Lista de obras - Marijke I Zonneveld - Dominio Público Uruguay

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

artículo científico publicado el 3 de mayo de 2012

CRB1 mutation spectrum in inherited retinal dystrophies

artículo científico publicado en 2004

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

artículo científico publicado en 2005

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

artículo científico publicado en 2007

Comprehensive Proteomic Analysis of Human Milk-derived Extracellular Vesicles Unveils a Novel Functional Proteome Distinct from Other Milk Components

artículo científico publicado en 2016

EGFRvIII expression triggers a metabolic dependency and therapeutic vulnerability sensitive to autophagy inhibition

artículo científico publicado en 2018

EV-TRACK: transparent reporting and centralizing knowledge in extracellular vesicle research.

artículo científico publicado en 2017

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

artículo científico publicado en 2011

Extracellular Vesicles as Transmitters of Hypoxia Tolerance in Solid Cancers

artículo científico publicado en 2019

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

artículo científico publicado en 2011

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

artículo científico publicado en 2010

Human milk extracellular vesicles target nodes in interconnected signalling pathways that enhance oral epithelial barrier function and dampen immune responses

artículo científico publicado en 2021

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

artículo científico publicado en 2008

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

Intratumoral administration of recombinant human interleukin 12 in head and neck squamous cell carcinoma patients elicits a T-helper 1 profile in the locoregional lymph nodes

artículo científico publicado en 2004

Iron deficiency-induced loss of skeletal muscle mitochondrial proteins and respiratory capacity; the role of mitophagy and secretion of mitochondria-containing vesicles

artículo científico publicado en 2020

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

artículo científico publicado en 2004

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

artículo científico publicado en 2006

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

artículo científico publicado en 2007

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

artículo científico publicado en 2011

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

artículo científico publicado en 2007

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

artículo científico publicado en 2006

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

artículo científico publicado en 2010

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

Natural T-cell ligands that are created by genetic variants can be transferred between cells by extracellular vesicles

artículo científico publicado en 2018

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

artículo científico publicado en 2012

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

artículo científico publicado en 2010

Pathogen recognition by NK cells amplifies the pro-inflammatory cytokine production of monocyte-derived DC via IFN-γ.

artículo científico publicado en 2018

Recovery of extracellular vesicles from human breast milk is influenced by sample collection and vesicle isolation procedures

artículo científico publicado en 2014

Secretion of pro-angiogenic extracellular vesicles during hypoxia is dependent on the autophagy-related protein GABARAPL1

artículo científico publicado en 2021

Lista de obras de Marijke I Zonneveld

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

CRB1 mutation spectrum in inherited retinal dystrophies

Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Comprehensive Proteomic Analysis of Human Milk-derived Extracellular Vesicles Unveils a Novel Functional Proteome Distinct from Other Milk Components

EGFRvIII expression triggers a metabolic dependency and therapeutic vulnerability sensitive to autophagy inhibition

EV-TRACK: transparent reporting and centralizing knowledge in extracellular vesicle research.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Extracellular Vesicles as Transmitters of Hypoxia Tolerance in Solid Cancers

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

Human milk extracellular vesicles target nodes in interconnected signalling pathways that enhance oral epithelial barrier function and dampen immune responses

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Intratumoral administration of recombinant human interleukin 12 in head and neck squamous cell carcinoma patients elicits a T-helper 1 profile in the locoregional lymph nodes

Iron deficiency-induced loss of skeletal muscle mitochondrial proteins and respiratory capacity; the role of mitophagy and secretion of mitochondria-containing vesicles

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Natural T-cell ligands that are created by genetic variants can be transferred between cells by extracellular vesicles

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

Pathogen recognition by NK cells amplifies the pro-inflammatory cytokine production of monocyte-derived DC via IFN-γ.

Recovery of extracellular vesicles from human breast milk is influenced by sample collection and vesicle isolation procedures

Secretion of pro-angiogenic extracellular vesicles during hypoxia is dependent on the autophagy-related protein GABARAPL1