Literature DB >> 25327218

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls.

Carlo De Pieri1, Josef Vuch, Emmanouil Athanasakis, Giovanni Maria Severini, Sergio Crovella, Anna Monica Bianco, Alberto Tommasini.   

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Year:  2014        PMID： 25327218

Source DB:  PubMed          Journal:  Clin Exp Rheumatol        ISSN： 0392-856X            Impact factor:   4.473


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  8 in total

Review 1.  C3 glomerulopathy in NLRP12-related autoinflammatory disorder: case-based review.

Authors:  Özge Başaran; Nermin Uncu; Nilgün Çakar; Eda Tahir Turanlı; Saba Kiremitci; Fatma Aydın; Umut Selda Bayrakcı
Journal:  Rheumatol Int       Date:  2018-06-27       Impact factor: 2.631

Review 2.  NLRP12 autoinflammatory disease: a Chinese case series and literature review.

Authors:  Min Shen; Lin Tang; Xiaochun Shi; Xiaofeng Zeng; Qingping Yao
Journal:  Clin Rheumatol       Date:  2016-09-16       Impact factor: 2.980

3.  Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.

Authors:  Mikhail M Kostik; Evgeny N Suspitsin; Marina N Guseva; Anastasia S Levina; Anastasia Y Kazantseva; Anna P Sokolenko; Evgeny N Imyanitov
Journal:  Rheumatol Int       Date:  2018-03-02       Impact factor: 2.631

4.  Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Authors:  Noam Jacob; Sonya S Dasharathy; Viet Bui; Jihane N Benhammou; Wayne W Grody; Ram Raj Singh; Joseph R Pisegna
Journal:  Dig Dis Sci       Date:  2019-02-20       Impact factor: 3.199

5.  The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.

Authors:  Wei Wang; Yu Zhou; Lin-Qing Zhong; Zhuo Li; Shan Jian; Xiao-Yan Tang; Hong-Mei Song
Journal:  World J Pediatr       Date:  2019-12-09       Impact factor: 2.764

6.  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

Review 7.  Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Authors:  Davide Martorana; Francesco Bonatti; Paola Mozzoni; Augusto Vaglio; Antonio Percesepe
Journal:  Front Immunol       Date:  2017-04-03       Impact factor: 7.561

8.  Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Authors:  Xiaoru Xia; Caijun Dai; Xiaochun Zhu; Qiumei Liao; Xu Luo; Yangyang Fu; Liangxing Wang
Journal:  PLoS One       Date:  2016-06-17       Impact factor: 3.240
  8 in total

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