
Publications scientifiques
Les scientifiques de l'IGBMC publient régulièrement dans des revues dédiées à la recherche. Vous trouverez la liste de ces publications ci-dessous.
Publications
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2003
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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
- Sarah L. Nolin
- W. Ted Brown
- Anne Glicksman
- George E. Houck
- Alice D. Gargano
- Amy Sullivan
- Valérie Biancalana
- Karen Bröndum-Nielsen
- Helle Hjalgrim
- Elke Holinski-Feder
- Frank Kooy
- John Longshore
- James Macpherson
- Jean-Louis Mandel
- Gert Matthijs
- François Rousseau
- Peter Steinbach
- Marja-Leena Väisänen
- Harriet von Koskull
- Stephanie L. Sherman
American Journal of Human Genetics ; Volume: 72 ; Page: 454-464
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
- Valérie Biancalana
- Olivier Caron
- Sabina Gallati
- Frank Baas
- Wolfram Kress
- Giuseppe Novelli
- Maria Rosaria d'Apice
- Clotilde Lagier-Tourenne
- Anna Buj-Bello
- Norma B. Romero
- Jean-Louis Mandel
Human Genetics ; Volume: 112 ; Page: 135-142
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A Functional Polymorphism in a STAT5B Site of the Human PPARγ3 Gene Promoter Affects Height and Lipid Metabolism in a French Population
- Aline Meirhaeghe
- Lluis Fajas
- Fabrice Gouilleux
- Dominique Cottel
- Nicole Helbecque
- Johan Auwerx
- Philippe Amouyel
Arteriosclerosis, Thrombosis, and Vascular Biology ; Volume: 23 ; Page: 289-294
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Multiple regulatory elements with spatially and temporally distinct activities control neurogenin1 expression in primary neurons of the zebrafish embryo
- Patrick Blader
- Charles Plessy
- Uwe Strähle
Mechanisms of Development ; Volume: 120 ; Page: 211-218
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
- Valérie Biancalana
- Olivier Caron
- Sabina Gallati
- Frank Baas
- Wolfram Kress
- Giuseppe Novelli
- Maria d'Apice
- Clotilde Lagier-Tourenne
- Anna Buj-Bello
- Norma Romero
- Jean-Louis Mandel
Human Genetics ; Volume: 112 ; Page: 135-142
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Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
- Hélène Dollfus
- C. Stoetzel
- S. Riehm
- W. Lahlou Boukoffa
- F. Bediard Boulaneb
- R. Quillet
- M. Abu-Eid
- C. Speeg-Schatz
- J. J. Francfort
- J. Flament
- F. Veillon
- F. Perrin-Schmitt
Clinical Genetics ; Volume: 63 ; Page: 117-120
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Novel subunits of the TATA binding protein free TAFII-containing transcription complex identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry following one-dimensional gel electrophoresis
- Nükhet Cavusoglu
- Marjorie Brand
- Laszlo Tora
- Alain van Dorsselaer
Proteomics ; Volume: 3 ; Page: 217-223
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Knockout mice as model systems for studying nm23/NDP kinase gene functions. Application to the nm23-M1 gene
- S. Arnaud-Dabernat
- P. M. Bourbon
- Andrée Dierich
- Marianne Le Meur
- Jean Yves Daniel
Journal of Bioenergetics and Biomembranes ; Volume: 35 ; Page: 19-30
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Acute antinociceptive responses in single and combinatorial opioid receptor knockout mice: distinct mu, delta and kappa tones
- Miquel Martin
- Audrey Matifas
- Rafael Maldonado
- Brigitte L. Kieffer
European Journal of Neuroscience ; Volume: 17 ; Page: 701-708
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Estradiol enhances primary antigen-specific CD4 T cell responses and Th1 development in vivo. Essential role of estrogen receptor alpha expression in hematopoietic cells
- Arlette Maret
- Jérôme D. Coudert
- Lucile Garidou
- Gilles Foucras
- Pierre Gourdy
- Andrée Krust
- Sonia Dupont
- Pierre Chambon
- Philippe Druet
- Francis Bayard
- Jean-Charles Guéry
European Journal of Immunology ; Volume: 33 ; Page: 512-521
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