Lista de obras - Bianca Tesi - Dominio Público Uruguay

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

artículo científico publicado en 2017

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.

artículo científico publicado en 2015

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

artículo científico publicado en 2018

ARID5B regulates metabolic programming in human adaptive NK cells.

artículo científico publicado en 2018

An Indian boy with griscelli syndrome type 2: case report and review of literature

artículo científico publicado en 2014

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

artículo científico publicado en 2014

Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function

artículo científico publicado en 2015

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

artículo científico publicado en 2017

Diversification and Functional Specialization of Human NK Cell Subsets.

artículo científico

Epigenetic Regulation of Adaptive NK Cell Diversification

artículo científico publicado en 2016

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

scientific article published on 01 February 2019

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

artículo científico publicado en 2017

HLH: genomics illuminates pathophysiological diversity

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation

artículo científico publicado en 2014

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia

scientific article published on 13 July 2018

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

artículo científico publicado en 2014

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

artículo científico publicado en 2016

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

artículo científico publicado en 2014

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

artículo científico publicado en 2015

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

artículo científico publicado en 2016

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

artículo científico publicado en 2015

Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies

artículo científico publicado en 2017

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

artículo científico publicado en 2015

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients

artículo científico publicado en 2017

Lista de obras de Bianca Tesi

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication.

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

ARID5B regulates metabolic programming in human adaptive NK cells.

An Indian boy with griscelli syndrome type 2: case report and review of literature

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

Diversification and Functional Specialization of Human NK Cell Subsets.

Epigenetic Regulation of Adaptive NK Cell Diversification

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

HLH: genomics illuminates pathophysiological diversity

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

Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients