Literature DB >> 12586237

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome.

Anna Simon1, Edwin C Mariman, Jos W M van der Meer, Joost P H Drenth.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12586237     DOI： 10.1016/s0002-9343(02)01429-8

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


× No keyword cloud information.
  8 in total

1.  Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.

Authors:  A Lawrence; F Hol; A Aggarwal; J P H Drenth
Journal:  Ann Rheum Dis       Date:  2006-12       Impact factor: 19.103

Review 2.  Recurrent febrile syndromes: what a rheumatologist needs to know.

Authors:  Hal M Hoffman; Anna Simon
Journal:  Nat Rev Rheumatol       Date:  2009-05       Impact factor: 20.543

Review 3.  Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Authors:  Ivona Aksentijevich; Daniel L Kastner
Journal:  Nat Rev Rheumatol       Date:  2011-07-05       Impact factor: 20.543

4.  Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.

Authors:  E Lainka; U Neudorf; P Lohse; C Timmann; M Bielak; S Stojanov; K Huss; R von Kries; T Niehues
Journal:  Rheumatol Int       Date:  2011-10-30       Impact factor: 2.631

Review 5.  Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

Authors:  Isabelle Touitou
Journal:  Genes Dis       Date:  2021-06-09

Review 6.  Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Authors:  Carla Gaggiano; Donato Rigante; Antonio Vitale; Orso Maria Lucherini; Alessandra Fabbiani; Giovanna Capozio; Chiara Marzo; Viviana Gelardi; Salvatore Grosso; Bruno Frediani; Alessandra Renieri; Luca Cantarini
Journal:  Mediators Inflamm       Date:  2019-12-31       Impact factor: 4.711

7.  30 years hids-Travels between bedside and bench.

Authors:  Jos W M van der Meer
Journal:  Temperature (Austin)       Date:  2015-02-03

Review 8.  Natural history of mevalonate kinase deficiency: a literature review.

Authors:  Shumin Zhang
Journal:  Pediatr Rheumatol Online J       Date:  2016-05-04       Impact factor: 3.054
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.