Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. - Test2 - elhamkhani - TriplyDB

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

http://www.wikidata.org/entity/Q40138574

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center.Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data

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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

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Next-generation sequencing and ...... ic auto-inflammatory diseases.

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ANNRHEUMDIS-2015-207701

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Annals of the Rheumatic Diseases

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Next-generation sequencing and ...... mic auto-inflammatory diseases

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Alberto Martini

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Alberto Tommasini

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Alma Nunzia Olivieri

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AngeloValerio Marzano

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Eleonora Gallo

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Francesco Caroli

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Marco Gattorno

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Marta Rusmini

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Maurizia Baldi

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Roberto Ravazzolo

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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders.

A candidate gene for familial Mediterranean fever.

Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population.

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.

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1550-1557

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10.1136/ANNRHEUMDIS-2015-207701

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8

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Domenico Coviello

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Antonella Insalaco

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282044273

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