CNR Institutional Research Information System

TONIOLO, DANIELA
 Distribuzione geografica
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Continente #
AS - Asia 1.628
NA - Nord America 813
SA - Sud America 350
EU - Europa 228
AF - Africa 27
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.047
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Nazione #
US - Stati Uniti d'America 767
SG - Singapore 700
CN - Cina 362
BR - Brasile 279
HK - Hong Kong 182
VN - Vietnam 161
KR - Corea 99
IT - Italia 51
NL - Olanda 44
AR - Argentina 35
GB - Regno Unito 29
DE - Germania 24
FR - Francia 23
BD - Bangladesh 18
CA - Canada 18
IN - India 18
MX - Messico 16
JP - Giappone 15
IL - Israele 12
EC - Ecuador 11
CO - Colombia 10
SA - Arabia Saudita 10
FI - Finlandia 9
ID - Indonesia 9
IQ - Iraq 9
ZA - Sudafrica 9
PK - Pakistan 7
PL - Polonia 7
ES - Italia 5
MA - Marocco 5
PY - Paraguay 5
RS - Serbia 5
KZ - Kazakistan 4
RU - Federazione Russa 4
TR - Turchia 4
BH - Bahrain 3
CL - Cile 3
HN - Honduras 3
SE - Svezia 3
TN - Tunisia 3
UA - Ucraina 3
UY - Uruguay 3
AL - Albania 2
AZ - Azerbaigian 2
BJ - Benin 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
GT - Guatemala 2
IE - Irlanda 2
JO - Giordania 2
LT - Lituania 2
LV - Lettonia 2
NP - Nepal 2
PE - Perù 2
PR - Porto Rico 2
SI - Slovenia 2
TH - Thailandia 2
VE - Venezuela 2
AM - Armenia 1
AT - Austria 1
BB - Barbados 1
BE - Belgio 1
BG - Bulgaria 1
BW - Botswana 1
CG - Congo 1
CH - Svizzera 1
CW - ???statistics.table.value.countryCode.CW??? 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 1
GE - Georgia 1
GH - Ghana 1
GR - Grecia 1
HU - Ungheria 1
KG - Kirghizistan 1
LB - Libano 1
LY - Libia 1
MG - Madagascar 1
MK - Macedonia 1
MT - Malta 1
MY - Malesia 1
PH - Filippine 1
SV - El Salvador 1
SZ - Regno dello Swaziland 1
UZ - Uzbekistan 1
Totale 3.047
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Città #
Santa Clara 416
Singapore 405
Hefei 188
Hong Kong 181
Beijing 100
Seoul 98
Ho Chi Minh City 62
Ashburn 53
Los Angeles 42
Hanoi 35
San Jose 33
Dallas 32
São Paulo 28
Buffalo 21
Frankfurt am Main 12
Rio de Janeiro 12
Dhaka 10
Helsinki 9
Minamishinagawa 9
Lauterbourg 8
Belo Horizonte 7
Bologna 7
Haiphong 7
Jeddah 7
Rome 7
Brasília 6
Da Nang 6
London 6
New York 6
Toronto 6
Boston 5
Ottawa 5
Porto Alegre 5
Salvador 5
Thái Bình 5
Warsaw 5
Atlanta 4
Baghdad 4
Bengaluru 4
Campinas 4
Campo Grande 4
Chicago 4
Denver 4
Falkenstein 4
Johannesburg 4
Portsmouth 4
Tokyo 4
Anápolis 3
Aracaju 3
Assemini 3
Belgrade 3
Caxias do Sul 3
Düsseldorf 3
Fortaleza 3
Guarujá 3
Guayaquil 3
Manchester 3
Montevideo 3
Mumbai 3
Orem 3
Querétaro 3
Quito 3
Stockholm 3
Thái Nguyên 3
Tunis 3
Vũng Tàu 3
Amman 2
Amsterdam 2
Araras 2
Araçatuba 2
Avellino 2
Baku 2
Basra 2
Belém 2
Benito Juarez 2
Biên Hòa 2
Blumenau 2
Boardman 2
Bogotá 2
Bình Dương 2
Bình Dương Province 2
Campos dos Goytacazes 2
Can Tho 2
City of London 2
Cotonou 2
Curitiba 2
Dammam 2
Detroit 2
Dublin 2
El Progreso 2
Guarulhos 2
Houston 2
Ipatinga 2
Izmir 2
Joinville 2
Juiz de Fora 2
Jundiaí 2
Los Polvorines 2
Manaus 2
Marigliano 2
Totale 2.018
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Nome #
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. 76
An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells. 73
X chromosome genes and premature ovarian failure. 70
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. 68
X chromosome and ovarian failure. 67
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 62
Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations 57
Cardiovascular Risk Factors and MRI Markers of Cerebral Small Vessel Disease: A Mendelian Randomization Study 53
Genealogy reconstruction of the Val Borbera isolated population. 51
DNA sequences of human Glucose 6-Phosphate Dehydrogenase cloned in pBR322 51
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. 50
Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease 48
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 43
Seventy-five genetic loci influencing the human red blood cell 43
A reference panel of 64,976 haplotypes for genotype imputation 42
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 42
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 40
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 38
Dissecting the genetic basis and molecular mechanisms of Premature Ovarian Failure. 37
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty 37
Whole-genome sequence-based analysis of thyroid function 37
Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans 36
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy 36
Genetic analysis of over one million people identifies 535 novel loci for blood pressure 35
The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. 35
High throughput screening of candidate genes for X-linked premature ovarian failure 35
The X-linked DIAPH2 gene is a risk-factor for Premature Ovarian Failure (POF) and accounts for female preponderance among POF patients offspring. 34
The X-linked DIAPH2 gene is a risk factor for Premature Ovarian Failure (POF) involved in actin dynamics of ovarian granulosa cells 34
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis 33
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. 33
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. 33
