Tuffery S - Search Results

1

Cavé H, Acquaviva C, Bièche I, Brault D, de Fraipont F, Fina F, Loric S, Maisonneuve L, Namour F, Tuffery S. Cavé H, et al. Among authors: tuffery s. Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):635-44. Ann Biol Clin (Paris). 2003. PMID: 14711604 Free article. Review. French.

2

[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)].

Beaufrere L, Girardet A, Arnaud B, Claustres M, Tuffery S. Beaufrere L, et al. Among authors: tuffery s. J Fr Ophtalmol. 1998 May;21(5):345-50. J Fr Ophtalmol. 1998. PMID: 9759428 French.

3

The protein truncation test (PTT) as a method of detection for choroideremia mutations.

Beaufrère L, Tuffery S, Hamel C, Bareil C, Arnaud B, Demaille J, Claustres M. Beaufrère L, et al. Among authors: tuffery s. Exp Eye Res. 1997 Dec;65(6):849-54. doi: 10.1006/exer.1997.0392. Exp Eye Res. 1997. PMID: 9441709

4

[Rapid genetic diagnosis of females carriers related to patients with choroideremia].

Beaufrère L, Tuffery S, Hamel C, Bareil C, Arnaud B, Demaille J, Claustres M. Beaufrère L, et al. Among authors: tuffery s. J Fr Ophtalmol. 1997;20(7):534-8. J Fr Ophtalmol. 1997. PMID: 9499978 French.

5

Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test.

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M. Romey MC, et al. Among authors: tuffery s. Hum Genet. 1996 Sep;98(3):328-32. doi: 10.1007/s004390050217. Hum Genet. 1996. PMID: 8707304

6

No missense mutation in choroideremia patients analyzed to date.

Beaufrère L, Claustres M, Tuffery S. Beaufrère L, et al. Among authors: tuffery s. Ophthalmic Genet. 1999 Jun;20(2):89-93. doi: 10.1076/opge.20.2.89.2291. Ophthalmic Genet. 1999. PMID: 10420193

7

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M. Tuffery S, et al. Hum Mutat. 1995;6(2):126-35. doi: 10.1002/humu.1380060205. Hum Mutat. 1995. PMID: 7581396

8

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. Tuffery S, et al. Hum Genet. 1998 Mar;102(3):334-42. doi: 10.1007/s004390050702. Hum Genet. 1998. PMID: 9544849

9

Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.

Tuffery S, Moine P, Demaille J, Claustres M. Tuffery S, et al. Hum Mutat. 1993;2(5):368-74. doi: 10.1002/humu.1380020508. Hum Mutat. 1993. PMID: 8257990

10

A new intragenic polymorphism detected by the single-strand conformation polymorphism (SSCP) assay in the dystrophin gene.

Tuffery S, Demaille J, Claustress M. Tuffery S, et al. Hum Mutat. 1992;1(3):221-3. doi: 10.1002/humu.1380010308. Hum Mutat. 1992. PMID: 1301928

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