Literature DB >> 23486414

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

Santiago Jiménez-Treviño, Eva González-Roca, Estibaliz Ruiz-Ortiz, Jordi Yagüe, Eduardo Ramos, Juan Ignacio Aróstegui.   

Abstract

Entities:  

Keywords:  Fever Syndromes; Inflammation; Qualitative research

Mesh：

Substances：

Year:  2013        PMID： 23486414     DOI： 10.1136/annrheumdis-2012-202913

Source DB:  PubMed          Journal:  Ann Rheum Dis        ISSN： 0003-4967            Impact factor:   19.103


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  6 in total

Review 1.  Update on the Genetics of Autoinflammatory Disorders.

Authors:  Isabelle Jéru
Journal:  Curr Allergy Asthma Rep       Date:  2019-07-18       Impact factor: 4.806

2.  Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Authors:  Qing Zhou; Ivona Aksentijevich; Geryl M Wood; Avram D Walts; Patrycja Hoffmann; Elaine F Remmers; Daniel L Kastner; Amanda K Ombrello
Journal:  Arthritis Rheumatol       Date:  2015-09       Impact factor: 10.995

Review 3.  Genetics, genomics, and their relevance to pathology and therapy.

Authors:  Michael J Ombrello; Keith A Sikora; Daniel L Kastner
Journal:  Best Pract Res Clin Rheumatol       Date:  2014-04       Impact factor: 4.098

Review 4.  Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.

Authors:  Martina Finetti; Alessia Omenetti; Silvia Federici; Roberta Caorsi; Marco Gattorno
Journal:  Orphanet J Rare Dis       Date:  2016-12-07       Impact factor: 4.123

Review 5.  The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.

Authors:  Fiona Moghaddas; Seth L Masters
Journal:  Clin Sci (Lond)       Date:  2018-09-05       Impact factor: 6.124

Review 6.  Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

Authors:  Tatjana Welzel; Jasmin B Kuemmerle-Deschner
Journal:  J Clin Med       Date:  2021-01-01       Impact factor: 4.241
  6 in total

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