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■ Abbreviation / Long Form : HHCS / hereditary hyperferritinemia cataract syndrome

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Total Number of Papers: 51
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Abbreviation:   HHCS  (>> Co-occurring Abbreviation)
Long Form:   hereditary hyperferritinemia cataract syndrome
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No. Year Title Co-occurring Abbreviation
2019 Hereditary hyperferritinaemia-cataract syndrome (HHCS) - an underestimated condition: ferritin light chain variant spectrum in German families. IRE, L-ferritin, PCR
2019 L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases. FTL gene, NBIA
2018 FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family. FTL, IRE
2017 Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. FTL, IRE
2017 Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome. 5'UTR, FTL, IRE, IRPs
2015 Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome. L-ferritin
2014 Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia. ---
2014 Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. FTL, IRE
2013 A new family with hereditary hyperferritinemia cataract syndrome. ---
10  2013 Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. FTL, IPRs, IRE
11  2013 The hereditary hyperferritinemia-cataract syndrome in 2 italian families. HH
12  2012 Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS). ---
13  2011 A child with hyperferritinemia: case report. ---
14  2011 Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families. FTL, IRE
15  2011 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. HF, IRE
16  2011 Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families. FTL
17  2010 A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. IRE, non-H-HCS
18  2010 Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes. HCs
19  2010 High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene. FTL, HRM, IRE
20  2010 Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. ---
21  2010 Mutation analysis of the ferritin L-chain gene in age-related cataract. IRE
22  2010 The hereditary hyperferritinemia-cataract syndrome: a family study. FTL
23  2009 The case of a 1-year-old girl with hereditary hyperferritinemia cataract syndrome. ---
24  2009 [Hereditary hyperferritinemia cataract syndrome--the first family in Germany]. IRE, IRP1
25  2007 A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. FTL, IRE
26  2007 Hereditary hyperferritinemia-cataract syndrome. ---
27  2007 Hyperferritinaemia not always a sign of iron overload. ---
28  2006 Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE. FTL, IRE, IRPs
29  2006 Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. IRE
30  2006 Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. FTL, IRE, IRPs
31  2005 Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist. IRE
32  2005 Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome. IRE
33  2004 Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome. FTL, IRE
34  2004 Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome. IRE, L-ferritin, PMNLs
35  2003 Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis. ---
36  2003 Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. ---
37  2003 Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. IRE
38  2003 Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation. IRE
39  2002 A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome. DG-DGGE, IRE
40  2002 Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. L-ferritin
41  2002 Hereditary hyperferritinaemia/ cataract syndrome. IREs, IRPs, UTRs
42  2002 Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations. IRE
43  2002 Pathogenesis of hyperferritinemia cataract syndrome. IRE, IREs, UTRs
44  2001 Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. IRE
45  2001 Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome. ---
46  2000 High level of ferritin light chain mRNA in lens. L-ferritin
47  2000 The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. ---
48  1999 Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome. IRE, IRPs
49  1999 Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome. IRE
50  1998 Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome. IRE
51  1997 Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. IRE, IRPs