Lista de obras - Antonia Pritchard - Dominio Público Uruguay

A 3'-UTR polymorphism in the oxidized LDL receptor 1 gene increases Abeta40 load as cerebral amyloid angiopathy in Alzheimer's disease

artículo científico publicado en 2005

A SNP in the ACT gene associated with astrocytosis and rapid cognitive decline in AD.

artículo científico publicado en 2007

A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease

artículo científico publicado en 2004

A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease.

artículo científico publicado en 2004

A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies

artículo científico publicado en 2020

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

artículo científico publicado en 2014

A screen for combination therapies in BRAF/NRAS wild type melanoma identifies nilotinib plus MEK inhibitor as a synergistic combination

Adaptive immunity to rhinoviruses: sex and age matter

artículo científico publicado en 2010

Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease

artículo científico publicado en 2006

Are rhinoviral proteinases responsible for mixed T(H)1 and T(H)2 immunity in chronic obstructive pulmonary disease?

artículo científico publicado en 2010

Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease

artículo científico publicado en 2005

Asthma is associated with multiple alterations in anti-viral innate signalling pathways

artículo científico publicado en 2014

BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib

artículo científico publicado en 2014

Bone marrow transplantation generates T cell-dependent control of myeloma in mice

artículo científico publicado en 2018

Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease

artículo científico publicado en 2004

Clinical factors associated with the humoral immune response to influenza vaccination in chronic obstructive pulmonary disease

artículo científico publicado en 2013

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

artículo científico publicado en 2018

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

scientific article published on 05 February 2019

Exome Sequencing to Predict Neoantigens in Melanoma.

artículo científico publicado en 2015

Exploration of peptides bound to MHC class I molecules in melanoma

artículo científico publicado en 2015

FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma

artículo científico publicado en 2020

Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype

artículo científico publicado en 2006

Genetics of familial melanoma: 20 years after CDKN2A.

artículo científico publicado en 2015

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

artículo científico publicado en 2018

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

scientific article published on 06 July 2019

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

artículo científico publicado en 2017

High efficiency ex vivo cloning of antigen-specific human effector T cells

artículo científico publicado en 2014

Identifying neoantigens for use in immunotherapy

artículo científico publicado en 2018

Innate IFNs and plasmacytoid dendritic cells constrain Th2 cytokine responses to rhinovirus: a regulatory mechanism with relevance to asthma

artículo científico publicado en 2012

Innate interferons inhibit allergen and microbial specific T(H)2 responses

artículo científico publicado en 2012

Intergenic disease-associated regions are abundant in novel transcripts.

artículo científico publicado en 2017

Interleukin-6 promoter polymorphism: risk and pathology of Alzheimer's disease

artículo científico publicado en 2004

Loss-of-function variants in POT1 predispose to uveal melanoma

scientific article published on 09 September 2020

Molecular pathways: mitogen-activated protein kinase pathway mutations and drug resistance

artículo científico publicado en 2013

Mutation load in melanoma is affected by MC1R genotype

artículo científico publicado en 2016

No association between neuregulin 1 and psychotic symptoms in Alzheimer's disease patients.

artículo científico publicado en 2010

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

artículo científico publicado en 2014

POLE mutations in families predisposed to cutaneous melanoma

artículo científico publicado en 2015

POT1 loss-of-function variants predispose to familial melanoma

artículo científico publicado en 2014

Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab

artículo científico publicado en 2019

Recurrent inactivating RASA2 mutations in melanoma

artículo científico publicado en 2015

Role of 5HT 2A and 5HT 2C polymorphisms in behavioural and psychological symptoms of Alzheimer's disease

artículo científico publicado en 2006

Role of serotonin transporter polymorphisms in the behavioural and psychological symptoms in probable Alzheimer disease patients

artículo científico publicado en 2007

Sensitive droplet digital PCR method for detection of TERT promoter mutations in cell free DNA from patients with metastatic melanoma

artículo científico publicado en 2017

Targeting Neoantigens for Personalised Immunotherapy.

artículo científico publicado en 2018

The plasmacytoid dendritic cell: at the cross-roads in asthma

artículo científico

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility

artículo científico publicado en 2018

Whole-genome landscapes of major melanoma subtypes.

artículo científico publicado en 2017

Lista de obras de Antonia Pritchard

A 3'-UTR polymorphism in the oxidized LDL receptor 1 gene increases Abeta40 load as cerebral amyloid angiopathy in Alzheimer's disease

A SNP in the ACT gene associated with astrocytosis and rapid cognitive decline in AD.

A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease

A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease.

A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

A screen for combination therapies in BRAF/NRAS wild type melanoma identifies nilotinib plus MEK inhibitor as a synergistic combination

Adaptive immunity to rhinoviruses: sex and age matter

Apolipoprotein E epsilon4 allele frequency and age at onset of Alzheimer's disease

Are rhinoviral proteinases responsible for mixed T(H)1 and T(H)2 immunity in chronic obstructive pulmonary disease?

Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease

Asthma is associated with multiple alterations in anti-viral innate signalling pathways

BRAF/NRAS wild-type melanoma, NF1 status and sensitivity to trametinib

Bone marrow transplantation generates T cell-dependent control of myeloma in mice

Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease

Clinical factors associated with the humoral immune response to influenza vaccination in chronic obstructive pulmonary disease

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Exome Sequencing to Predict Neoantigens in Melanoma.

Exploration of peptides bound to MHC class I molecules in melanoma

FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma

Genetic associations between cathepsin D exon 2 C-->T polymorphism and Alzheimer's disease, and pathological correlations with genotype

Genetics of familial melanoma: 20 years after CDKN2A.

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

High efficiency ex vivo cloning of antigen-specific human effector T cells

Identifying neoantigens for use in immunotherapy

Innate IFNs and plasmacytoid dendritic cells constrain Th2 cytokine responses to rhinovirus: a regulatory mechanism with relevance to asthma

Innate interferons inhibit allergen and microbial specific T(H)2 responses

Intergenic disease-associated regions are abundant in novel transcripts.

Interleukin-6 promoter polymorphism: risk and pathology of Alzheimer's disease

Loss-of-function variants in POT1 predispose to uveal melanoma

Molecular pathways: mitogen-activated protein kinase pathway mutations and drug resistance

Mutation load in melanoma is affected by MC1R genotype

No association between neuregulin 1 and psychotic symptoms in Alzheimer's disease patients.

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

POLE mutations in families predisposed to cutaneous melanoma

POT1 loss-of-function variants predispose to familial melanoma

Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab

Recurrent inactivating RASA2 mutations in melanoma

Role of 5HT 2A and 5HT 2C polymorphisms in behavioural and psychological symptoms of Alzheimer's disease

Role of serotonin transporter polymorphisms in the behavioural and psychological symptoms in probable Alzheimer disease patients

Sensitive droplet digital PCR method for detection of TERT promoter mutations in cell free DNA from patients with metastatic melanoma

Targeting Neoantigens for Personalised Immunotherapy.

The plasmacytoid dendritic cell: at the cross-roads in asthma

Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility

Whole-genome landscapes of major melanoma subtypes.