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Results: 1 to 20 of 272

1.

Hereditary hyperferritinaemia-cataract syndrome and differential diagnosis of hereditary haemochromatosis.

Sanders SJ, Suri M, Ross I.

Postgrad Med J. 2003 Oct;79(936):600-1.

PMID:
14612607
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.

Simsek S, Nanayakkara PW, Keek JM, Faber LM, Bruin KF, Pals G.

Neth J Med. 2003 Sep;61(9):291-5.

PMID:
14692443
[PubMed - indexed for MEDLINE]
Free Article
3.

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.

Ferrante M, Geubel AP, Fevery J, Marogy G, Horsmans Y, Nevens F.

Eur J Gastroenterol Hepatol. 2005 Nov;17(11):1247-53. Review.

PMID:
16215440
[PubMed - indexed for MEDLINE]
4.

Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis.

Hughes M, Vosylius P.

Clin Lab Haematol. 2006 Oct;28(5):357-9.

PMID:
16999731
[PubMed - indexed for MEDLINE]
5.

A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract.

Girelli D, Olivieri O, De Franceschi L, Corrocher R, Bergamaschi G, Cazzola M.

Br J Haematol. 1995 Aug;90(4):931-4.

PMID:
7669675
[PubMed - indexed for MEDLINE]
6.

Role of ferritin and ferroportin genes in unexplained hyperferritinaemia.

Cazzola M.

Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. Review.

PMID:
15737888
[PubMed - indexed for MEDLINE]
7.

[Hereditary hyperferritinaemia-cataract syndrome].

van der Klooster JM.

Ned Tijdschr Geneeskd. 2003 Sep 27;147(39):1923-8. Dutch.

PMID:
14560693
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
15280904
[PubMed - indexed for MEDLINE]
Free Article
9.

Hyperferritinaemia not always a sign of iron overload.

Loffeld RJ.

Acta Gastroenterol Belg. 2007 Oct-Dec;70(4):360-2.

PMID:
18330093
[PubMed - indexed for MEDLINE]
10.

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations.

McLeod JL, Craig J, Gumley S, Roberts S, Kirkland MA.

Br J Haematol. 2002 Sep;118(4):1179-82.

PMID:
12199804
[PubMed - indexed for MEDLINE]
11.

[Hereditary hyperferritinemia-cataract syndrome].

Merkt J.

Dtsch Med Wochenschr. 1997 Apr 18;122(16):504-6. German.

PMID:
9162623
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
15473895
[PubMed - indexed for MEDLINE]
13.

Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome.

Giansily M, Beaumont C, Desveaux C, Hetet G, Schved JF, Aguilar-Martinez P.

Br J Haematol. 2001 Jan;112(1):51-4.

PMID:
11167783
[PubMed - indexed for MEDLINE]
14.

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

Millonig G, Muckenthaler MU, Mueller S.

Hum Genomics. 2010 Apr;4(4):250-62. Review.

PMID:
20511138
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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 Apr-May;26(3):136-41. doi: 10.1080/08880010902754842.

PMID:
19382035
[PubMed - indexed for MEDLINE]
16.

[Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")].

García Erce JA, Cortés T, Cremonesi L, Cazzola M, Pérez-Lungmus G, Giralt M.

Med Clin (Barc). 2006 Jun 10;127(2):55-8. Spanish.

PMID:
16900584
[PubMed - indexed for MEDLINE]
17.

[Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL) gene associated with the mutation H63D in the HFE gene].

Del Castillo Rueda A, Fernández Ruano ML.

Med Clin (Barc). 2007 Sep 29;129(11):414-7. Spanish.

PMID:
17927936
[PubMed - indexed for MEDLINE]
18.

[Genetic iron overloads and hepatic insulin-resistance iron overload syndrome: an update].

Ruivard M.

Rev Med Interne. 2009 Jan;30(1):35-42. doi: 10.1016/j.revmed.2008.05.004. Epub 2008 Jun 26. Review. French.

PMID:
18584923
[PubMed - indexed for MEDLINE]
19.

Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

Cazzola M, Cremonesi L, Papaioannou M, Soriani N, Kioumi A, Charalambidou A, Paroni R, Romtsou K, Levi S, Ferrari M, Arosio P, Christakis J.

Br J Haematol. 2002 Nov;119(2):539-46.

PMID:
12406098
[PubMed - indexed for MEDLINE]
20.

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 4;130(9):324-8.

PMID:
10746272
[PubMed - indexed for MEDLINE]
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