Associated Papers
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.
Bi X et al.
Journal of Hematology & Oncology, 2022
35902954 (PubMed )
Supplement: 13045_2022_1318_MOESM2_ESM.xlsx › Table_S6
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1
A new SH2D1A mutation in a female adult XLP disease with hemophagocytic lymphohistiocytosis and NK-cell leukemia.
Liang JH et al.
Annals of Hematology, 2019
Systemic Epstein-Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants.
Ishimura M et al.
Frontiers in Pediatrics, 2019
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
Jin Z et al.
Orphanet Journal of Rare Diseases, 2018
Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
Liu J et al.
Molecular Medicine Reports, 2015
The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E et al.
European Journal of Pediatrics, 2014
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Wang Y et al.
Plos One, 2014
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.
Yang X et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry.
Zhao M et al.
Cytometry. Part B, Clinical Cytometry, 2011
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