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Page 1
[Genetic diffuse cystic lung disease in adults].
Diesler R, Ahmad K, Chalabreysse L, Glérant JC, Harzallah I, Touraine R, Si-Mohamed S, Cottin V. Diesler R, et al. Among authors: touraine r. Rev Mal Respir. 2024 Jan;41(1):69-88. doi: 10.1016/j.rmr.2023.08.005. Epub 2023 Nov 10. Rev Mal Respir. 2024. PMID: 37951745 Review. French.
Genotyping methods for Fuchs corneal endothelial dystrophy.
Onitiu D, Harzallah I, Vaitinadapoule H, Mascarelli F, Touraine R, He Z, Dorado-Cortez O, Trone MC, Gain P, Thuret G. Onitiu D, et al. Among authors: touraine r. J Fr Ophtalmol. 2025 May;48(5):104509. doi: 10.1016/j.jfo.2025.104509. Epub 2025 Apr 4. J Fr Ophtalmol. 2025. PMID: 40186897 Review.
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Delinière A, Mulatier C, Cheillan D, Gheurbi F, Buchy M, Dufay N, Moulin-Zinsch A, Bertail-Galoin C, Sabour M, Aarab M, Perouse de Montclos T, Ouvrier-Buffet D, Boisson A, Stos B, Rharbaoui M, Remerand G, Barnerias C, Brassier A, Goldenberg A, Roubertie A, Lion-François L, Marignier S, De Lonlay P, Mochel F, Navarro V, Lespinasse J, Lacombe D, Touraine R, Rheims S, des Portes V, Chevalier P, Curie A. Delinière A, et al. Among authors: touraine r. Heart Rhythm. 2025 Nov 14:S1547-5271(25)03068-1. doi: 10.1016/j.hrthm.2025.11.017. Online ahead of print. Heart Rhythm. 2025. PMID: 41242588 Free article.
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.
Serey-Gaut M, Balogoun R, Jonard L, Lina-Granade G, Touraine R, Willems M, Hepp N, Rendtorff ND, Bertelsen M, Loundon N, Couloigner V, Lemiere I, de Oliveira J, Romana S, Porteret C, Blanc P, Mansard L, Marlin S, Roux AF, Pingault V. Serey-Gaut M, et al. Among authors: touraine r. Hum Genet. 2025 Apr;144(4):433-441. doi: 10.1007/s00439-025-02730-4. Epub 2025 Feb 7. Hum Genet. 2025. PMID: 39918572
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.
Racine C, Callier P, Touraine R, Vitobello A, Hanna N, Arnaud P, Jondeau G, Boileau C, Thauvin-Robinet C, Creveaux I, Gatinois V, Willems M, Faivre L. Racine C, et al. Among authors: touraine r. Am J Med Genet A. 2025 Apr;197(4):e63923. doi: 10.1002/ajmg.a.63923. Epub 2024 Nov 25. Am J Med Genet A. 2025. PMID: 39584374
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: touraine r. Ann Clin Transl Neurol. 2024 Sep;11(9):2392-2405. doi: 10.1002/acn3.52154. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2024. PMID: 39095936 Free PMC article.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
623 results