Gourlaouen I - Search Results

1

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Rodríguez-Palmero A, Schlüter A, Verdura E, Ruiz M, Martínez JJ, Gourlaouen I, Ka C, Lobato R, Casasnovas C, Le Gac G, Fourcade S, Pujol A. Rodríguez-Palmero A, et al. Among authors: gourlaouen i. Ann Clin Transl Neurol. 2020 Sep;7(9):1574-1579. doi: 10.1002/acn3.51131. Epub 2020 Aug 15. Ann Clin Transl Neurol. 2020. PMID: 33245593 Free PMC 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: gourlaouen i. 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

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. Among authors: gourlaouen i. Haematologica. 2007 Sep;92(9):1262-3. doi: 10.3324/haematol.11247. Haematologica. 2007. PMID: 17768121 Free article.

4

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: gourlaouen i. 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.

5

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

6

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: gourlaouen i. Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10. Hum Mutat. 2013. PMID: 23784628

7

Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.

Cézard C, Rabbind Singh A, Le Gac G, Gourlaouen I, Ferec C, Rochette J. Cézard C, et al. Among authors: gourlaouen i. Blood Cells Mol Dis. 2014 Jan;52(1):27-34. doi: 10.1016/j.bcmd.2013.07.011. Epub 2013 Aug 14. Blood Cells Mol Dis. 2014. PMID: 23953397

8

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

Saliou P, Le Gac G, Mercier AY, Chanu B, Guéguen P, Mérour MC, Gourlaouen I, Autret S, Le Maréchal C, Rouault K, Nousbaum JB, Férec C, Scotet V. Saliou P, et al. Among authors: gourlaouen i. PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013. PLoS One. 2013. PMID: 24339903 Free PMC article.

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: gourlaouen i. 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. Among authors: gourlaouen i. 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.

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