Literature DB >> 10775206

Periodic fevers enter the era of molecular diagnosis.

J P Drenth, J W van Der Meer.   

Abstract

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Year:  2000        PMID： 10775206      PMCID： PMC1127242          DOI： 10.1136/bmj.320.7242.1091

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  14 in total

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

Authors:  M F McDermott; I Aksentijevich; J Galon; E M McDermott; B W Ogunkolade; M Centola; E Mansfield; M Gadina; L Karenko; T Pettersson; J McCarthy; D M Frucht; M Aringer; Y Torosyan; A M Teppo; M Wilson; H M Karaarslan; Y Wan; I Todd; G Wood; R Schlimgen; T R Kumarajeewa; S M Cooper; J P Vella; C I Amos; J Mulley; K A Quane; M G Molloy; A Ranki; R J Powell; G A Hitman; J J O'Shea; D L Kastner
Journal:  Cell       Date:  1999-04-02       Impact factor: 41.582

2.  Linkage of familial Hibernian fever to chromosome 12p13.

Authors:  M F McDermott; B W Ogunkolade; E M McDermott; L C Jones; Y Wan; K A Quane; J McCarthy; M Phelan; M G Molloy; R J Powell; C I Amos; G A Hitman
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 3.  Familial Mediterranean fever.

Authors:  E Ben-Chetrit; M Levy
Journal:  Lancet       Date:  1998-02-28       Impact factor: 79.321

4.  Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family.

Authors:  E M McDermott; D M Smillie; R J Powell
Journal:  Mayo Clin Proc       Date:  1997-09       Impact factor: 7.616

5.  MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever.

Authors:  A Livneh; P Langevitz; Y Shinar; N Zaks; D L Kastner; M Pras; E Pras
Journal:  Amyloid       Date:  1999-03       Impact factor: 7.141

6.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

7.  A candidate gene for familial Mediterranean fever.

Authors: 
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

8.  Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Authors: 
Journal:  Cell       Date:  1997-08-22       Impact factor: 41.582

9.  Gene localization for an autosomal dominant familial periodic fever to 12p13.

Authors:  J Mulley; K Saar; G Hewitt; F Rüschendorf; H Phillips; A Colley; D Sillence; A Reis; M Wilson
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

Review 10.  Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

Authors:  J P Drenth; C J Haagsma; J W van der Meer
Journal:  Medicine (Baltimore)       Date:  1994-05       Impact factor: 1.889
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  3 in total

1.  The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

Authors:  I Aksentijevich; J Galon; M Soares; E Mansfield; K Hull; H H Oh; R Goldbach-Mansky; J Dean; B Athreya; A J Reginato; M Henrickson; B Pons-Estel; J J O'Shea; D L Kastner
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

2.  Specific glycosylation of alpha(1)-acid glycoprotein characterises patients with familial Mediterranean fever and obligatory carriers of MEFV.

Authors:  D C Poland; J P Drenth; E Rabinovitz; A Livneh; J Bijzet; B van het Hof; W van Dijk
Journal:  Ann Rheum Dis       Date:  2001-08       Impact factor: 19.103

Review 3.  TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.

Authors:  Nima Rezaei
Journal:  Clin Rheumatol       Date:  2006-01-26       Impact factor: 2.980
  3 in total

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