Concepedia

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Dorota Rowczenio, Yael Shinar, Isabella Ceccherini, Katie Sheils, Mariëlle van Gijn, Simon Patton, Isabelle Touitou

European Journal of Human Genetics · 2019 · 15 citations · 13 references

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References

13

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide et al. · Nature Genetics · 2001 · 1.7K citations

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A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

The International FMF Consortium · Cell · 1997 · 1.5K citations · Full text

, , +10

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

, , +17

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Joost P.H. Drenth, Laurence Cuisset, Gilles Grateau et al. · Nature Genetics · 1999 · 557 citations

, , +8