Scientific publications
Publications
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2006
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Retinoic acid signalling is required for specification of pronephric cell fate.
- Jérôme Cartry
- Massimo Nichane
- Vanessa Ribes
- Alexandre Colas
- Jean-Francois Riou
- Tomas Pieler
- Pascal Dollé
- Eric J Bellefroid
- Muriel Umbhauer
Developmental Biology ; Volume: 299 ; Page: 35-51
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A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
- Valérie Tosch
- Holger M Rohde
- Hélène Tronchère
- Edmar Zanoteli
- Nancy Monroy
- Christine Kretz
- Nicolas Dondaine
- Bernard Payrastre
- Jean-Louis Mandel
- Jocelyn Laporte
Human Molecular Genetics ; Volume: 15 ; Page: 3098-106
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The columnar gene vnd is required for tritocerebral neuromere formation during embryonic brain development of Drosophila.
- Simon G Sprecher
- Rolf Urbach
- Gerhard M Technau
- Filippo M Rijli
- Heinrich Reichert
- Frank Hirth
Development (Cambridge, England) ; Volume: 133 ; Page: 4331-9
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PGC1alpha expression is controlled in skeletal muscles by PPARbeta, whose ablation results in fiber-type switching, obesity, and type 2 diabetes.
- Michael Schuler
- Faisal Ali
- Céline Chambon
- Delphine Duteil
- Jean-Marc Bornert
- Aubry Tardivel
- Béatrice Desvergne
- Walter Wahli
- Pierre Chambon
- Daniel Metzger
Cell Metabolism ; Volume: 4 ; Page: 407-14
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Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
- Virginie Laurier
- Corinne Stoetzel
- Jean Muller
- Christelle Thibault
- Sandra Corbani
- Nadine Jalkh
- Nabiha Salem
- Eliane Chouery
- Olivier Poch
- Serge Licaire
- Jean-Marc Danse
- Patricia Amati-Bonneau
- Dominique Bonneau
- André Mégarbané
- Jean-Louis Mandel
- Hélène Dollfus
European Journal of Human Genetics ; Volume: 14 ; Page: 1195-203
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Bardet-Biedl syndrome: a unique family for a major gene (BBS10)
- Hélène Dollfus
- Jean Muller
- Corinne Stoetzel
- Virginie Laurier
- Dominique Bonneau
- André Mégarbané
- Olivier Poch
- Jean-Louis Mandel
Médecine/Sciences ; Volume: 22 ; Page: 901-4
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Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
- Céline Moutou
- Nadejda Machev
- Nathalie Gardes
- Stéphane Viville
Prenatal Diagnosis ; Volume: 26 ; Page: 1037-41
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Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur ( BBS10 )
- Hélène Dollfus
- Jean Muller
- Corinne Stoetzel
- Virginie Laurier
- Dominique Bonneau
- André Mégarbané
- Olivier Poch
- Jean-Louis Mandel
Médecine/Sciences ; Volume: 22 ; Page: 901-904
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Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
- Paul Laissue
- Silvia Copelli
- Ignacio Bergada
- Cesar Bergada
- Gabriel Barrio
- Sinan Karaboga
- Jean Marie Wurtz
- Marc Fellous
- Enzo Lalli
- Reiner A Veitia
Clinical Endocrinology ; Volume: 65 ; Page: 681-6
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Capturing protein–protein complexes at equilibrium: The holdup comparative chromatographic retention assay
- Sebastian Charbonnier
- Katia Zanier
- Murielle Masson
- Gilles Travé
Protein Expression and Purification ; Volume: 50 ; Page: 89-101
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