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Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives.
Houdayer F, Putois O, Babonneau ML, Chaumet H, Joly L, Juif C, Michon CC, Staraci S, Cretin E, Delanoue S, Charron P, Chassagne A, Edery P, Gautier E, Lapointe AS, Thauvin-Robinet C, Sanlaville D, Gargiulo M, Faivre L. Houdayer F, et al. Among authors: joly l. Eur J Med Genet. 2019 Oct;62(10):103711. doi: 10.1016/j.ejmg.2019.103711. Epub 2019 Jun 29. Eur J Med Genet. 2019. PMID: 31265899
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marçais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Rivière JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Béjean S, Peyron C, Faivre L. Chassagne A, et al. Among authors: joly l. Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1. Eur J Hum Genet. 2019. PMID: 30710147 Free PMC article.
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.
Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L. Delanne J, et al. Among authors: joly l. Eur J Med Genet. 2019 Jun;62(6):103529. doi: 10.1016/j.ejmg.2018.08.010. Epub 2018 Aug 28. Eur J Med Genet. 2019. PMID: 30165243 Review.
Written information to patients in clinical genetics: what's the impact?
Cassini C, Thauvin-Robinet C, Vinault S, Binquet C, Coron F, Masurel-Paulet A, Bonithon-Kopp C, Mercier S, Joly L, Huet F, Faivre L. Cassini C, et al. Among authors: joly l. Eur J Med Genet. 2011 May-Jun;54(3):277-80. doi: 10.1016/j.ejmg.2011.03.006. Epub 2011 Mar 21. Eur J Med Genet. 2011. PMID: 21420514
[Genetic testing in asymptomatic minors: a survey among French geneticists].
Joly L, Thauvin-Robinet C, Huet F, Pinoit JM, Contrain A, Cassini C, Coron F, Gautier E, Bonin B, Gargiulo M, Heron D, Dürr A, Faivre L; groupe de génétique prédictive et le groupe de réflexion autour du diagnostic présymptomatique chez les mineurs. Joly L, et al. Arch Pediatr. 2010 Jul;17(7):1000-7. doi: 10.1016/j.arcped.2010.03.016. Epub 2010 May 7. Arch Pediatr. 2010. PMID: 20452194 French.
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: joly l. Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447. Am J Med Genet A. 2008. PMID: 18629884
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Coron F, Rousseau T, Jondeau G, Gautier E, Binquet C, Gouya L, Cusin V, Odent S, Dulac Y, Plauchu H, Collignon P, Delrue MA, Leheup B, Joly L, Huet F, Thevenon J, Mace G, Cassini C, Thauvin-Robinet C, Wolf JE, Hanna N, Sagot P, Boileau C, Faivre L. Coron F, et al. Among authors: joly l. Prenat Diagn. 2012 Dec;32(13):1318-23. doi: 10.1002/pd.4008. Epub 2012 Nov 13. Prenat Diagn. 2012. PMID: 23147988
2023 SFMU/GICC-SFC/SFGG expert recommendations for the emergency management of older patients with acute heart failure. Part 1: Prehospital management and diagnosis.
Peschanski N, Zores F, Boddaert J, Douay B, Delmas C, Broussier A, Douillet D, Berthelot E, Gilbert T, Gil-Jardiné C, Auffret V, Joly L, Guénézan J, Galinier M, Pépin M, Le Conte P, Girerd N, Roca F, Oberlin M, Jourdain P, Rousseau G, Lamblin N, Villoing B, Mouquet F, Dubucs X, Roubille F, Jonchier M, Sabatier R, Laribi S, Salvat M, Chouihed T, Bouillon-Minois JB, Chauvin A, Le Borgne P; Société française de médecine d’urgence (SFMU); Groupe insuffisance cardiaque et cardiomyopathies de la Société française de cardiologie (GICC-SFC); Société française de gériatrie et gérontologie (SFGG). Peschanski N, et al. Among authors: joly l. Arch Cardiovasc Dis. 2024 Sep 2:S1875-2136(24)00288-2. doi: 10.1016/j.acvd.2024.08.002. Online ahead of print. Arch Cardiovasc Dis. 2024. PMID: 39261191 No abstract available.
Testing and characterization of herding dogs' behaviors.
Lasserre B, Ducreux B, Chassier M, Joly L, Cacheux P, Le Morzadec T, Dayde-Fonda S, Gilbert C. Lasserre B, et al. Among authors: joly l. J Anim Sci. 2024 Jan 3;102:skae157. doi: 10.1093/jas/skae157. J Anim Sci. 2024. PMID: 38902885
346 results