Lista de obras - Valentina Cipriani - Dominio Público Uruguay

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

Age-related macular degeneration and the complement system

artículo científico publicado el 23 de julio de 2011

Age-related macular degeneration: the importance of family history as a risk factor

article

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

artículo científico publicado en 2017

Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis

artículo científico publicado en 2019

Autobiography as a tool for self-construction: a study of patients with mental disorders

artículo científico publicado en 2008

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

artículo científico publicado en 2017

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

artículo científico publicado en 2012

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

artículo científico

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

artículo científico publicado en 2011

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Familial aggregation of early-onset myocardial infarction

artículo científico publicado en 2010

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

artículo científico publicado en 2011

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

artículo científico publicado en 2012

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

artículo científico publicado en 2017

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

artículo científico publicado en 2013

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

artículo científico publicado en 2020

Lipid peroxidation contributes to immune reactions associated with alcoholic liver disease

artículo científico publicado en 2002

Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.

artículo científico publicado en 2009

Moderate alcohol consumption increases oxidative stress in patients with chronic hepatitis C.

artículo científico publicado en 2003

N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels ⬇️

artículo científico publicado el 22 de febrero de 2012

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation

artículo científico publicado en 2013

Neuroradiology and headaches

artículo científico publicado en 2006

No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

artículo científico publicado en 2011

Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust

artículo científico publicado en 2015

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

artículo científico publicado en 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Proteome profile and biological activity of caprine, bovine and human milk fat globules

artículo científico publicado en 2012

Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study

artículo científico publicado en 2008

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

artículo científico publicado en 2019

Use of preoperative and intraoperative magnetic resonance tractography in intracranial tumor surgery

artículo científico publicado en 2008

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

artículo científico publicado en 2011

Y chromosome mosaicism is associated with age-related macular degeneration

artículo científico publicado en 2018

Lista de obras de Valentina Cipriani

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Age-related macular degeneration and the complement system

Age-related macular degeneration: the importance of family history as a risk factor

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

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

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

Association study of single nucleotide polymorphisms in IL-10 and IL-17 genes with the severity of microbial keratitis

Autobiography as a tool for self-construction: a study of patients with mental disorders

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Familial aggregation of early-onset myocardial infarction

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

Lipid peroxidation contributes to immune reactions associated with alcoholic liver disease

Long-term effect of platelet lysate on primary fibroblasts highlighted with a proteomic approach.

Moderate alcohol consumption increases oxidative stress in patients with chronic hepatitis C.

N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels ⬇️

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation

Neuroradiology and headaches

No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration

Ophthalmic statistics note 7: multiple hypothesis testing—to adjust or not to adjust

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Proteome profile and biological activity of caprine, bovine and human milk fat globules

Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study

Seven new loci associated with age-related macular degeneration

The Human Phenotype Ontology in 2017

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

Use of preoperative and intraoperative magnetic resonance tractography in intracranial tumor surgery

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

Y chromosome mosaicism is associated with age-related macular degeneration