related cataract.

Authors:  Nurit Assia; Nitza Goldenberg-Cohen; Gideon Rechavi; Ninette Amariglio; Yoram Cohen
Journal:  Mol Vis       Date:  2010-11-24       Impact factor: 2.367

Review 6.  Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Authors:  Gunda Millonig; Martina U Muckenthaler; Sebastian Mueller
Journal:  Hum Genomics       Date:  2010-04       Impact factor: 4.639

7.  Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series.

Authors:  Arne Kröger; Esther B Bachli; Andrew Mumford; Christoph Gubler
Journal:  J Med Case Rep       Date:  2011-09-21

8.  A child with hyperferritinemia: case report.

Authors:  Melania Serra; Filomena Longo; Antonella Roetto; Alessandro Sandri; Antonio Piga
Journal:  Ital J Pediatr       Date:  2011-05-12       Impact factor: 2.638

9.  Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Authors:  Sara Luscieti; Gabriele Tolle; Jessica Aranda; Carmen Benet Campos; Frank Risse; Érica Morán; Martina U Muckenthaler; Mayka Sánchez
Journal:  Orphanet J Rare Dis       Date:  2013-02-19       Impact factor: 4.123

10.  Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.

Authors:  Thomas M Bennett; Giovanni Maraini; Chongfei Jin; Wenmin Sun; J Fielding Hejtmancik; Alan Shiels
Journal:  Mol Vis       Date:  2013-04-11       Impact factor: 2.367
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