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Page 1
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: cuisset l. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. Among authors: cuisset l. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T. Quilichini J, et al. Among authors: cuisset l. Am J Med Genet A. 2024 Apr;194(4):e63479. doi: 10.1002/ajmg.a.63479. Epub 2023 Nov 21. Am J Med Genet A. 2024. PMID: 37987117
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M. Thomas L, et al. Among authors: cuisset l. J Med Genet. 2024 May 21;61(6):595-604. doi: 10.1136/jmg-2023-109700. J Med Genet. 2024. PMID: 38408845
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
Fayand A, Cescato M, Le Corre L, Terré A, Wacheux M, Zhu YYJ, Melet A, Moreau TRJ, Bodaghi B, Bonnet F, Bronnimann D, Cuisset L, Faria R, Grateau G, Pillet P, Mulders-Manders CM, Neven B, Quartier P, Richer O, Savey L, Truchetet ME, Py BF, Boursier G, Herbeuval JP, Georgin-Lavialle S, Rodero MP. Fayand A, et al. Among authors: cuisset l. J Allergy Clin Immunol. 2023 Nov;152(5):1303-1311.e1. doi: 10.1016/j.jaci.2023.07.006. Epub 2023 Jul 26. J Allergy Clin Immunol. 2023. PMID: 37506976
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF. Cosson C, et al. Among authors: cuisset l. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
Diagnosis traps for patients with acquired NLRP3 mutation.
Cescato M, Cuisset L, Le Corre L, Rodero MP, Georgin-Lavialle S; F-CAPS study group. Cescato M, et al. Among authors: cuisset l. Eur J Intern Med. 2024 Mar 20:S0953-6205(24)00035-9. doi: 10.1016/j.ejim.2024.01.028. Online ahead of print. Eur J Intern Med. 2024. PMID: 38514289 Free article. No abstract available.
French protocol for the diagnosis and management of familial Mediterranean fever.
Georgin-Lavialle S, Savey L, Cuisset L, Boursier G, Boffa JJ, Delplanque M, Bourguiba R, Monfort JB, Touitou I, Grateau G; Collaborators; Kone-Paut I, Hentgen V. Georgin-Lavialle S, et al. Among authors: cuisset l. Rev Med Interne. 2023 Nov;44(11):602-616. doi: 10.1016/j.revmed.2023.10.441. Epub 2023 Oct 29. Rev Med Interne. 2023. PMID: 37903671 Review.
73 results