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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: vivanti 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.
Intermediate-dose versus low-dose low-molecular-weight heparin in pregnant and post-partum women with a history of venous thromboembolism (Highlow study): an open-label, multicentre, randomised, controlled trial.
Bistervels IM, Buchmüller A, Wiegers HMG, Ní Áinle F, Tardy B, Donnelly J, Verhamme P, Jacobsen AF, Hansen AT, Rodger MA, DeSancho MT, Shmakov RG, van Es N, Prins MH, Chauleur C, Middeldorp S; Highlow Block writing committee; Highlow Investigators. Bistervels IM, et al. Lancet. 2022 Nov 19;400(10365):1777-1787. doi: 10.1016/S0140-6736(22)02128-6. Epub 2022 Oct 28. Lancet. 2022. PMID: 36354038 Clinical Trial.
Community Versus Vertically Acquired Neonatal SARS-CoV-2 Infection: The EPICENTRE Cohort Study.
De Luca D, Perkins E, Tingay DG; European Society of Pediatric and Neonatal Intensive Care COVID-19 Paediatric and Neonatal Registry Group; European society of pediatric and neonatal intensive care covid-19 paediatric and neonatal registry (EPICENTRE) group - group authorship; European Society of Pediatric and Neonatal Intensive Care COVID-19 Paediatric and Neonatal Registry Group and European society of pediatric and neonatal intensive care covid-19 paediatric and neonatal registry (EPICENTRE) group - group authorship. De Luca D, et al. Pediatr Infect Dis J. 2023 Aug 1;42(8):685-687. doi: 10.1097/INF.0000000000003950. Epub 2023 Apr 18. Pediatr Infect Dis J. 2023. PMID: 37463390 Free PMC article.
Born into an isolating world: family-centred care for babies born to mothers with COVID-19.
Dowse G, Perkins EJ, Stein HM, Chidini G, Danhaive O, Elsayed YN, Carvalho WB, AlNaqeeb N, Rooze S, Cetinkaya M, Vetter-Laracy S, Pilar-Orive FJ, Torpiano P, Gonçalves Ferri WA, Buonsenso D, Rogdo B, Medina A, Polito A, Brouwer CNM, Kneyber MCJ, De Luca D, Tingay DG; ESPNIC COVID-19 Paediatric and Neonatal (EPICENTRE) Registry. Dowse G, et al. EClinicalMedicine. 2023 Feb;56:101822. doi: 10.1016/j.eclinm.2022.101822. Epub 2023 Feb 21. EClinicalMedicine. 2023. PMID: 36846297 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: vivanti a. 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.
143 results