Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Wegehaupt O et al.
Blood, 2025
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 2021
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
Blincoe A et al.
Journal of Clinical 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
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S et al.
Clinical Case Reports, 2017
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O et al.
Protein Science : a Publication of the Protein Society, 2013
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
Horne A et al.
British Journal of Haematology, 2008
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S et al.
Blood, 2006
Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
Ishii E et al.
Critical Reviews in Oncology/hematology, 2005
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
Göransdotter Ericson K et al.
American Journal of Human Genetics, 2001
[Familial hemophagocytic lymphohistiocytosis: diagnosis, treatment and pathophysiological mechanisms].
Henter JI et al.
Lakartidningen, 2000