相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actinregulatory gene WDR1
Ariane S. I. Standing et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2017)
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
Marta Rusmini et al.
ANNALS OF THE RHEUMATIC DISEASES (2016)
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS)
Pu Li et al.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2016)
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Qing Zhou et al.
NATURE GENETICS (2016)
Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
Monique Stoffels et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 17 (2016)
Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism
Anna Mensa-Vilaro et al.
Arthritis & Rheumatology (2016)
First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism
Anna Mensa-Vilaro et al.
ARTHRITIS & RHEUMATOLOGY (2016)
Deficiency of Adenosine Deaminase Type 2 A Description of Phenotype and Genotype in Fifteen Cases
Sira Nanthapisal et al.
ARTHRITIS & RHEUMATOLOGY (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals
Imran G. House et al.
IMMUNOLOGY AND CELL BIOLOGY (2015)
Somatic NOD2 mosaicism in Blau syndrome
[Anonymous]
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2015)
Cowden's syndrome with immunodeficiency
Michael J. Browning et al.
JOURNAL OF MEDICAL GENETICS (2015)
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
Linnea M. Baudhuin et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2015)
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Kenji Nakagawa et al.
ANNALS OF THE RHEUMATIC DISEASES (2015)
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
H. J. Lachmann et al.
ANNALS OF THE RHEUMATIC DISEASES (2014)
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
Kejian Zhang et al.
BLOOD (2014)
Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity
Marie Meeths et al.
EXPERIMENTAL CELL RESEARCH (2014)
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease-evaluation and prospective analysis
Jochen Kammermeier et al.
JOURNAL OF MEDICAL GENETICS (2014)
A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype
Adriana De Jesus et al.
Pediatric Rheumatology (2014)
Monogenic autoinflammatory diseases
Ricardo A. G. Russo et al.
RHEUMATOLOGY (2014)
RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease
Alana C. Cecchi et al.
STROKE (2014)
Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
Ebun Omoyinmi et al.
ARTHRITIS & RHEUMATOLOGY (2014)
Gain-of-function Lyn induces anemia: appropriate Lyn activity is essential for normal erythropoiesis and Epo receptor signaling
Neli S. Slavova-Azmanova et al.
BLOOD (2013)
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
Ephrem L. H. Chin et al.
BMC GENETICS (2013)
ACMG clinical laboratory standards for next-generation sequencing
Heidi L. Rehm et al.
GENETICS IN MEDICINE (2013)
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
Dorota M. Rowczenio et al.
ARTHRITIS RESEARCH & THERAPY (2013)
Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing
Kazushi Izawa et al.
DNA RESEARCH (2012)
Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome
Mario Heindl et al.
GASTROENTEROLOGY (2012)
High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome Results of an International Multicenter Collaborative Study
Naoko Tanaka et al.
ARTHRITIS AND RHEUMATISM (2011)
The impact of next-generation sequencing on genomics
Jun Zhang et al.
JOURNAL OF GENETICS AND GENOMICS (2011)
Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development
Wanyang Liu et al.
PLOS ONE (2011)
A Somatic NLRP3 Mutation as a Cause of a Sporadic Case of Chronic Infantile Neurologic, Cutaneous, Articular Syndrome/Neonatal-Onset Multisystem Inflammatory Disease Novel Evidence of the Role of Low-Level Mosaicism as the Pathophysiologic Mechanism Underlying Mendelian Inherited Diseases
Juan I. Arostegui et al.
ARTHRITIS AND RHEUMATISM (2010)
Autoinflammatory Disease Reloaded: A Clinical Perspective
Daniel L. Kastner et al.
CELL (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
A Framework for the Prioritization of Investment in the Provision of Genetic Tests
Mark Kroese et al.
PUBLIC HEALTH GENOMICS (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network
Mark Kroese et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
N. Ravet et al.
ANNALS OF THE RHEUMATIC DISEASES (2006)
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome
DK Kim et al.
DISEASES OF THE COLON & RECTUM (2005)
Autoimmunity in Wiskott-Aldrich syndrome: Risk factors, clinical features, and outcome in a single-center cohort of 55 patients
S Dupuis-Girod et al.
PEDIATRICS (2003)
Sustained activation of Lyn tyrosine kinase in vivo leads to autoimmunity
ML Hibbs et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2002)