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Prenatal diagnosis of bowel malposition using T2-weighted fetal MRI sequences.
Kheiri M, Lesieur E, Dabadie A, Colombani M, Capelle M, Sigaudy S, Guidicelli B, Heckenroth H, Delagausie P, Pico H, Philip N, Bretelle F, Gorincour G. Kheiri M, et al. Among authors: sigaudy s. Diagn Interv Imaging. 2016 Sep;97(9):857-61. doi: 10.1016/j.diii.2016.01.010. Epub 2016 Mar 15. Diagn Interv Imaging. 2016. PMID: 26993965 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: sigaudy s. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: sigaudy s. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. Among authors: sigaudy s. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
Neonatal death in Marshall-Smith syndrome.
Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: sigaudy s. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581
134 results