Lista de obras - Emanuela V Volpi - Dominio Público Uruguay

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

artículo científico publicado en 2011

A novel three-dimensional culture system allows prolonged culture of functional human granulosa cells and mimics the ovarian environment.

artículo científico publicado en 2010

Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome

artículo científico publicado en 2010

An Integrated Physical and Genetic Map Spanning Chromosome Band 10q24 ⬇️

artículo científico publicado el 1 de julio de 1997

An improved technique for chromosomal analysis of human ES and iPS cells.

artículo científico publicado en 2011

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

artículo científico publicado en 2005

Author reply

scientific article published on 01 April 2015

Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.

artículo científico publicado en 2011

Cohesion, but not too close

artículo científico publicado en 2001

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

artículo científico publicado en 2011

Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y.

artículo científico publicado en 2012

Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1

artículo científico publicado en 1994

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

artículo científico publicado en 2009

Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail

artículo científico publicado en 2017

Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1.

artículo científico publicado en 1995

DNA damage in obesity: Initiator, promoter and predictor of cancer

scientific article published on 17 August 2018

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

artículo científico publicado en 2014

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

artículo científico publicado en 2014

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes

scientific article published on 01 October 1997

Endothelial Nox2 overexpression potentiates vascular oxidative stress and hemodynamic response to angiotensin II: studies in endothelial-targeted Nox2 transgenic mice

artículo científico publicado en 2007

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis

artículo científico publicado en 2010

Fluorescence in situ hybridization (FISH) for genomic investigations in rat

artículo científico publicado el 1 de enero de 2010

Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells

artículo científico publicado en 2011

GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda)

scientific article published on 01 March 1991

HAC stability in murine cells is influenced by nuclear localization and chromatin organization

artículo científico publicado en 2009

In vivo modeling of human neuron dynamics and Down syndrome

artículo científico publicado en 2018

Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.

artículo científico publicado en 2013

Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2.

artículo científico publicado en 2015

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

artículo científico publicado en 2009

Mini review: form and function in the human interphase chromosome.

artículo científico publicado en 2000

Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site.

artículo científico publicado en 1996

More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization.

artículo científico publicado en 1996

Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples.

artículo científico publicado en 1998

PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes.

artículo científico publicado en 2006

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

artículo científico publicado en 2020

Perforin activity at membranes leads to invaginations and vesicle formation

artículo científico publicado en 2011

Search for neuroblastoma loci: characterization of tumor cell lines that could facilitate their positional cloning

scientific article published on 01 January 1997

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism

artículo científico publicado en 2009

Structures of Lysenin Reveal a Shared Evolutionary Origin for Pore-Forming Proteins And Its Mode of Sphingomyelin Recognition

artículo científico publicado en 2012

Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57

scientific article published on 01 January 1994

The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci

artículo científico publicado en 2006

Whole genome analysis of a schistosomiasis-transmitting freshwater snail.

artículo científico publicado en 2017

Lista de obras de Emanuela V Volpi

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

A novel three-dimensional culture system allows prolonged culture of functional human granulosa cells and mimics the ovarian environment.

Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome

An Integrated Physical and Genetic Map Spanning Chromosome Band 10q24 ⬇️

An improved technique for chromosomal analysis of human ES and iPS cells.

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

Author reply

Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.

Cohesion, but not too close

Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y.

Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA cluster (RNU1) within 400 kb of the chromosome region 1p36.1

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail

Cytogenetic and molecular studies on the neuroblastoma cell line NGP: identification of a reciprocal t(1;15) involving the "consensus region" 1p36.1.

DNA damage in obesity: Initiator, promoter and predictor of cancer

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes

Endothelial Nox2 overexpression potentiates vascular oxidative stress and hemodynamic response to angiotensin II: studies in endothelial-targeted Nox2 transgenic mice

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis

Fluorescence in situ hybridization (FISH) for genomic investigations in rat

Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells

GATA repeats in the genome of Asellus aquaticus (Crustacea, Isopoda)

HAC stability in murine cells is influenced by nuclear localization and chromatin organization

In vivo modeling of human neuron dynamics and Down syndrome

Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.

Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2.

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Mini review: form and function in the human interphase chromosome.

Molecular and genetic studies on the region of translocation and duplication in the neuroblastoma cell line NGP at the 1p36.13-p36.32 chromosomal site.

More detailed characterization of some of the HL60 karyotypic features by fluorescence in situ hybridization.

Numerical abnormalities of chromosomes 1 and 10 in endometrial adenocarcinoma: fluorescence in situ hybridization analysis of 23 archival paraffin-embedded samples.

PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes.

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

Perforin activity at membranes leads to invaginations and vesicle formation

Search for neuroblastoma loci: characterization of tumor cell lines that could facilitate their positional cloning

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism

Structures of Lysenin Reveal a Shared Evolutionary Origin for Pore-Forming Proteins And Its Mode of Sphingomyelin Recognition

Subregional mapping of the human lymphocyte-specific protein tyrosine kinase gene (LCK) to 1p35-->p34.3 and its position relative to the 1p marker D1S57

The leukocyte receptor complex in chicken is characterized by massive expansion and diversification of immunoglobulin-like Loci

Whole genome analysis of a schistosomiasis-transmitting freshwater snail.