Saquet C - Search Results

1

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: saquet c. Eur J Hum Genet. 2005 Dec;13(12):1254-60. doi: 10.1038/sj.ejhg.5201478. Eur J Hum Genet. 2005. PMID: 16077730

2

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

Tuffery-Giraud S, Saquet C, Chambert S, Claustres M. Tuffery-Giraud S, et al. Among authors: saquet c. Hum Mutat. 2003 Jun;21(6):608-14. doi: 10.1002/humu.10214. Hum Mutat. 2003. PMID: 12754707

3

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F, Cossée M, Philippe C, Monnier N, Bieth E, Recan D, Antoinette Voelckel M, Perelman S, Lambert JC, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: saquet c. Neuromuscul Disord. 2004 Oct;14(10):650-8. doi: 10.1016/j.nmd.2004.05.002. Neuromuscul Disord. 2004. PMID: 15351422

4

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.

Frédéric M, Lucarz E, Monino C, Saquet C, Thorel D, Claustres M, Tuffery-Giraud S, Collod-Béroud G. Frédéric M, et al. Among authors: saquet c. Mov Disord. 2007 Apr 30;22(6):884-8. doi: 10.1002/mds.21391. Mov Disord. 2007. PMID: 17290457

5

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: saquet c. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.

6

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, Martin N, Saquet C, Chrétien Y, Méjean A, Correas JM, Benoît G, Colombeau P, Grünfeld JP, Junien C, Béroud C. Gallou C, et al. Among authors: saquet c. Hum Mutat. 2004 Sep;24(3):215-24. doi: 10.1002/humu.20082. Hum Mutat. 2004. PMID: 15300849

7

[Prevention of renal carcinoma: the nutri-genetic approach].

Junien C, Dupret JM, Gallou C, Longuemaux S, Richard S, Saquet C, Krishnamoorty R, Delomenie C, Droz D, Bouvier R, Chauveau D, Joly D, Grunfeld JP, Chretien Y, Mejean A, Beroud C. Junien C, et al. Among authors: saquet c. J Soc Biol. 2000;194(1):29-38. J Soc Biol. 2000. PMID: 11107547 Review. French.

8

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

Lia AS, Seznec H, Hofmann-Radvanyi H, Radvanyi F, Duros C, Saquet C, Blanche M, Junien C, Gourdon G. Lia AS, et al. Among authors: saquet c. Hum Mol Genet. 1998 Aug;7(8):1285-91. doi: 10.1093/hmg/7.8.1285. Hum Mol Genet. 1998. PMID: 9668171

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