List of works - Valentina Cetica

Altered mRNA expression of PAX5 is a common event in acute lymphoblastic leukaemia.

scientific article

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

scientific article published on 15 February 2017

Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle

scientific article

Deregulation of ion channel and transporter encoding genes in pediatric gliomas

scientific article

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis

scientific article published on 27 June 2014

Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.

scientific article

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity

scientific article published on 12 October 2011

Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning

scientific article published on 16 April 2014

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

scientific article

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

scientific article

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

scientific article published on 13 January 2015

Molecular basis of familial hemophagocytic lymphohistiocytosis

scientific article published on April 2010

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

scientific article published in August 2014

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

scientific article published on 11 October 2014

Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage

scientific article published on 17 March 2009

Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study.

scientific article published in February 2011

Pediatric sinonasal neuroendocrine carcinoma after treatment of retinoblastoma.

scientific article published on 20 January 2009

Promoter methylation and expression analysis of MGMT in advanced pediatric brain tumors

scientific article published in October 2009

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

scientific article

Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics

article

Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy

scientific article published on 16 February 2011

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

scientific article

XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells.

scientific article published on 27 February 2014

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

scientific article published in September 2010

List of works by Valentina Cetica

Altered mRNA expression of PAX5 is a common event in acute lymphoblastic leukaemia.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle

Deregulation of ion channel and transporter encoding genes in pediatric gliomas

Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity

Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

Molecular basis of familial hemophagocytic lymphohistiocytosis

Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma.

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage

Pediatric rhabdoid meningioma: a morphological, immunohistochemical, ultrastructural and molecular case study.

Pediatric sinonasal neuroendocrine carcinoma after treatment of retinoblastoma.

Promoter methylation and expression analysis of MGMT in advanced pediatric brain tumors

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics

Tumour suppressor gene TP53 mutations in atypical vascular lesions of breast skin following radiotherapy

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells.

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis