S. Tuffery

发表

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results.

S. Hemm, N. Vayssiere, L. Cif, 2004, Journal of neurosurgery.

Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts

J. Gris, M. Claustres, J. Demaille, 1998, Human mutation.

Mutation in the 5′ noncoding region of the SRY gene in an XY sex‐reversed patient

S. Tuffery, P. Jay, M. Desclozeaux, 1998, Human mutation.

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.

D. Le Paslier, A. Toutain, A. Bozio, 1997, Journal of molecular and cellular cardiology.

Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.

M. Claustres, S. Tuffery, L. Beaufrère, 1998, Current eye research.

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

M. Claustres, C. Bareil, J. Demaille, 1997, Experimental eye research.

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies

B. Echenne, M. Claustres, J. Demaille, 1991, Human Genetics.

Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing

N. Arnheim, S. Lien, M. Claustres, 1999, European Journal of Human Genetics.

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.

F. Rivier, A. Toutain, B. Echenne, 2009, Human molecular genetics.

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

M. Claustres, J. Demaille, S. Tuffery, 1995, Human mutation.

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

M. Claustres, C. Bareil, C. Hamel, 2000, Journal francais d'ophtalmologie.

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

B. Echenne, M. Claustres, C. Bareil, 1998, Human Genetics.

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

E. Chouery, A. Mégarbané, J. Loiselet, 2000, American journal of human genetics.

Exon skipping‐mediated dystrophin reading frame restoration for small mutations

A. Ferlini, P. Spitali, N. Maraldi, 2009, Human mutation.

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

M. Claustres, T. Bienvenu, J. Demaille, 1996, Human Genetics.

Identification of variable length polyadenosine tract at the dystrophin locus

M. Claustres, J. Demaille, S. Tuffery, 1995, Human Genetics.

Amplification of the RB1.20 polymorphism in single spermatozoa

M. Claustres, F. Munier, S. Tuffery, 1997, Journal of Assisted Reproduction and Genetics.

No missense mutation in choroideremia patients analyzed to date.

M. Claustres, S. Tuffery, L. Beaufrère, 1999, Ophthalmic genetics.

[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case].

N. Vayssiere, P. Coubes, B. Echenne, 1999, Neuro-Chirurgie.

[The varied etiologies of childhood-onset dystonia].

F. Rivier, B. Echenne, S. Tuffery, 2002, Revue neurologique.

Treatment of dystonic syndromes by chronic electrical stimulation of the internal globus pallidus.

S. Hemm, N. Vayssiere, L. Cif, 2003, Journal of neurosurgical sciences.

Four Novel Dystrophin Point Mutations: Detection by Protein Truncation Test and Transcript Analysis in Lymphocytes from Duchenne Muscular Dystrophy Patients

M. Claustres, C. Bareil, J. Demaille, 1996, European journal of human genetics : EJHG.

Base substitutions in the human dystrophin gene: Detection by using the single‐strand conformation polymorphism (SSCP) technique

M. Claustres, J. Demaille, S. Tuffery, 1993, Human mutation.

Three Novel APC Gene Mutations in Portuguese FAP Kindreds

S. Tuffery, Laurent Beaufrhre, 2005 .

A novel mutation (S558X) causing choroideremia

M. Claustres, J. Demaille, C. Hamel, 1996, Human mutation.

Mental Retardation

J. Demaille, S. Tuffery, C. Coubes, 2005 .

Becker muscular dystrophy: Demonstration of the carrier status of a female by immunoblotting and immunostaining

B. Echenne, M. Claustres, J. Demaille, 1992, Neuromuscular Disorders.