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Page 1
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: boileau c. Hepatology. 2024 Jun 1;79(6):1365-1380. doi: 10.1097/HEP.0000000000000667. Epub 2023 Nov 6. Hepatology. 2024. PMID: 37934624
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: boileau c. Am J Med Genet A. 2024 Nov 25:e63923. doi: 10.1002/ajmg.a.63923. Online ahead of print. Am J Med Genet A. 2024. PMID: 39584374
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: boileau c. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Tesi B, et al. Among authors: boileau c. J Intern Med. 2023 Oct;294(4):397-412. doi: 10.1111/joim.13655. Epub 2023 Jun 1. J Intern Med. 2023. PMID: 37211972 Review.
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. Lim MS, et al. Among authors: boileau c. J Med Genet. 2024 Dec 9:jmg-2024-110251. doi: 10.1136/jmg-2024-110251. Online ahead of print. J Med Genet. 2024. PMID: 39653386
Comparative Effectiveness of the Bivalent (Original/Omicron BA.4/BA.5) mRNA COVID-19 Vaccines mRNA-1273.222 and BNT162b2 Bivalent in Adults with Underlying Medical Conditions in the United States.
Kopel H, Nguyen VH, Bogdanov A, Winer I, Boileau C, Ducruet T, Zeng N, Winer-Jones JP, Esposito DB, Bausch-Jurken M, Beck E, Bonafede M, Mansi JA. Kopel H, et al. Among authors: boileau c. Vaccines (Basel). 2024 Sep 27;12(10):1107. doi: 10.3390/vaccines12101107. Vaccines (Basel). 2024. PMID: 39460274 Free PMC article.
A novel AAV9-dual microRNA-vector targeting GRIK2 in the hippocampus as a treatment for mesial temporal lobe epilepsy.
Baudouin SJ, Giles AR, Pearson N, Deforges S, He C, Boileau C, Partouche N, Borta A, Gautron J, Wartel M, Bočkaj I, Scavarda D, Bartolomei F, Penchet G, Aupy J, Sims J, Smith J, Mercer A, Danos O, Mulle C, Crépel V, Porter R. Baudouin SJ, et al. Among authors: boileau c. Mol Ther Methods Clin Dev. 2024 Sep 16;32(4):101342. doi: 10.1016/j.omtm.2024.101342. eCollection 2024 Dec 12. Mol Ther Methods Clin Dev. 2024. PMID: 39429724 Free PMC article.
360 results