CNR Institutional Research Information System

BIONE, SILVIA
 Distribuzione geografica
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Continente #
AS - Asia 157
NA - Nord America 39
EU - Europa 9
Totale 205
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Nazione #
SG - Singapore 137
US - Stati Uniti d'America 39
KR - Corea 18
IT - Italia 8
CN - Cina 1
JP - Giappone 1
NL - Olanda 1
Totale 205
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Città #
Singapore 101
Seoul 18
Santa Clara 13
Rome 2
Amsterdam 1
Pavia 1
Tokyo 1
Washington 1
Totale 138
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Nome #
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype 7
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 5
CHARACTERIZATION OF MIR-1307 BY MICROARRAYS ANALYSIS 5
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 4
Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. 4
Are myocardial infarction-associated single nucleotide polymorphisms associated with ischemic stroke? 4
CorrelaGenes: a new tool for the interpretation of the human trascriptome. 4
CorrelaGenes: a new tool for the interpretation of the human transcriptome. 4
Identification of a novel antiviral micro-RNA targeting the NS1 protein of the H1N1 pandemic human influenza virus and a corresponding viral escape mutation 4
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. 3
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network 3
Cross-analysis of gene and miRNA genome-wide expression profiles in human fibroblasts at different stages of transformation. 3
Chronic Replication Problems Impact Cell Morphology and Adhesion of DNA Ligase I Defective Cells 3
CABGen: new bioinformatic resources at IGM-CNR. 3
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy 3
CorrelaGenes: a new tool for the interpretation of the human transcriptome 3
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 3
Disease and health in the Italian population: insight from genome-wide approaches. 3
DNA damage hampers cell morphology and motility 3
A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. 3
The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. 3
Characterization of the biological processes shaping the genetic structure of the Italian population. 3
High throughput screening of candidate genes for X-linked premature ovarian failure 3
A new system biology approach to mine expression data from gene functional analysis. 3
GC-AG Introns Features in Long Non-coding and Protein-Coding Genes Suggest Their Role in Gene Expression Regulation 3
Analysis of intergenic conserved sequences in the POF critical region on X chromosome 3
The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) involved in actin dynamics of ovarian granulosa cells 3
DIAPH2 is a susceptibility gene for POF 3
Identifying genetic factors predisposing to cerebrovascular disorders in the Italian population. 3
Contribution of the 9p21.3 genomic region to the pathogenesis of cerbrovascular disorders in the Italian population. 3
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. 2
Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy 2
An Association Rule Mining Approach to Discover lncRNAs Expression Patterns in Cancer Datasets. 2
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 2
DEAD-Box RNA Helicases DDX3X and DDX5 as Oncogenes or Oncosuppressors: A Network Perspective 2
TERRA transcription destabilizes telomere integrity to initiate break-induced replication in human ALT cells 2
Heritability of young- and old-onset ischaemic stroke 2
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 2
Replication of two new GWAS-identified loci associated with ischemic stroke in the Italian CEDIR Cohort 2
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. 2
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. 2
X; autosome balanced translocations and ovarian failure: chromatin organization around the breakpoints premature 2
Cell migration and cell cycle genes are highly modulated during neoplastic transformation of human fibroblasts 2
Premature Ovarian Failure (POF): lo stato dell arte 2
Emery-Dreifuss Muscular Dystrophy 2
The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. 2
Difetti del cromosoma X e menopausa precoce 2
Dissecting the genetic basis and molecular mechanisms of Premature Ovarian Failure. 2
Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. 2
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy 2
A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. 2
Inside complex disorder pathways through gene expression analysis 2
Alternative Splicing Changes Promoted by NOVA2 Upregulation in Endothelial Cells and Relevance for Gastric Cancer 2
DIAPH2 is a susceptibility gene for POF 2
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 2
Characterization of phenotypic traits in val Borbera, a large genetic isolate in Northern Italy 2
Identifying new genetic risk-variants for Cerebrovascular Ischemic Disease (CVID): a genome-wide approach. 2
Molecular genetics of POF2 locus in Xq13.3-22 (DACH2; DIAPH2) 2
Association studies of candidate genes for Premature Ovarian Failure (POF) 2
Emerin evaluation in Emery-Dreifuss muscular dystrophy patients 2
Spatial and temporal expression of POF1B, a gene expressed in epithelia. 2
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 2
An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. 2
Chronic replication stress impacts on cell morphology and adhesion 2
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 2
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. 2
Genealogy reconstruction of the Val Borbera isolated population. 1
Premature Ovarian Failure (POF) in isolated populations 1
Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy 1
X chromosome genes and premature ovarian failure. 1
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy 1
Different molecular mechanisms are responsible for X-linked Premature Ovarian Failure 1
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. 1
POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. 1
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. 1
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. 1
Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. 1
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. 1
Descriptive analysis of Val Borbera population structure: mtDNA, Y chromosome polymorphisms and linkage disequilibrium. 1
Genealogy reconstruction of the Val Borbera isolated population. 1
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 1
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 1
Dissecting the genetic basis and molecular mechanisms of premature ovarian failure 1
The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) and its encoded protein is involved in actin dynamics of ovarian granulosa cells. 1
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 1
Variation of hemoglobin levels in normal Italian populations from genetic isolates 1
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes 1
The Val Borbera Project: epidemiological and genealogical analysis of an isolated population in Northern Italy 1
X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. 1
TERRA ONTseq: a long-read-based sequencing pipeline to study the human telomeric transcriptome 1
HIGH THROUGHPUT SCREENING OF CANDIDATE GENES FOR X-LINKED PREMATURE OVARIAN FAILURE: THE STUDY DESIGN 1
The human X chromosome in the etiology of Premature Ovarian Failure (POF) 1
Mutations in the human DACH2 gene as risk factors for Premature Ovarian Failure 1
The Genetic Structure of the Val Borbera Population: mtDNA And Y-Chromosome Data. 1
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 1
Deletions in distal Xq and ovarian failure 1
Totale 206
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Categoria #
all - tutte 1.655
article - articoli 923
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 14
Totale 2.592
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202426 0 0 0 0 0 0 0 0 3 1 20 2
2024/2025180 2 7 117 54 0 0 0 0 0 0 0 0
Totale 206