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Page 1
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Duval R, et al. Among authors: vrignaud c. Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810. Blood. 2021. PMID: 33763700 Free article.
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.
Azouzi S, Mikdar M, Hermand P, Gautier EF, Salnot V, Willemetz A, Nicolas G, Vrignaud C, Raneri A, Mayeux P, Bole-Feysot C, Nitschké P, Cartron JP, Colin Y, Hermine O, Jedlitschky G, Cloutier M, Constanzo-Yanez J, Ethier C, Robitaille N, St-Louis M, Le Van Kim C, Peyrard T. Azouzi S, et al. Among authors: vrignaud c. Blood. 2020 Feb 6;135(6):441-448. doi: 10.1182/blood.2019002320. Blood. 2020. PMID: 31826245 Free PMC article.
Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.
Koehl B, Vrignaud C, Mikdar M, Nair TS, Yang L, Landry S, Laiguillon G, Giroux-Lathuile C, Anselme-Martin S, El Kenz H, Hermine O, Mohandas N, Cartron JP, Colin Y, Detante O, Marlu R, Le Van Kim C, Carey TE, Azouzi S, Peyrard T. Koehl B, et al. Among authors: vrignaud c. EMBO Mol Med. 2023 Mar 8;15(3):e16320. doi: 10.15252/emmm.202216320. Epub 2023 Jan 25. EMBO Mol Med. 2023. PMID: 36695047 Free PMC article.
The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trial.
Corvol JC, Bonnet C, Charbonnier-Beaupel F, Bonnet AM, Fiévet MH, Bellanger A, Roze E, Meliksetyan G, Ben Djebara M, Hartmann A, Lacomblez L, Vrignaud C, Zahr N, Agid Y, Costentin J, Hulot JS, Vidailhet M. Corvol JC, et al. Among authors: vrignaud c. Ann Neurol. 2011 Jan;69(1):111-8. doi: 10.1002/ana.22155. Ann Neurol. 2011. PMID: 21280081 Clinical Trial.
19 results