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Page 1
Diagnosis and Outcomes of Late-Onset Wilson's Disease: A National Registry-Based Study.
Nilles C, Obadia MA, Sobesky R, Dumortier J, Guillaud O, Laurencin C, Moreau C, Vanlemmens C, Ory-Magne F, de Ledinghen V, Bardou-Jacquet E, Fluchère F, Collet C, Oussedik-Djebrani N, Woimant F, Poujois A. Nilles C, et al. Among authors: collet c. Mov Disord. 2023 Feb;38(2):321-332. doi: 10.1002/mds.29292. Epub 2022 Dec 27. Mov Disord. 2023. PMID: 36573661
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Happ HC, et al. Among authors: collet c. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.
Bardin T, Ducrot YM, Nguyen Q, Letavernier E, Zaworski J, Ea HK, Touzain F, Do MD, Colot J, Barguil Y, Biron A, Resche-Rigon M, Richette P, Collet C. Bardin T, et al. Among authors: collet c. Rheumatology (Oxford). 2023 Dec 1;62(12):3978-3983. doi: 10.1093/rheumatology/kead118. Rheumatology (Oxford). 2023. PMID: 37021930
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM. Tooze RS, et al. Among authors: collet c. Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5. Genet Med. 2023. PMID: 37154149 Free article.
[Hormone anti-müllérienne (AMH) en pédiatrie : établissement de valeurs de référence avec le dosage de l'AMH Fujirebio® Lumipulse G et comparaison avec le dosage Roche® Elecsys sur les mêmes échantillons pédiatriques].
Delaye JB, Le Tilly O, Enard E, Collet C, Emond P, Dufour-Rainfray D. Delaye JB, et al. Among authors: collet c. Ann Biol Clin (Paris). 2024 Apr 19;82(1):59-69. doi: 10.1684/abc.2024.1867. Ann Biol Clin (Paris). 2024. PMID: 38638019 French.
Impact of vessel volume on thermodilution measurements in patients with coronary microvascular dysfunction.
Sakai K, Storozhenko T, Mizukami T, Ohashi H, Bouisset F, Tajima A, van Hoe L, Gallinoro E, Botti G, Mahendiran T, Pardaens S, Brouwers S, Fawaz S, Keeble TR, Davies JR, Sonck J, De Bruyne B, Collet C. Sakai K, et al. Among authors: collet c. Catheter Cardiovasc Interv. 2024 Apr 2. doi: 10.1002/ccd.31020. Online ahead of print. Catheter Cardiovasc Interv. 2024. PMID: 38566527
Honeybee CaV4 has distinct permeation, inactivation, and pharmacology from homologous NaV channels.
Bertaud A, Cens T, Chavanieu A, Estaran S, Rousset M, Soussi L, Ménard C, Kadala A, Collet C, Dutertre S, Bois P, Gosselin-Badaroudine P, Thibaud JB, Roussel J, Vignes M, Chahine M, Charnet P. Bertaud A, et al. Among authors: collet c. J Gen Physiol. 2024 May 6;156(5):e202313509. doi: 10.1085/jgp.202313509. Epub 2024 Apr 1. J Gen Physiol. 2024. PMID: 38557788
618 results