Bibliographie
Articles grand public
Un article publié dans le New Yorker en 2007 (version originale)
Un article publié dans le New Yorker en 2007 (traduction en français)
Publications scientifiques
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
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
Frédéric Lioté and Irène Ceballos-Picot
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
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
James C. Harris, Stephen G. Reich and Juan G. Puig for the Lesch–Nyhan Disease International Study Group
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 utility gene card for: Lesch–Nyhan syndrome
Rosa J Torres, Juan G Puig and Irène Ceballos-Picot
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
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
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
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
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