Associated Papers
Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.
Li G et al.
Pediatric Research, 2025
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Kadi Ozan Z et al.
Journal of Pediatric Hematology/oncology, 2024
HLH Syndrome in a Community Hospital: The Challenge of an Early Diagnosis.
Wagner Y et al.
Pediatric Health, Medicine and Therapeutics, 2024
A rare onset in tumour necrosis factor receptor-associated periodic syndrome: recurrent macrophage activation syndrome triggered by COVID-19 infection.
Çağlayan Ş et al.
Rheumatology (oxford, England), 2022
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.
Huang WQ et al.
Frontiers in Genetics, 2019
Fatal unexpected death due to familial hemophagocytic lymphohistiocytosis type 3.
Mu J et al.
Forensic Science, Medicine, and Pathology, 2018
Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
Hu X et al.
Bmc Medical Genetics, 2018
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H et al.
Blood, 2018
Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.
Zhou S et al.
Bmc Medical Genetics, 2017
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.
Verhaaren BF et al.
Circulation. Cardiovascular Genetics, 2015
Clinical characteristics and genetic analysis of childhood acute lymphoblastic leukemia with hemophagocytic lymphohistiocytosis: a Japanese retrospective study by the Kyushu-Yamaguchi Children's Cancer Study Group.
Moritake H et al.
International Journal of Hematology, 2014
Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.
Chen Y et al.
Yonsei Medical Journal, 2013
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
Seo JY et al.
Annals of Hematology, 2013
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.
Zhang K et al.
Arthritis and Rheumatism, 2008
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