Literature DB >> 24263150

Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.

Dmitriy Timerman1, Natasha Y Frank.   

Abstract

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Year:  2013        PMID： 24263150     DOI： 10.1097/RHU.0000000000000044

Source DB:  PubMed          Journal:  J Clin Rheumatol        ISSN： 1076-1608            Impact factor:   3.517


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  3 in total

1.  Evidence of digenic inheritance in autoinflammation-associated genes.

Authors:  Vassos Neocleous; Stefania Byrou; Meropi Toumba; Constantina Costi; Christos Shammas; Christina Kyriakou; Violetta Christophidou-Anastasiadou; George A Tanteles; Adamos Hadjipanayis; Leonidas A Phylactou
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

2.  Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Authors:  İlker Karacan; Ayşe Balamir; Serdal Uğurlu; Aslı Kireçtepe Aydın; Elif Everest; Seyit Zor; Merve Özkılınç Önen; Selçuk Daşdemir; Ozan Özkaya; Betül Sözeri; Abdurrahman Tufan; Deniz Gezgin Yıldırım; Selçuk Yüksel; Nuray Aktay Ayaz; Rukiye Eker Ömeroğlu; Kübra Öztürk; Mustafa Çakan; Oğuz Söylemezoğlu; Sezgin Şahin; Kenan Barut; Amra Adroviç; Emire Seyahi; Huri Özdoğan; Özgür Kasapçopur; Eda Tahir Turanlı
Journal:  Rheumatol Int       Date:  2019-02-19       Impact factor: 2.631

3.  Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

Authors:  Carlo De Pieri; Josef Vuch; Eleonora De Martino; Anna M Bianco; Luca Ronfani; Emmanouil Athanasakis; Barbara Bortot; Sergio Crovella; Andrea Taddio; Giovanni M Severini; Alberto Tommasini
Journal:  Pediatr Rheumatol Online J       Date:  2015-04-10       Impact factor: 3.054
  3 in total

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