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Page 1
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Brakta C, Tabet AC, Puel M, Pacault M, Stolzenberg MC, Goudet C, Merger M, Reumaux H, Lambert N, Alioua N, Malan V, Hanein S, Dupin-Deguine D, Treiner E, Lefèvre G, Farhat MM, Luca LE, Hureaux M, Li H, Chelloug N, Dehak R, Boussion S, Ouachée-Chardin M, Schleinitz N, Abou Chahla W, Barlogis V, Vély F, Oksenhendler E, Quartier P, Pasquet M, Suarez F, Bustamante J, Neven B, Picard C, Rieux-Laucat F, Lévy J, Rosain J. Brakta C, et al. Among authors: hureaux m. J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5. J Clin Immunol. 2024. PMID: 39578275
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Buffet A, Filser M, Bruel A, Dard R, Quibel T, Dubucs C, Kwon T, Le Tanno P, Thevenon J, Ziegler A, Allard L, Guigonis V, Roux JJ, Heidet L, Rougeulle C, Boyer O, Vargas-Poussou R, Hureaux M. Buffet A, et al. Among authors: hureaux m. Genet Med. 2024 Jul 20;27(2):101217. doi: 10.1016/j.gim.2024.101217. Online ahead of print. Genet Med. 2024. PMID: 39036894
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M. Billon C, et al. Among authors: hureaux m. Mol Genet Genomics. 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. Mol Genet Genomics. 2024. PMID: 38625590
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Hernández NEG, Pérez LIE, Aguilera D, Camargo-Muñiz MD, Espinosa CFC, Jaramillo MCR, Salvador C, González ZL, Hureaux M, Vargas-Poussou R. Hernández NEG, et al. Among authors: hureaux m. Arch Med Res. 2023 Sep;54(6):102859. doi: 10.1016/j.arcmed.2023.102859. Epub 2023 Jul 27. Arch Med Res. 2023. PMID: 37516009
[Major advances in pediatric nephro-genetics].
Hureaux M, Heidet L, Vargas-Poussou R, Dorval G. Hureaux M, et al. Med Sci (Paris). 2023 Mar;39(3):234-245. doi: 10.1051/medsci/2023028. Epub 2023 Mar 21. Med Sci (Paris). 2023. PMID: 36943120 Free article. Review. French.
New advances in endocrine hypertension: from genes to biomarkers.
Fernandes-Rosa FL, Boulkroun S, Fedlaoui B, Hureaux M, Travers-Allard S, Drossart T, Favier J, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: hureaux m. Kidney Int. 2023 Mar;103(3):485-500. doi: 10.1016/j.kint.2022.12.021. Epub 2023 Jan 13. Kidney Int. 2023. PMID: 36646167 Review.
30 results