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First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A. Rive Le Gouard N, et al. Clin Genet. 2021 Apr;99(4):519-528. doi: 10.1111/cge.13906. Epub 2021 Jan 5. Clin Genet. 2021. PMID: 33368193
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M. Mani R, et al. Among authors: rive le gouard n. Hum Mutat. 2020 Jan;41(1):115-121. doi: 10.1002/humu.23905. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31469207
Aortic Tissue Analysis in Turner Syndrome.
Donadille B, Valent A, Amemiya K, Rive le Gouard N, Iserin L, Achouh P, Lecot-Connan T, Bruneval P, Siffroi JP, Christin-Maitre S. Donadille B, et al. Among authors: rive le gouard n. J Am Coll Cardiol. 2022 Sep 27;80(13):1284-1285. doi: 10.1016/j.jacc.2022.07.017. J Am Coll Cardiol. 2022. PMID: 36137678 Free article. No abstract available.