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Items: 4

1.

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.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418
2.

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.

Joint Bone Spine. 2017 Mar;84(2):125-128. doi: 10.1016/j.jbspin.2016.11.008. Epub 2016 Dec 2. Review. No abstract available.

PMID:
27919670
3.

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.

J Dermatol Sci. 2014 Sep;75(3):208-9. doi: 10.1016/j.jdermsci.2014.06.002. Epub 2014 Jun 19. No abstract available.

PMID:
25022922
4.

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.

Hum Mutat. 2008 Jun;29(6):803-8. doi: 10.1002/humu.20720.

PMID:
18409191

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