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Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
Adams D, Cintas P, Solé G, Tard C, Labeyrie C, Echaniz-Laguna A, Cauquil C, Pereon Y, Magy L, Morales RJ, Antoine JC, Lagrange E, Petiot P, Mallaret M, Francou B, Guiochon-Mantel A, Coste A, Demarcq O, Geffroy C, Famelart V, Rudant J, Bartoli M, Donal E, Lairez O, Eicher JC, Kharoubi M, Oghina S, Trochu JN, Inamo J, Habib G, Roubille F, Hagège A, Morio F, Cariou E, Adda J, Slama MS, Charron P, Algalarrondo V, Damy T, Attarian S. Adams D, et al. Among authors: guiochon mantel a. Rev Neurol (Paris). 2024 Apr 19:S0035-3787(24)00489-2. doi: 10.1016/j.neurol.2024.02.393. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38643028
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia AS, Magdelaine C, Francou B, Guiochon-Mantel A, Malinge MC, Leguern E, Lévy N, Attarian S, Latour P, Bonello-Palot N. Benquey T, et al. Among authors: guiochon mantel a. Genes (Basel). 2022 Feb 9;13(2):318. doi: 10.3390/genes13020318. Genes (Basel). 2022. PMID: 35205364 Free PMC article.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Chappell K, Francou B, Habib C, Huby T, Leoni M, Cottin A, Nadal F, Adnet E, Paoli E, Oliveira C, Verstuyft C, Davit-Spraul A, Gaignard P, Lebigot E, Duclos-Vallee JC, Young J, Kamenicky P, Adams D, Echaniz-Laguna A, Gonzales E, Bouvattier C, Linglart A, Picard V, Bergoin E, Jacquemin E, Guiochon-Mantel A, Proust A, Bouligand J. Chappell K, et al. Among authors: guiochon mantel a. Clin Chem. 2022 Feb 1;68(2):313-321. doi: 10.1093/clinchem/hvab220. Clin Chem. 2022. PMID: 34871369
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq AL, Deméocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, de Herder W, Pattou F, Tétreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenický P. Chasseloup F, et al. Among authors: guiochon mantel a. Lancet Diabetes Endocrinol. 2021 Dec;9(12):813-824. doi: 10.1016/S2213-8587(21)00236-9. Epub 2021 Oct 13. Lancet Diabetes Endocrinol. 2021. PMID: 34655521
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: guiochon mantel a. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Maione L, Fèvre A, Nettore IC, Manilall A, Francou B, Trabado S, Bouligand J, Guiochon-Mantel A, Delemer B, Flanagan CA, Macchia PE, Millar RP, Young J. Maione L, et al. Among authors: guiochon mantel a. Hum Reprod. 2019 Jan 1;34(1):137-147. doi: 10.1093/humrep/dey339. Hum Reprod. 2019. PMID: 30476149
131 results