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Page 1
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: quevarec l. 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.
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J. Maluenda J, et al. Among authors: quevarec l. Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616481 Free PMC article.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Xue S, et al. Among authors: quevarec l. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318499 Free PMC article.
Tracking the early events of photosymbiosis evolution.
Quevarec L, Brasseur G, Aragnol D, Robaglia C. Quevarec L, et al. Trends Plant Sci. 2024 Apr;29(4):406-412. doi: 10.1016/j.tplants.2023.11.005. Epub 2023 Nov 27. Trends Plant Sci. 2024. PMID: 38016867 Review.
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