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kw.\*:("Cataracte hyperferritinémie syndrome")

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Hereditary hyperferritinaemia cataract syndromeBOWES, Oliver; BAXTER, Kim; ELSEY, Terry et al.Lancet (British edition). 2014, Vol 383, Num 9927, issn 0140-6736, p. 1520Article

The hereditary hyperferritinemia-cataract syndrome: a family studyALVAREZ-COCA-GONZALEZ, Javier; MORENO-CARRALERO, Maria-Isabel; MARTINEZ-PEREZ, Jorge et al.European journal of pediatrics. 2010, Vol 169, Num 12, pp 1553-1555, issn 0340-6199, 3 p.Article

A family with hereditary hyperferritinaemia cataract syndrome : evidence of incomplete penetrance and clinical heterogeneityGONZALEZ-HUERTA, Luz; RAMIREZ-SANCHEZ, Veronica; RIVERA-VEGA, Maria et al.British journal of haematology. 2008, Vol 143, Num 4, pp 596-598, issn 0007-1048, 3 p.Article

Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridizationGASPARINI, P; CALVANO, S; MEMEO, E et al.Annales de génétique (Paris). 1997, Vol 40, Num 4, pp 227-228, issn 0003-3995Conference Paper

High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain geneCASTIGLIONI, Emanuela; SORIANI, Nadia; GIRELLI, Domenico et al.Clinical chemistry and laboratory medicine. 2010, Vol 48, Num 10, pp 1415-1418, issn 1434-6621, 4 p.Article

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutationsMCLEOD, Janet L; CRAIG, Jamie; GUMLEY, Sarah et al.British journal of haematology. 2002, Vol 118, Num 4, pp 1179-1182, issn 0007-1048Article

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 C14GCREMONESI, Laura; FUMAGALLI, Antonella; SORIANI, Nadia et al.Clinical chemistry (Baltimore, Md.). 2001, Vol 47, Num 3, pp 491-497, issn 0009-9147Article

Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutationsCREMONESI, Laura; PARONI, Rita; FERRARI, Francesca et al.British journal of haematology. 2003, Vol 121, Num 1, pp 173-179, issn 0007-1048, 7 p.Article

A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndromeCAZZOLA, Mario; FOGLIENI, Barbara; BERGAMASCHI, Gaetano et al.British journal of haematology. 2002, Vol 116, Num 3, pp 667-670, issn 0007-1048Article

Génétique moléculaire du syndrome héréditaire cataracte-hyperferritinémie = Molecular genetics of hereditary cataract-hyperferritinemia syndromeMILON, B; BEAUMONT, C.Annales de biologie clinique (Paris). 1998, Vol 56, Num JUL, pp 36-40, issn 0003-3898, NSConference Paper

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