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Page 1
Role of Ciliary Neurotrophic Factor in Angiotensin II-Induced Hypertension.
Potthoff SA, Quack I, Mori Y, Yang G, Arifaj D, Amin E, Meister J, Meuth SG, Kantauskaite M, Argov D, Alesutan I, Voelkl J, Park JK, Rump LC, Rio M, Loirand G, Linker RA, Stegbauer J. Potthoff SA, et al. Among authors: rio m. Hypertension. 2025 Jan 24. doi: 10.1161/HYPERTENSIONAHA.124.22845. Online ahead of print. Hypertension. 2025. PMID: 39851048
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T. Colson C, et al. Among authors: rio m. Clin Genet. 2024 Dec 29. doi: 10.1111/cge.14688. Online ahead of print. Clin Genet. 2024. PMID: 39837771
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A. Jeanne M, et al. Among authors: rio m. J Med Genet. 2025 Jan 11:jmg-2022-108868. doi: 10.1136/jmg-2022-108868. Online ahead of print. J Med Genet. 2025. PMID: 39798962
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
Hennocq Q, Lienhard O, Rao D, Amiel J, Benichou L, Bongibault T, Hidalgo AB, Cormier-Daire V, Lyonnet S, Picard A, Rio M, Zaiter A, Garcelon N, Tkemaladze T, Khonsari RH. Hennocq Q, et al. Among authors: rio m. Clin Genet. 2024 Dec 26. doi: 10.1111/cge.14682. Online ahead of print. Clin Genet. 2024. PMID: 39726094
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: rio m. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
Resistant and refractory migraine - two different entities with different comorbidities? Results from the REFINE study.
Rosignoli C, Ornello R, Caponnetto V, Onofri A, Avaltroni S, Braschinsky M, Šved O, Gil-Gouveia R, Lampl C, Paungarttner J, Martelletti P, Wells-Gatnik WD, Martins IP, Mitsikostas D, Apostolakopoulou L, Nabaei G, Ozge A, Narin DB, Pozo-Rosich P, Muñoz-Vendrell A, Prudenzano MP, Gentile M, Ryliskiene K, Vainauskiene J, Del Rio MS, Vernieri F, Iaccarino G, Waliszewska-Prosol M, Budrewicz S, Carnovali M, Katsarava Z, Sacco S. Rosignoli C, et al. Among authors: del rio ms. J Headache Pain. 2024 Dec 3;25(1):212. doi: 10.1186/s10194-024-01910-3. J Headache Pain. 2024. PMID: 39627727 Free PMC article.
A Contemporary Picture of Coagulase-Negative Staphylococcal Endocarditis: A Nationwide GAMES Cohort Study.
Palom-Grau C, Cuervo G, Muñoz P, Marín Arriaza M, Martínez-Sellés M, González-Ramallo V, de Alarcón A, Poyato-Borrego M, Rodríguez-García R, Rodríguez-Esteban MÁ, Fariñas MC, González-Rico C, Goenaga MÁ, Ojeda-Burgos G, Goikoetxea-Agirre AJ, Calderón-Parra J, López-Azor JC, García-Vázquez E, Loeches B, Quintana E, García de la Mària C, Llopis J, Miró JM; GAMES Investigators. Palom-Grau C, et al. J Am Coll Cardiol. 2024 Oct 25:S0735-1097(24)08573-5. doi: 10.1016/j.jacc.2024.09.027. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 39580721
1,138 results