Lista de obras - Julie E. Niemela - Dominio Público Uruguay

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

artículo científico publicado en 2010

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

artículo científico publicado en 2018

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

article published in 2011

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

artículo científico publicado en 2011

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis

artículo científico publicado en 2013

CYBB mutation analysis in X-linked chronic granulomatous disease

artículo científico publicado en 2002

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

artículo científico publicado en 2015

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

artículo científico publicado en 2003

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

artículo científico publicado en 2013

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

artículo científico publicado en 2015

Effects of interleukin 2 therapy on lymphocyte magnesium levels

artículo científico publicado en 2002

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

artículo científico publicado en 2011

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

artículo científico publicado en 2014

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

artículo científico

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

article by Jordan Orange et al published September 2004 in The Journal of Allergy and Clinical Immunology

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

artículo científico publicado en 2010

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

artículo científico publicado en 2008

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

artículo científico publicado en 2014

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

artículo científico publicado en 2012

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

artículo científico publicado en 2015

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

artículo científico publicado en 2013

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

artículo científico publicado en 2019

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder

artículo científico publicado en 2005

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

artículo científico publicado en 2009

Mutation analysis in primary immunodeficiency diseases: case studies

artículo científico publicado en 2009

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

artículo científico publicado en 2014

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2007

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

artículo científico publicado en 2014

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

artículo científico publicado en 2005

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

artículo científico publicado en 2010

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

artículo científico publicado en 2010

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

artículo científico publicado en 2014

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

artículo científico publicado en 2010

Lista de obras de Julie E. Niemela

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis

CYBB mutation analysis in X-linked chronic granulomatous disease

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Effects of interleukin 2 therapy on lymphocyte magnesium levels

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Mutation analysis in primary immunodeficiency diseases: case studies

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome