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Page 1
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.
Hermida A, Ader F, Millat G, Jedraszak G, Vogel L, Garçon L, Maury P, Fay F, Beyls C, Bréhin AC, Champ-Rigot L, Dauphin C, Dauriat B, De Groote P, Donal E, Dupin-Deguine D, Faivre L, Janin A, Jobbe Duval A, Jondeau G, Laredo M, Magnin I, Marijon E, Nguyen K, Palmyre A, Perani A, Picard F, Reant P, Richard P, Rooryck C, Roubille F, Rouzier C, Toutain A, Vernier A, Winum PF, Scarlatti D, Sacher F, Diouf M, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: rouzier c. Circ Heart Fail. 2025 Jan 17:e012492. doi: 10.1161/CIRCHEARTFAILURE.124.012492. Online ahead of print. Circ Heart Fail. 2025. PMID: 39823286 No abstract available.
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France].
Gorokhova S, Rouzier C, Acquaviva-Bourdain C, Baert-Desurmont S, Caputo S, Chatron N, Coulet F, Doco-Fenzy M, Keren B, Le Marechal C, Nicolas G, Procaccio V, Richard P, Romanet P, Snanoudj S, Muller J, Krahn M, Saugier-Veber P. Gorokhova S, et al. Among authors: rouzier c. Med Sci (Paris). 2024 Oct;40(10):767-769. doi: 10.1051/medsci/2024104. Epub 2024 Oct 25. Med Sci (Paris). 2024. PMID: 39450962 French. No abstract available.
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: rouzier c. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: rouzier c. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, Pegat A, Rozet JM. Gerber S, et al. Among authors: rouzier c. EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11. EMBO Mol Med. 2023. PMID: 37431816 Free PMC article.
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Bansept C, et al. Among authors: rouzier c. Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9. Mitochondrion. 2023. PMID: 36509339
62 results