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List of works by Emanuela V Volpi

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

scientific article (publication date: June 2011)

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

scientific article published in June 2010

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

scientific article

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

scientific article published on July 1, 1997

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

scientific article

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

scientific article

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.

scientific article

Cohesion, but not too close

scientific article published on 01 May 2001

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

scientific article

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

scientific article published on 9 December 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

scientific article published on 01 January 1994

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

scientific article published on 22 April 2009

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

scientific article published on 23 August 2017

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

scientific article published on 01 May 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.

scientific article

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

scientific article published on 28 January 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

scientific article

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

scientific article published on 26 October 2010

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

scientific article published on January 1, 2010

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

scientific article published on 18 May 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

scientific article

In vivo modeling of human neuron dynamics and Down syndrome

scientific article published in Science

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

scientific article published on 11 March 2013

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

scientific article published on 10 June 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.

scientific article published in February 2009

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

scientific article

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.

scientific article published on May 1996

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

scientific article

Nucleotide sequence and chromosomal mapping of the 5S rDNA repeat of the crustacean Proasellus coxalis ⬇️

scientific article published on February 1, 1998

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

scientific article

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

scientific article

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

scientific article published on 10 July 2020

Perforin activity at membranes leads to invaginations and vesicle formation

scientific article published on 15 December 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

scientific article published on 31 August 2009

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

scientific article

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

scientific article

Whole genome analysis of a schistosomiasis-transmitting freshwater snail.

scientific article published on 16 May 2017

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