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Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
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.
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Slim R, Fisher R, Milhavet F, Hemida R, Rojas S, Rittore C, Bagga R, Aguinaga M, Touitou I.
Slim R, et al. Among authors: milhavet f.
Hum Mutat. 2022 Dec;43(12):1732-1744. doi: 10.1002/humu.24439. Epub 2022 Jul 23.
Hum Mutat. 2022.
PMID: 35842788
Review.
Item in Clipboard
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G, Rittore C, Milhavet F, Cuisset L, Touitou I.
Boursier G, et al. Among authors: milhavet f.
J Clin Med. 2021 Apr 7;10(8):1552. doi: 10.3390/jcm10081552.
J Clin Med. 2021.
PMID: 33917151
Free PMC article.
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New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.
Van Gijn ME, et al. Among authors: milhavet f.
J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.
J Med Genet. 2018.
PMID: 29599418
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How to favour efficient networking of teams working in the field of rare diseases? Experience of the CeRéMAI reference centre for auto-inflammatory diseases.
Touitou I, Milhavet F, Hentgen V, Koné-Paut I.
Touitou I, et al. Among authors: milhavet f.
Joint Bone Spine. 2017 Mar;84(2):125-128. doi: 10.1016/j.jbspin.2016.11.008. Epub 2016 Dec 2.
Joint Bone Spine. 2017.
PMID: 27919670
Review.
No abstract available.
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Response to Li and Zhang: infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis.
Touitou I, Milhavet F, Cuisset L.
Touitou I, et al. Among authors: milhavet f.
J Dermatol Sci. 2014 Sep;75(3):208-9. doi: 10.1016/j.jdermsci.2014.06.002. Epub 2014 Jun 19.
J Dermatol Sci. 2014.
PMID: 25022922
No abstract available.
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The infevers autoinflammatory mutation online registry: update with new genes and functions.
Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I.
Milhavet F, et al.
Hum Mutat. 2008 Jun;29(6):803-8. doi: 10.1002/humu.20720.
Hum Mutat. 2008.
PMID: 18409191
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