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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1997 2
1998 3
1999 4
2000 2
2001 2
2002 3
2003 4
2004 2
2005 3
2006 1
2007 4
2008 3
2009 4
2010 3
2011 2
2012 2
2013 1
2014 5
2015 1
2016 3
2019 2
2020 2
2021 3
2022 3
2023 5
2024 5

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72 results

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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.
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.
Amyloidosis and auto-inflammatory syndromes.
Grateau G, Jéru I, Rouaghe S, Cazeneuve C, Ravet N, Duquesnoy P, Cuisset L, Dodé C, Delpech M, Amselem S. Grateau G, et al. Among authors: cuisset l. Curr Drug Targets Inflamm Allergy. 2005 Feb;4(1):57-65. doi: 10.2174/1568010053622786. Curr Drug Targets Inflamm Allergy. 2005. PMID: 15720237 Review.
[Hereditary intermittant fever].
Grateau G, Granel B, Hentgen V, Dodé C, Cuisset L, Delpech M. Grateau G, et al. Among authors: cuisset l. Presse Med. 2004 Oct 9;33(17):1195-206. doi: 10.1016/s0755-4982(04)98889-6. Presse Med. 2004. PMID: 15523291 Review. French.
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.
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.
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
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B, Martins AL, Charbit-Henrion F, Meinzer U, Belot A, Cuisset L, Faye A, Georgin-Lavialle S, Quartier P, Remy-Piccolo V, Ruemmele F, Uettwiller F, Viala J, Cerf Bensussan N, Berrebi D, Melki I. Bader-Meunier B, et al. Among authors: cuisset l. Inflamm Bowel Dis. 2021 Oct 20;27(11):1853-1857. doi: 10.1093/ibd/izab139. Inflamm Bowel Dis. 2021. PMID: 34525209
72 results