Lista de obras - Edward J Hollox - Dominio Público Uruguay

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

artículo científico publicado en 2004

A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.

artículo científico publicado en 2011

A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.

artículo científico publicado en 2015

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia ⬇️

artículo científico publicado el 5 de mayo de 2011

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

artículo científico publicado en 2006

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

scholarly article

Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).

artículo científico publicado en 2017

Analysis of copy number variation at DMBT1 and age-related macular degeneration

artículo científico publicado en 2016

Assessment of complement C4 gene copy number using the paralog ratio test

artículo científico publicado en 2010

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

artículo científico publicado en 2013

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin

artículo científico publicado en 2009

Beta-defensins and Crohn's disease: confusion from counting copies.

artículo científico publicado en 2010

CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans

artículo científico publicado en 2013

Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

artículo científico publicado en 2021

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

artículo científico publicado en 2018

Constitutional trisomy 8 and Behçet syndrome.

artículo científico publicado en 2009

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

artículo científico publicado en 2005

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in sub-Saharan Africa

artículo científico publicado en 2013

Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease

artículo científico publicado en 2016

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

artículo científico publicado en 2016

Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma

artículo científico publicado en 2014

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

artículo científico publicado en 2014

Correction: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

artículo científico publicado en 2016

Detection of copy number changes in DNA from formalin fixed paraffin embedded tissues using paralogue ratio tests.

artículo científico

Determination of beta-defensin genomic copy number in different populations: A comparison of three methods

artículo científico publicado en 2011

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

artículo científico publicado en 2015

Directional and balancing selection in human beta-defensins

artículo científico publicado en 2008

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

artículo científico publicado en 2015

Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene

artículo científico publicado en 2014

Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy

artículo científico publicado en 2015

Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.

artículo científico publicado en 2005

Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection

artículo científico publicado en 2012

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

artículo científico publicado en 2013

Fcγ receptors: genetic variation, function, and disease.

artículo científico publicado en 2015

Genotyping complex structural variation at the malaria-associated human glycophorin locus using a PCR-based strategy

artículo científico publicado en 2020

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

artículo científico publicado en 2013

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function.

artículo científico publicado en 2018

Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

artículo científico publicado en 2018

Human gene copy number variation and infectious disease

artículo científico publicado en 2014

Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.

artículo científico publicado en 2015

No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.

artículo científico publicado en 2017

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

artículo científico publicado en 2003

Population genetics of immune-related multilocus copy number variation in Native Americans

artículo científico publicado en 2017

Psoriasis is associated with increased beta-defensin genomic copy number

artículo científico publicado en 2007

Recurrent mutation at the classical haptoglobin structural polymorphism

artículo científico publicado en 2016

Structural variation of the malaria-associated human glycophorin A-B-E region

artículo científico publicado en 2020

The Challenges of Studying Complex and Dynamic Regions of the Human Genome ⬇️

artículo científico publicado el 1 de enero de 2012

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels ⬇️

scholarly article by Walid Algady et al published 1 November 2018 in American Journal of Human Genetics

The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans.

artículo científico publicado en 2003

The genetically programmed down-regulation of lactase in children ⬇️

artículo científico publicado el 1 de junio de 1998

Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis

artículo científico publicado en 2016

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

artículo científico publicado en 2014

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

artículo científico publicado en 2013

β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans

artículo científico publicado en 2012

Lista de obras de Edward J Hollox

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.

A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia ⬇️

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).

Analysis of copy number variation at DMBT1 and age-related macular degeneration

Assessment of complement C4 gene copy number using the paralog ratio test

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin

Beta-defensins and Crohn's disease: confusion from counting copies.

CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans

Clonal architecture in mesothelioma is prognostic and shapes the tumour microenvironment

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

Constitutional trisomy 8 and Behçet syndrome.

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in sub-Saharan Africa

Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

Correction: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

Detection of copy number changes in DNA from formalin fixed paraffin embedded tissues using paralogue ratio tests.

Determination of beta-defensin genomic copy number in different populations: A comparison of three methods

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

Directional and balancing selection in human beta-defensins

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene

Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy

Evolutionary genetics: genetics of lactase persistence--fresh lessons in the history of milk drinking.

Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Fcγ receptors: genetic variation, function, and disease.

Genotyping complex structural variation at the malaria-associated human glycophorin locus using a PCR-based strategy

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function.

Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

Human gene copy number variation and infectious disease

Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.

No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

Population genetics of immune-related multilocus copy number variation in Native Americans

Psoriasis is associated with increased beta-defensin genomic copy number

Recurrent mutation at the classical haptoglobin structural polymorphism

Structural variation of the malaria-associated human glycophorin A-B-E region

The Challenges of Studying Complex and Dynamic Regions of the Human Genome ⬇️

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels ⬇️

The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans.

The genetically programmed down-regulation of lactase in children ⬇️

Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans