Scientific publications
Publications
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1998
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Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
- Stephan M. Tanner
- Jocelyn Laporte
- Chrsitophe Guiraud-Chaumeil
- Sabina Liechti-Gallati
Human Mutation ; Volume: 11 ; Page: 62-68
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Therapeutic potential of selective modulators of nuclear receptor action
- Michèle Resche-Rigon
- Hinrich Gronemeyer
Current Opinion in Chemical Biology ; Volume: 2 ; Page: 501-507
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Expression in Escherichia coli of Y5 mutant and N-terminal domain-deleted DNA gyrase B proteins affects strongly plasmid maintenance
- Laurent Brino
- Marc Mousli
- Pierre Oudet
- Etienne Weiss
Plasmid ; Volume: 39 ; Page: 21-34
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Germline mosaicism in Coffin-Lowry syndrome
- Sylvie Jacquot
- Karine Merienne
- Solange Pannetier
- Sandra Blumenfeld
- Albert Schinzel
- Andre Hanauer
European Journal of Human Genetics ; Volume: 6 ; Page: 578-582
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Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy
- Jocelyn Laporte
- Christophe Guiraud-Chaumeil
- Stephan M. Tanner
- François Blondeau
- Ling-Jia Hu
- Sabrina Vicaire
- Sabina Liechti-Gallati
- Jean-Louis Mandel
European Journal of Human Genetics ; Volume: 6 ; Page: 325-330
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Identification and in situ hybridization mapping of a mouse <i>Tpd52l1 </i>(D53) orthologue to chromosome 10A4–B2
- J.A. Byrne
- M.G. Mattei
- Paul Basset
- P. Gunning
Cytogenetic and Genome Research ; Volume: 81 ; Page: 199-201
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tRNA/aminoacyl-tRNA synthetase interactions
- J. G. Arnez
- Dino Moras
RNA Structure and Function ; Volume: 35 ; Page: 465-494
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A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11
- S. C. Deqaqi
- M. N'Guessan
- J. Forner
- A. Sbiti
- C. Beldjord
- Jamel Chelly
- A. Sefiani
- Vincent Des Portes
Annales de Génétique ; Volume: 41 ; Page: 11-16
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In situ hybridization with 35S-labeled probes for retinoid receptors
- Karen Niederreither
- Pascal Dollé
Methods in Molecular Biology ; Volume: 89 ; Page: 247-267
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Le xeroderma pigmentosum, ou comment l'absence d'interaction entre une hélicase et son régulateur est à l'origine d'une maladie génétique.
- Frédéric Coin
- Jean-Christophe Marinoni
- Jean-Marc Egly
Médecine/Sciences ; Volume: 14 ; Page: 1289-1291
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