Le Gac G - Search Results

1

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C. Leman R, et al. Among authors: le gac g. Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372. Nucleic Acids Res. 2018. PMID: 29750258 Free PMC article.

2

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.

Le Gac G, Mura C, Férec C. Le Gac G, et al. Clin Chem. 2001 Sep;47(9):1633-40. Clin Chem. 2001. PMID: 11514397

3

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. 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

4

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.

Mura C, Le Gac G, Jacolot S, Férec C. Mura C, et al. Among authors: le gac g. FASEB J. 2004 Dec;18(15):1922-4. doi: 10.1096/fj.04-2520fje. Epub 2004 Oct 5. FASEB J. 2004. PMID: 15467009

5

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: le gac g. BMC Med Genet. 2005 Jun 1;6:24. doi: 10.1186/1471-2350-6-24. BMC Med Genet. 2005. PMID: 15929798 Free PMC article.

6

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. Among authors: le gac g. Hum Genet. 2005 Sep;117(5):467-75. doi: 10.1007/s00439-005-1307-y. Epub 2005 Jun 18. Hum Genet. 2005. PMID: 15965644

7

The molecular genetics of haemochromatosis.

Le Gac G, Férec C. Le Gac G, et al. Eur J Hum Genet. 2005 Nov;13(11):1172-85. doi: 10.1038/sj.ejhg.5201490. Eur J Hum Genet. 2005. PMID: 16132052 Review.

8

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: le gac g. 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.

9

The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion.

Boulling A, Le Gac G, Dujardin G, Chen JM, Férec C. Boulling A, et al. Among authors: le gac g. Mol Genet Metab. 2010 Mar;99(3):319-24. doi: 10.1016/j.ymgme.2009.10.176. Epub 2009 Oct 23. Mol Genet Metab. 2010. PMID: 19919903

10

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

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