Lista de obras - Mirjam van der Burg - Dominio Público Uruguay

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

artículo científico publicado en 2008

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

artículo científico publicado en 2005

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity

artículo científico publicado en 2010

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

artículo científico publicado en 2013

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

artículo científico publicado en 2015

An antibody-deficiency syndrome due to mutations in the CD19 gene

artículo científico publicado en 2006

Anti-TNF treatment blocks the induction of T cell-dependent humoral responses ⬇️

artículo científico publicado el 11 de septiembre de 2012

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

artículo científico publicado en 2013

Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data

artículo científico publicado en 2017

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

artículo científico publicado en 2014

B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells

scientific article published on 01 December 2006

B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency

artículo científico publicado en 2011

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

artículo científico publicado en 2015

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

artículo científico publicado en 2010

Changes in Healthy Human IgG Fc-Glycosylation after Birth and during Early Childhood.

artículo científico publicado en 2016

Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.

scholarly article

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

artículo científico publicado en 2016

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

scientific article published on 29 May 2008

Combined immunodeficiencies: twenty years experience from a single center in Turkey

artículo científico publicado en 2016

Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum

artículo científico publicado en 2013

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

artículo científico publicado en 2015

DNA-PKcs deficiency in human: long predicted, finally found.

scientific article published on December 2009

Decreased IL7Rα and TdT expression underlie the skewed immunoglobulin repertoire of human B-cell precursors from fetal origin

artículo científico publicado en 2016

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

artículo científico publicado en 2016

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches

artículo científico publicado en 2007

Defective B-cell memory in patients with Down syndrome

artículo científico publicado en 2014

Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency

artículo científico publicado en 2020

Deficiencies in the CD19 complex

artículo científico publicado en 2018

Diagnosing mycobacterial lymphadenitis in children using fine needle aspiration biopsy: cytomorphology, ZN staining and autofluorescence -- making more of less.

artículo científico publicado en 2008

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

artículo científico publicado en 2014

Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

artículo científico publicado en 2011

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective

artículo científico publicado en 2019

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

artículo científico publicado en 2011

Educational paper: primary antibody deficiencies

artículo científico publicado en 2011

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

scientific article published on 19 March 2020

Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults

artículo científico publicado en 2016

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

artículo científico publicado en 2018

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

artículo científico publicado en 2015

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

artículo científico publicado en 2009

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

artículo científico publicado en 2010

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

artículo científico publicado en 2017

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

artículo científico publicado en 2007

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

artículo científico publicado en 2013

Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment.

artículo científico publicado en 2007

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

artículo científico publicado en 2010

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

artículo científico publicado en 2014

Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways

artículo científico publicado en 2011

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

artículo científico publicado en 2014

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

scientific article published on 01 November 2005

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

artículo científico publicado en 2015

ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS

artículo científico publicado en 2014

Immunoglobulin gene rearrangements and the pathogenesis of multiple myeloma.

artículo científico publicado en 2007

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

artículo científico publicado en 2016

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

artículo científico publicado en 2008

Iris atrophy in a patient with X-linked agammaglobulinemia

artículo científico publicado en 2007

Late-onset adenosine deaminase deficiency presenting with Heck's disease

artículo científico publicado en 2009

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

artículo científico publicado en 2010

Molecular diagnostics of primary immunodeficiencies: benefits and future challenges

artículo científico publicado en 2009

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

artículo científico publicado en 2011

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

artículo científico publicado en 2015

New frontiers of primary antibody deficiencies.

artículo científico publicado en 2011

New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy

artículo científico publicado en 2007

No significant prognostic value of normal precursor B-cell regeneration in paediatric acute myeloid leukaemia after induction treatment

artículo científico publicado en 2013

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

artículo científico

Optimization and testing of dried antibody tube: The EuroFlow LST and PIDOT tubes as examples

artículo científico publicado en 2017

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

artículo científico publicado en 2015

PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders.

artículo científico publicado en 2011

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

artículo científico publicado en 2015

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

artículo científico publicado en 2020

Persistent subclinical immune defects in HIV-1-infected children treated with antiretroviral therapy

artículo científico publicado en 2015

Precursor B-cell development in bone marrow of Good syndrome patients

artículo científico publicado en 2019

Primary Immune Deficiency Treatment Consortium (PIDTC) report

artículo científico publicado en 2013

Protein functionality as a potential bottleneck for somatic revertant variants

artículo científico publicado en 2020

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

artículo científico publicado en 2002

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency

scientific article published on 15 April 2020

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

artículo científico publicado en 2017

Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion

artículo científico publicado en 2007

Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle.

artículo científico publicado en 2006

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes

artículo científico publicado en 2014

Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency

artículo científico

T and B Cell Markers in Dried Blood Spots of Neonates with Congenital Cytomegalovirus Infection: B Cell Numbers at Birth Are Associated with Long-Term Outcomes.

artículo científico publicado en 2016

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

artículo científico publicado en 2015

The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

artículo científico publicado en 2015

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

artículo científico publicado en 2020

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

artículo científico publicado en 2011

Unraveling of the polymorphic C lambda 2-C lambda 3 amplification and the Ke+Oz- polymorphism in the human Ig lambda locus

artículo científico publicado en 2002

Unraveling the repertoire in wiskott-Aldrich syndrome

artículo científico publicado en 2014

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

artículo científico publicado en 2013

Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells

artículo científico publicado en 2013

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

artículo científico publicado en 2016

Lista de obras de Mirjam van der Burg

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

An antibody-deficiency syndrome due to mutations in the CD19 gene

Anti-TNF treatment blocks the induction of T cell-dependent humoral responses ⬇️

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells

B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

Changes in Healthy Human IgG Fc-Glycosylation after Birth and during Early Childhood.

Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells.

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

Combined immunodeficiencies: twenty years experience from a single center in Turkey

Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

DNA-PKcs deficiency in human: long predicted, finally found.

Decreased IL7Rα and TdT expression underlie the skewed immunoglobulin repertoire of human B-cell precursors from fetal origin

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches

Defective B-cell memory in patients with Down syndrome

Defective formation of IgA memory B cells, Th1 and Th17 cells in symptomatic patients with selective IgA deficiency

Deficiencies in the CD19 complex

Diagnosing mycobacterial lymphadenitis in children using fine needle aspiration biopsy: cytomorphology, ZN staining and autofluorescence -- making more of less.

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency

Educational paper: primary antibody deficiencies

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections.

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Homeostatic and maturation-associated proliferation in the peripheral B-cell compartment.

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS

Immunoglobulin gene rearrangements and the pathogenesis of multiple myeloma.

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

Iris atrophy in a patient with X-linked agammaglobulinemia

Late-onset adenosine deaminase deficiency presenting with Heck's disease

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.

Molecular diagnostics of primary immunodeficiencies: benefits and future challenges

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

New frontiers of primary antibody deficiencies.

New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy

No significant prognostic value of normal precursor B-cell regeneration in paediatric acute myeloid leukaemia after induction treatment

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

Optimization and testing of dried antibody tube: The EuroFlow LST and PIDOT tubes as examples

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders.

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

Persistent subclinical immune defects in HIV-1-infected children treated with antiretroviral therapy

Precursor B-cell development in bone marrow of Good syndrome patients

Primary Immune Deficiency Treatment Consortium (PIDTC) report

Protein functionality as a potential bottleneck for somatic revertant variants

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion

Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle.

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes