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The infevers autoinflammatory mutation online registry: update with new genes and functions.

author

Carol Wise

Hatem El-shanti

Ivona Aksentijevich

published in: Human Mutation

date of publication: 2008-06-01

Cites articles 19

Date

Title

Authors

2007-03-01

A splice site mutation confirms the role of LPIN2 in Majeed syndrome

Hatem El-shanti
2007-04-01

Recommendations of the 2006 Human Variome Project meeting.

Kevin G. Becker, Walter Bodmer, Peter H. Byers, Patrick Concannon, Paul Flicek, Judith Goslin Hall, Pui-Yan Kwok, Rajkumar Ramesar, Ghazi O. Tadmouri, Arleen D. Auerbach, Charles R. Scriver, Lincoln Stein, Annika Lindblom, Mireille Claustres, Steven G. E. Marsh, David Rimoin, Anthony J Brookes, Stephen T Sherry, Donna R. Maglott
2007-03-01

NALP1 in vitiligo-associated multiple autoimmune disease

Richard A Spritz, Pamela R Fain, Greggory S LaBerge
2007-07-01

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations

Rashmi Bagga
2006-02-05

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

Guy A. Rouleau
2005-09-01

UMD (Universal Mutation Database): 2005 update.

Thierry Soussi, Christophe Beroud, Catherine Boileau, Mireille Claustres, Gwenaëlle Collod-Béroud
2005-07-01

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Arnold Munnich
2005-08-24

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Thomas J Waldschmidt, Annette J Schlueter, Hatem El-shanti
2005-01-01

Hereditary periodic fever syndromes

Daniel L. Kastner
2004-09-01

A common pathway in periodic fever syndromes

Michael McDermott
2004-01-01

Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
2003-01-01

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
2003-11-11

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

Daniel L. Kastner
2002-09-01

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

Fabio Martinon, Daniel C Swan, Michael McDermott, Margot Thome, Helen J Lachmann, Jürg Tschopp
2001-11

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
2001-05-01

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

Jean-Pierre Hugot, Mathias Chamaillard, Sven Almer, Antoine Cortot, Pierre Laurent-Puig, Jean-Frederic Colombel
2001-09-01

CARD15 mutations in Blau syndrome
2000

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
1999-04-01

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

Michael McDermott, Jérôme Galon

Article - wd:Q40421899

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