Associated Papers
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
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC36
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4
Broad Impairment of Natural Killer Cells from Operationally Tolerant Kidney Transplanted Patients.
Dugast E et al.
Frontiers in Immunology, 2017
[Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis].
Zhou XH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016
Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations.
Wang Y et al.
Annals of Hematology, 2012
[A case report of adult onset of primary hemophagocytic syndrome with literature review].
Wang YN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4).
Macartney CA et al.
Pediatric Blood & Cancer, 2011
[Perforin gene mutations in patients with acquired severe aplastic anemia].
Zhang J et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011
Variations of the perforin gene in patients with multiple sclerosis.
Cappellano G et al.
Genes and Immunity, 2008
Variations of the perforin gene in patients with type 1 diabetes.
Orilieri E et al.
Diabetes, 2008
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi R et al.
Blood, 2006
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
Lee SM et al.
The Journal of Pediatrics, 2006
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy.
Buttini S et al.
Genes and Immunity, 0
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