Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to GonosomalNOD2Mosaicism

Somatic NOD2 mosaicism in Blau syndrome

(2015) Jaime de Inocencio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

First report of vertical transmission of a somaticNLRP3mutation in cryopyrin-associated periodic syndromes: Table 1

(2013) Santiago Jiménez-Treviño et al.   ANNALS OF THE RHEUMATIC DISEASES

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

(2013) Kenji Nakagawa et al.   ANNALS OF THE RHEUMATIC DISEASES

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain

(2009) Carlos D. Rosé et al.   ARTHRITIS AND RHEUMATISM

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis

(2009) Ikuo Okafuji et al.   ARTHRITIS AND RHEUMATISM