Associated Papers
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.
Xiang L et al.
Journal of Human Genetics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
Sharma S et al.
Journal of Clinical Immunology, 2025
Telomere Length and Genetic Variations in Acquired Pediatric Aplastic Anemia: A Flow-FISH Study in Korean Patients.
Hong Y et al.
Diagnostics (basel, Switzerland), 2025
Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutations.
Lyu X et al.
Frontiers in Genetics, 2025
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.
Zhang X et al.
Human Genomics, 2024
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Xin X et al.
The American Journal of the Medical Sciences, 2023
[Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].
Yu MZ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2023
Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.
You Y et al.
Medicine, 2023
[Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis].
Zhang Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in Immunology, 2023
Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY et al.
Frontiers in Immunology, 2023
Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing.
Lei T et al.
Orphanet Journal of Rare Diseases, 2022
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis.
Bi X et al.
Journal of Hematology & Oncology, 2022
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Park JE et al.
Frontiers in Pediatrics, 2022
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
Bi SH et al.
World Journal of Clinical Cases, 2021
Adult onset type 2 familial hemophagocytic lymphohistiocytosis with PRF1 c.65delC/c.163C>T compound heterozygous mutations: A case report.
Liu XY et al.
World Journal of Clinical Cases, 2021
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
Ji Q et al.
Clinical Laboratory, 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Kwon WK et al.
Allergy, Asthma & Immunology Research, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Viñas-Giménez L et al.
Frontiers in Immunology, 2020
Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients.
Feng WX et al.
Frontiers in Genetics, 2020
Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.
Zhang L et al.
Annals of Hematology, 2019
To Transplant or Not to Transplant? Late-Onset Primary HLH in a Patient: A Case Report and Review of Literature.
Ashok V et al.
Journal of Pediatric Hematology/oncology, 2019
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X et al.
Clinical Genetics, 2018
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
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.
Chen X et al.
Oncology Letters, 2017
Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.
Kim MS et al.
Annals of Laboratory Medicine, 2017
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2016
Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
Chiang GP et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2014
A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis.
Kim JY et al.
Korean Journal of Pediatrics, 2014
Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood.
Wang Y et al.
Plos One, 2014