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Page 1
SOD1-related ALS with anticipation in a large family from Martinique.
Giguet-Valard AG, Bellance R, Jeannin S, Duclos S, Olive P, Allard-Saint-Albin O, Cazeneuve C, Clot F, Sophie PV, Barnetche T, Smith-Ravin J, Goizet C. Giguet-Valard AG, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):545-551. doi: 10.1080/21678421.2021.1900870. Epub 2021 Mar 23. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33754899
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Giguet-Valard AG, Thevenin C, Dreux S, Decatrelle V, Juve ML, Yazza S, Adenet C, Lesueur M, Bouvagnet P, Gueneret M. Giguet-Valard AG, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2397. doi: 10.1002/mgg3.2397. Mol Genet Genomic Med. 2024. PMID: 38351708 Free PMC article.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Liu H, Giguet-Valard AG, Simonet T, Szenker-Ravi E, Lambert L, Vincent-Delorme C, Scheidecker S, Fradin M, Morice-Picard F, Naudion S, Ciorna-Monferrato V, Colin E, Fellmann F, Blesson S, Jouk PS, Francannet C, Petit F, Moutton S, Lehalle D, Chassaing N, El Zein L, Bazin A, Bénéteau C, Attié-Bitach T, Hanu SM, Brechard MP, Chiesa J, Pasquier L, Rooryck-Thambo C, Van Maldergem L, Cabrol C, El Chehadeh S, Vasiljevic A, Isidor B, Abel C, Thevenon J, Di Filippo S, Vigouroux-Castera A, Attia J, Quelin C, Odent S, Piard J, Giuliano F, Putoux A, Khau Van Kien P, Yardin C, Touraine R, Reversade B, Bouvagnet P. Liu H, et al. Among authors: giguet valard ag. Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 33131162
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. Messiaen C, et al. Orphanet J Rare Dis. 2021 Aug 4;16(1):345. doi: 10.1186/s13023-021-01957-4. Orphanet J Rare Dis. 2021. PMID: 34348744 Free PMC article.