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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: salaun g. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F. Capron C, et al. Among authors: salaun g. Andrology. 2022 Nov;10(8):1625-1631. doi: 10.1111/andr.13279. Epub 2022 Sep 7. Andrology. 2022. PMID: 36026611 Free article.
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: salaun g. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P. Goumy C, et al. Among authors: salaun g. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27346851
Optical genome mapping for prenatal diagnosis: A prospective study.
Goumy C, Guy Ouedraogo Z, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A. Goumy C, et al. Among authors: salaun g. Clin Chim Acta. 2023 Nov 1;551:117594. doi: 10.1016/j.cca.2023.117594. Epub 2023 Oct 12. Clin Chim Acta. 2023. PMID: 37832906
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Goumy C, Ouedraogo ZG, Bellemonte E, Eymard-Pierre E, Soler G, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Véronèse L, Laurichesse H, Darcha C, Tchirkov A. Goumy C, et al. Among authors: salaun g. Diagnostics (Basel). 2023 Nov 30;13(23):3576. doi: 10.3390/diagnostics13233576. Diagnostics (Basel). 2023. PMID: 38066817 Free PMC article.
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