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Page 1
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D. Leclerc D, et al. Among authors: jaillard s. CRISPR J. 2023 Feb;6(1):17-31. doi: 10.1089/crispr.2022.0045. Epub 2023 Jan 11. CRISPR J. 2023. PMID: 36629845 Free PMC article.
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA. Mary L, et al. Among authors: jaillard s. Eur J Med Genet. 2023 Jun;66(6):104748. doi: 10.1016/j.ejmg.2023.104748. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948288 Free article. Review.
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Lokchine A, Bergougnoux A, Servant N, Akloul L, Launay E, Mary L, Cluzeau L, Philippe M, Domin-Bernhard M, Duros S, Odent S, Tucker E, Paris F, Belaud-Rotureau MA, Jaillard S. Lokchine A, et al. Among authors: jaillard s. Am J Med Genet A. 2024 Nov 4:e63924. doi: 10.1002/ajmg.a.63924. Online ahead of print. Am J Med Genet A. 2024. PMID: 39497500 Free article.
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Kline BL, Jaillard S, Bell KM, Bakhshalizadeh S, Robevska G, van den Bergen J, Dulon J, Ayers KL, Christodoulou J, Tchan MC, Touraine P, Sinclair AH, Tucker EJ. Kline BL, et al. Among authors: jaillard s. Genes (Basel). 2022 Nov 14;13(11):2113. doi: 10.3390/genes13112113. Genes (Basel). 2022. PMID: 36421788 Free PMC 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: jaillard s. Am J Med Genet A. 2024 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Review.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: jaillard s. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Mary L, Leclerc D, Labalme A, Bellaud P, Mazaud-Guittot S, Dréano S, Evrard B, Bigand A, Cauchoix A, Loget P, Lokchine A, Cluzeau L, Gilot D, Belaud-Rotureau MA, Jaillard S. Mary L, et al. Among authors: jaillard s. Genes (Basel). 2023 Jan 20;14(2):273. doi: 10.3390/genes14020273. Genes (Basel). 2023. PMID: 36833200 Free PMC article.
Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.
Cospain A, Dion L, Bidet M, Nyangoh Timoh K, Quelin C, Carton I, Lavillaureix A, Morcel K, Rollier P, Pasquier L, Nouyou B, Odent S, Guerrier D, Launay E, Belaud Rotureau MA, Fradin M, Jaillard S, Lavoué V. Cospain A, et al. Among authors: jaillard s. Acta Obstet Gynecol Scand. 2024 Oct 9. doi: 10.1111/aogs.14985. Online ahead of print. Acta Obstet Gynecol Scand. 2024. PMID: 39382201
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Tucker EJ, Sharp MF, Lokchine A, Bell KM, Palmer CS, Kline BL, Robevska G, van den Bergen J, Dulon J, Stojanovski D, Ayers KL, Touraine P, Crismani W, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: jaillard s. Clin Genet. 2024 Sep;106(3):321-335. doi: 10.1111/cge.14543. Epub 2024 May 23. Clin Genet. 2024. PMID: 38779778
133 results