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy 32
New gene functions in megakaryopoiesis and platelet formation. 32
Interethnic analyses of blood pressure loci in populations of East Asian and European descent 31
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. 31
Forebrain deletion of alphaGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections. 31
The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis 31
Corrigendum: Rare coding variants and X-linked loci associated with age at menarche 31
Factors associated with food liking and their relationship with metabolic traits in Italian cohorts 31
Spatial and temporal expression of POF1B, a gene expressed in epithelia. 30
HIGH THROUGHPUT SCREENING OF CANDIDATE GENES FOR X-LINKED PREMATURE OVARIAN FAILURE: THE STUDY DESIGN 30
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. 29
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. 28
Emerin evaluation in Emery-Dreifuss muscular dystrophy patients 28
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 28
The human X chromosome in the etiology of Premature Ovarian Failure (POF) 28
Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. 27
Association studies of candidate genes for Premature Ovarian Failure (POF) 27
Serum Hepcidin Levels Correlate with Phenotypes of the Metabolic Syndrome At Population Level 26
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. 26
Dissecting the genetic basis and molecular mechanisms of premature ovarian failure 26
Serum Hepcidin levels and association studies of TMPRSS6 and HFE variants provide further insights into regulation of iron homeostasis 26
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 26
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 25
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. 25
X; autosome balanced translocations and ovarian failure: chromatin organization around the breakpoints premature 25
A novel X-linked gene, G4.5. is responsible for Barth syndrome. 25
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? 25
Mutations in the human DACH2 gene as risk factors for Premature Ovarian Failure 25
Serum levels of the hepcidin-20 isoform in a large general population: the Val Borbera study. 24
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 24
A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. 24
Recent Advances of Haematology Immunology and Blood transfusion 24
Mapping the X-liked Lymphoproliferative ( XLP ) gene 24
Deletions in distal Xq and ovarian failure 24
Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. 23
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 23
POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. 23
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. 23
Variation of hemoglobin levels in normal Italian populations from genetic isolates 22
Analysis of intergenic conserved sequences in the POF critical region on X chromosome 22
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes 22
Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. 22
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. 22
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy 21
Different molecular mechanisms are responsible for X-linked Premature Ovarian Failure 21
Emery-Dreifuss Muscular Dystrophy 21
Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28. 21
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. 21
Multiple loci are associated with white blood cell phenotypes. 21
X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. 21
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 21
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss 20
The Val Borbera Project: epidemiological and genealogical analysis of an isolated population in Northern Italy 20
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. 19
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. 19
A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. 19
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. 19
Characterization of phenotypic traits in val Borbera, a large genetic isolate in Northern Italy 19
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7 19
Computer-based genealogy reconstruction in founder populations. 19
Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients. 18
Descriptive analysis of Val Borbera population structure: mtDNA, Y chromosome polymorphisms and linkage disequilibrium. 18
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 18
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 17
The Genetic Structure of the Val Borbera Population: mtDNA And Y-Chromosome Data. 17
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. 16
Genealogy reconstruction of the Val Borbera isolated population. 16
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. 16
Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. 15
Totale 3.052
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Categoria #
all - tutte 10.651
article - articoli 8.118
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 152
Totale 18.921
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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 0 2 23 1
2024/20251.499 1 6 98 58 386 122 13 71 34 74 354 282
2025/20261.566 150 254 234 335 436 112 45 0 0 0 0 0
Totale 3.091