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Page 1
Neonatal Diabetes Mellitus.
Beltrand J, Busiah K, Vaivre-Douret L, Fauret AL, Berdugo M, Cavé H, Polak M. Beltrand J, et al. Among authors: fauret al. Front Pediatr. 2020 Sep 30;8:540718. doi: 10.3389/fped.2020.540718. eCollection 2020. Front Pediatr. 2020. PMID: 33102403 Free PMC article. Review.
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Among authors: fauret al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: fauret al. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
The Two Faces of Pediatric SCA2.
Rive Le Gouard N, G Bah M, Coarelli G, Heinzmann A, Fauret AL, de Sainte-Agathe JM, Cazeneuve C, Gerasimenko A, Gras D, Capri Y, Renaud M, Brais B, Grenenko C, Masurel A, Berquin P, Jobic F, Métreau J, Deiva K, Afenjar A, Gravrand V, Lannuzel A, Anheim M, Geis T, Hehr U, Madan Cohen J, Desnous B, J A Kievit A, Bahi-Buisson N, Rodriguez D, Renaldo F, Cances C, Devos D, Angelini C, Goizet C, Ewenczyk C, Durr A, Mignot C. Rive Le Gouard N, et al. Among authors: fauret al. Eur J Neurol. 2025 Aug;32(8):e70314. doi: 10.1111/ene.70314. Eur J Neurol. 2025. PMID: 40741828 Free PMC article.
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.
Corcia P, Erazo D, Amador MDM, Beltran S, Bernard E, Blasco H, Boutoleau-Bretonniere C, Bruneteau G, Camdessanche JP, Camu W, Cassereau J, Choumert A, Codron P, Cintas P, De La Cruz E, Danel V, Desnuelle C, Eyraud N, Esselin F, Fauret AL, Lefilliatre M, Fleury MC, Genestet S, Grapperon AM, Guy N, Jacquin-Piques A, Beauvais K, Lautrette G, Le Masson G, Mathis S, Piegay AS, Pittion-Vouyovitch S, Sauleau P, Soriani MH, Vershueren A, Mouzat K, Guissart C, Couratier P, Vourc'h P. Corcia P, et al. Among authors: fauret al. Eur J Neurol. 2025 Aug;32(8):e70302. doi: 10.1111/ene.70302. Eur J Neurol. 2025. PMID: 40751342 Free PMC article.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: fauret al. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum.
Zuily S, Angioi K, Fauret AL, Golmard L, Saadi L, Huttin O, Anxionnat R, Evon P, Marie PY, Jeunemaitre X, Wahl D. Zuily S, et al. Among authors: fauret al. J Am Coll Cardiol. 2012 May 29;59(22):1991. doi: 10.1016/j.jacc.2011.11.067. J Am Coll Cardiol. 2012. PMID: 22624841 Free article. No abstract available.
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.
Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, Fauret AL, Fiessinger JN, Germain DP, Georgesco G, Hulot JS, De Paepe A, Plauchu H, Jeunemaitre X, Laurent S, Boutouyrie P. Ong KT, et al. Among authors: fauret al. Lancet. 2010 Oct 30;376(9751):1476-84. doi: 10.1016/S0140-6736(10)60960-9. Epub 2010 Sep 7. Lancet. 2010. PMID: 20825986 Clinical Trial.
12 results