about
Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle.Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.Deregulation of ion channel and transporter encoding genes in pediatric gliomasGenetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryPediatric sinonasal neuroendocrine carcinoma after treatment of retinoblastoma.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells.Molecular basis of familial hemophagocytic lymphohistiocytosis.Promoter methylation and expression analysis of MGMT in advanced pediatric brain tumors.Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage.Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study.Altered mRNA expression of PAX5 is a common event in acute lymphoblastic leukaemia.Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic geneticscorrespondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosisTumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy
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