Bibliographie

 

 


Articles grand public


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Un article publié dans le New Yorker en 2007 (version originale)
Richard Preston NewYorker Lesch-Nyhan 13
Document Adobe Acrobat 184.1 KB
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Un article publié dans le New Yorker en 2007 (traduction en français)
Richard Preston NewYorker Lesch-Nyhan 13
Document Adobe Acrobat 72.0 KB

 

 

 


Publications scientifiques


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Decreased Kidney Function and Crystal Deposition in the Tubules After Kidney Transplant
Piero Stratta, MD, Giovanni Battista Fogazzi, MD, Caterina Canavese, MD, Andrea Airoldi, MD, Roberta Fenoglio, MD, Cristina Bozzola, MD, Irène Ceballos-Picot, PharmD, PhD, Guillaume Bollée, MD, and Michel Daudon, PharmD, PhD
American Journal of Kidney Diseases - 20
Document Adobe Acrobat 1.2 MB
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Severe Gouty Arthritis and Mild Neurologic Symptoms Due to F199C, a Newly Identified Variant of the Hypoxanthine Guanine Phosphoribosyltransferase
Hang-Korng Ea, Thomas Bardin, H. A. Jinnah, Bernard Aral,
Frédéric Lioté and Irène Ceballos-Picot
Arthritis and Rheumatism - 2009.pdf
Document Adobe Acrobat 190.9 KB
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Delineation of the motor disorder of Lesch–Nyhan disease
H. A. Jinnah, Jasper E. Visser, James C. Harris, Alfonso Verdu, Laura Larovere, Irene Ceballos-Picot, Pedro Gonzalez-Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David J. Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William Nyhan, Raquel De Kremer, Gary E. Eddey, Juan G. Puig and Stephen G. Reich for the Lesch–Nyhan Disease International Study Group
Brain - 2006.pdf
Document Adobe Acrobat 200.3 KB
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Attenuated variants of Lesch–Nyhan disease
H. A. Jinnah, Irene Ceballos-Picot, Rosa J. Torres, Jasper E. Visser, David J. Schretlen, Alfonso Verdu, Laura E. Laróvere, Chung-Jen Chen, Antonello Cossu, Chien-Hui Wu, Radhika Sampat, Shun-Jen Chang, Raquel Dodelson de Kremer, William Nyhan,
James C. Harris, Stephen G. Reich and Juan G. Puig for the Lesch–Nyhan Disease International Study Group
Brain - 2010.pdf
Document Adobe Acrobat 449.3 KB
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Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency
I Ceballos-Picot, G Guest, V Moriniere, L Mockel, M Daudon, V Malan, C Antignac, L Heidet
Clinical Genetics - 2011.pdf
Document Adobe Acrobat 665.6 KB
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Clinical utility gene card for: Lesch–Nyhan syndrome
Rosa J Torres, Juan G Puig and Irène Ceballos-Picot
European Journal of Human Genetics - 201
Document Adobe Acrobat 186.5 KB
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Mechanisms for phenotypic variation in Lesch–Nyhan disease and its variants
Radhika Sampat, Rong Fu, Laura E. Larovere, Rosa J. Torres, Irene Ceballos-Picot, Michel Fischbach, Raquel de Kremer, David J. Schretlen, Juan Garcia Puig, H. A. Jinnah
Human Genetics - 2011.pdf
Document Adobe Acrobat 520.5 KB
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Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis
Irene Ceballos-Picot, Lionel Mockel, Marie-Claude Potier, Luce Dauphinot, Thomas L. Shirley, Raoul Torero-Ibad, Julia Fuchs and H.A. Jinnah
Human Molecular Genetics - 2009.pdf
Document Adobe Acrobat 235.8 KB
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A human neuronal tissue culture model for Lesch-Nyhan disease
Thomas L. Shirley, J. Chris Lewers, Kiyoshi Egami, Alokes Majumdar, Mairead Kelly, Irene Ceballos-Picot, Michael M. Seidman and H. A. Jinnah
Journal of Neurochemistry - 2007.pdf
Document Adobe Acrobat 659.5 KB
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Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency
Guillaume Bollée, Cécile Dollinger, Lucile Boutaud, Delphine Guillemot, Albert Bensman, Jérôme Harambat, Patrice Deteix, Michel Daudon, Bertrand Knebelmann, and Irène Ceballos-Picot
Journal of the American Society of Nephr
Document Adobe Acrobat 359.9 KB
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Speech Disturbances in Patients With Dystonia or Chorea Due to Neurometabolic Disorders
Constance Flamand-Rouvière, ST, Emilie Guettard, MD, Caroline Moreau, MD, Nadia Bahi-Buisson, MD, PHD, Vassili Valayannopoulos, MD, David Grabli, MD, PHD, Jacques Motte, MD, PHD, Diana Rodriguez, MD, PHD, Agathe Roubertie, MD, PHD, Lisa Maintigneux, ST, Isabelle Kemlin, MD, Irène Ceballos-Picot, PHARMD, PHD, David Adams, MD, PHD, Marie Vidailhet, MD, and Emmanuel Roze, MD, PHD
Movement Disorders - 2010.pdf
Document Adobe Acrobat 336.1 KB