De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis

Journal of Human Genetics

Volumn 56, Issue 5, 2011, Pages 343-347

  Tadaki, Hiromi ^a   Saitsu, Hirotomo ^a   Nishimura Tadaki, Akira ^a   Imagawa, Tomoyuki ^a   Kikuchi, Masako ^a   Hara, Ryoki ^a   Kaneko, Utako ^a   Kishi, Takayuki ^a   Miyamae, Takako ^a   Miyake, Noriko ^a   Doi, Hiroshi ^a   Tsurusaki, Yoshinori ^a   Sakai, Haruya ^a   Yokota, Shumpei ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

arthritis; de novo; duplication; systemic onset JIA

Indexed keywords

ANTIBIOTIC AGENT; ANTIINFLAMMATORY AGENT; AZATHIOPRINE; CYCLOSPORIN A; INTERLEUKIN 11; METHOTREXATE; METHYLPREDNISOLONE; MIZORIBINE; NLRP11 PROTEIN; NLRP2 PROTEIN; NLRP9 PROTEIN; PROTEIN; TOCILIZUMAB; UNCLASSIFIED DRUG;

ADOLESCENT; ANTIBIOTIC THERAPY; ARTICLE; CHROMOSOME 19Q; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MALE; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ARTHRITIS, JUVENILE RHEUMATOID; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MULTIGENE FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79957604464     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.16     Document Type: Article

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