Your search returned 40 results.

Results
	1.	Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. [electronic resource] by Faugère, Valérie Tuffery-Giraud, Sylvie Hamel, Christian Claustres, Mireille Producer: 20030307 In: BMC genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. [electronic resource] by Tuffery-Giraud, Sylvie Saquet, Céline Chambert, Sylvie Claustres, Mireille Producer: 20030903 In: Human mutation vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Normal and altered pre-mRNA processing in the DMD gene. [electronic resource] by Tuffery-Giraud, Sylvie Miro, Julie Koenig, Michel Claustres, Mireille Producer: 20171129 In: Human genetics vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay. [electronic resource] by Miro, Julie Bourgeois, Cyril F Claustres, Mireille Koenig, Michel Tuffery-Giraud, Sylvie Producer: 20180605 In: Methods in molecular biology (Clifton, N.J.) vol. 1687 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). [electronic resource] by Disset, Antoine Michot, Carine Harris, Ann Buratti, Emanuele Claustres, Mireille Tuffery-Giraud, Sylvie Producer: 20060227 In: Human mutation vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. [electronic resource] by Disset, A Bourgeois, C F Benmalek, N Claustres, M Stevenin, J Tuffery-Giraud, Sylvie Producer: 20071105 In: Human molecular genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. [electronic resource] by Abbs, Stephen Tuffery-Giraud, Sylvie Bakker, Egbert Ferlini, Alessandra Sejersen, Thomas Mueller, Clemens R Producer: 20101019 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. [electronic resource] by Tuffery-Giraud, Sylvie Saquet, Céline Thorel, Delphine Disset, Antoine Rivier, François Malcolm, Sue Claustres, Mireille Producer: 20080729 In: European journal of human genetics : EJHG vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71. [electronic resource] by Hnia, Karim Tuffery-Giraud, Sylvie Vermaelen, Marianne Hugon, Gerald Chazalette, Delphine Masmoudi, Ahmed Rivier, François Mornet, Dominique Producer: 20060410 In: Biochimica et biophysica acta vol. 1762 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites. [electronic resource] by Le Guédard-Méreuze, Sandie Vaché, Christel Molinari, Nicolas Vaudaine, Julie Claustres, Mireille Roux, Anne-Françoise Tuffery-Giraud, Sylvie Producer: 20091117 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. [electronic resource] by Frédéric, Mélissa Lucarz, Estelle Monino, Christine Saquet, Céline Thorel, Delphine Claustres, Mireille Tuffery-Giraud, Sylvie Collod-Béroud, Gwenaelle Producer: 20070712 In: Movement disorders : official journal of the Movement Disorder Society vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. [electronic resource] by Wang, Xinsheng Zhao, Xiangzhong Wang, Xiaoling Yao, Jian Zhang, Feifei Lang, Yanhua Tuffery-Giraud, Sylvie Bottillo, Irene Shao, Leping Producer: 20160614 In: American journal of nephrology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. [electronic resource] by Bougé, Anne-Laure Murauer, Eva Beyne, Emmanuelle Miro, Julie Varilh, Jessica Taulan, Magali Koenig, Michel Claustres, Mireille Tuffery-Giraud, Sylvie Publication details: Scientific reports 03 2017 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. [electronic resource] by Bougé, Anne-Laure Murauer, Eva Beyne, Emmanuelle Miro, Julie Varilh, Jessica Taulan, Magali Koenig, Michel Claustres, Mireille Tuffery-Giraud, Sylvie Producer: 20180928 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. [electronic resource] by Raynal, Caroline Baux, David Theze, Corinne Bareil, Corinne Taulan, Magali Roux, Anne-Françoise Claustres, Mireille Tuffery-Giraud, Sylvie des Georges, Marie Producer: 20130930 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. [electronic resource] by Zhao, Xiangzhong Cui, Li Lang, Yanhua Liu, Ting Lu, Jingru Wang, Cui Tuffery-Giraud, Sylvie Bottillo, Irene Wang, Xinsheng Shao, Leping Publication details: Scientific reports Sep 2016 In: Scientific reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? [electronic resource] by Khelifi, Mouna Messaoud Ishmukhametova, Aliya Khau Van Kien, Philippe Thorel, Delphine Méchin, Déborah Perelman, Serge Pouget, Jean Claustres, Mireille Tuffery-Giraud, Sylvie Producer: 20110722 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study. [electronic resource] by Cif, Laura Vasques, Xavier Gonzalez, Victoria Ravel, Patrice Biolsi, Brigitte Collod-Beroud, Gwenaelle Tuffery-Giraud, Sylvie Elfertit, Hassan Claustres, Mireille Coubes, Philippe Producer: 20100602 In: Movement disorders : official journal of the Movement Disorder Society vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene. [electronic resource] by Ishmukhametova, Aliya Khau Van Kien, Philippe Méchin, Déborah Thorel, Delphine Vincent, Marie-Claire Rivier, François Coubes, Christine Humbertclaude, Véronique Claustres, Mireille Tuffery-Giraud, Sylvie Producer: 20130619 In: European journal of human genetics : EJHG vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. [electronic resource] by Le Guédard-Méreuze, Sandie Vaché, Christel Baux, David Faugère, Valérie Larrieu, Lise Abadie, Caroline Janecke, Andreas Claustres, Mireille Roux, Anne-Françoise Tuffery-Giraud, Sylvie Producer: 20101029 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 40 results.