Ka C - Search Results

1

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

Létocart E, Le Gac G, Majore S, Ka C, Radio FC, Gourlaouen I, De Bernardo C, Férec C, Grammatico P. Létocart E, et al. Among authors: ka c. Br J Haematol. 2009 Nov;147(3):379-85. doi: 10.1111/j.1365-2141.2009.07834.x. Epub 2009 Aug 25. Br J Haematol. 2009. PMID: 19709084 Free article.

2

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Férec C. Le Gac G, et al. Among authors: ka c. Hum Mol Genet. 2004 Sep 1;13(17):1913-8. doi: 10.1093/hmg/ddh206. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254010

3

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.

Scotet V, Le Gac G, Mérour MC, Mercier AY, Chanu B, Ka C, Mura C, Nousbaum JB, Férec C. Scotet V, et al. Among authors: ka c. BMC Med Genet. 2005 Jun 1;6:24. doi: 10.1186/1471-2350-6-24. BMC Med Genet. 2005. PMID: 15929798 Free PMC article.

4

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C, Le Gac G, Dupradeau FY, Rochette J, Férec C. Ka C, et al. Hum Genet. 2005 Sep;117(5):467-75. doi: 10.1007/s00439-005-1307-y. Epub 2005 Jun 18. Hum Genet. 2005. PMID: 15965644

5

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.

Ka C, Le Gac G, Letocart E, Gourlaouen I, Martin B, Férec C. Ka C, et al. Haematologica. 2007 Sep;92(9):1262-3. doi: 10.3324/haematol.11247. Haematologica. 2007. PMID: 17768121 Free article.

6

Le Gac G, Ka C, Gourlaouen I, Bryckaert L, Mercier AY, Chanu B, Scotet V, Férec C. Le Gac G, et al. Among authors: ka c. Adv Hematol. 2009;2009:251701. doi: 10.1155/2009/251701. Epub 2009 Nov 5. Adv Hematol. 2009. PMID: 19960042 Free PMC article.

7

Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.

Fichou Y, Le Maréchal C, Jamet D, Bryckaert L, Ka C, Audrézet MP, Le Gac G, Dupont I, Chen JM, Férec C. Fichou Y, et al. Among authors: ka c. Transfusion. 2013 Aug;53(8):1821-8. doi: 10.1111/trf.12009. Epub 2012 Dec 11. Transfusion. 2013. PMID: 23228153 Clinical Trial.

8

Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I. Le Gac G, et al. Among authors: ka c. Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10. Hum Mutat. 2013. PMID: 23784628

9

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G. Callebaut I, et al. Among authors: ka c. Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8. Hum Mol Genet. 2014. PMID: 24714983

10

Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.

Ka C, Chen JM, Gourlaouen I, Quemener S, Ronsin C, Massonnet S, Thérond JP, Férec C, Le Gac G. Ka C, et al. Br J Haematol. 2015 Mar;168(5):759-62. doi: 10.1111/bjh.13145. Epub 2014 Oct 4. Br J Haematol. 2015. PMID: 25284364 Free article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

48 results

Search Page

Filters