IRIS
RAVAZZOLO, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 25.785
AS - Asia 2.263
NA - Nord America 1.129
SA - Sud America 181
AF - Africa 40
OC - Oceania 4
Totale 29.402
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Nazione #
IT - Italia 25.388
US - Stati Uniti d'America 1.060
SG - Singapore 1.003
CN - Cina 586
VN - Vietnam 345
FR - Francia 185
BR - Brasile 117
HK - Hong Kong 85
BD - Bangladesh 51
DE - Germania 51
CH - Svizzera 41
AR - Argentina 33
ID - Indonesia 33
FI - Finlandia 32
MX - Messico 26
CA - Canada 25
GB - Regno Unito 24
JP - Giappone 22
TH - Thailandia 20
PH - Filippine 18
MY - Malesia 16
IN - India 14
IQ - Iraq 13
RU - Federazione Russa 13
ZA - Sudafrica 13
NL - Olanda 9
CL - Cile 8
CO - Colombia 8
ES - Italia 8
KR - Corea 8
GT - Guatemala 7
PK - Pakistan 7
MA - Marocco 6
SA - Arabia Saudita 6
IE - Irlanda 5
JO - Giordania 5
UZ - Uzbekistan 5
AL - Albania 4
DZ - Algeria 4
EC - Ecuador 4
KE - Kenya 4
NP - Nepal 4
TN - Tunisia 4
TW - Taiwan 4
VE - Venezuela 4
AT - Austria 3
AU - Australia 3
CY - Cipro 3
JM - Giamaica 3
KZ - Kazakistan 3
LT - Lituania 3
PL - Polonia 3
RO - Romania 3
AZ - Azerbaigian 2
CI - Costa d'Avorio 2
GR - Grecia 2
HR - Croazia 2
NI - Nicaragua 2
PE - Perù 2
PY - Paraguay 2
SE - Svezia 2
TR - Turchia 2
UA - Ucraina 2
UY - Uruguay 2
BA - Bosnia-Erzegovina 1
BE - Belgio 1
BH - Bahrain 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 1
GP - Guadalupe 1
HN - Honduras 1
IR - Iran 1
LB - Libano 1
LY - Libia 1
MM - Myanmar 1
MN - Mongolia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
PR - Porto Rico 1
RE - Reunion 1
RS - Serbia 1
SI - Slovenia 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
Totale 29.402
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Città #
Genova 16.916
Genoa 5.027
Rapallo 1.735
Vado Ligure 1.369
Singapore 461
San Jose 443
Bordighera 272
Lauterbourg 181
Ho Chi Minh City 98
Hong Kong 83
Ashburn 79
Beijing 78
Hanoi 76
New York 56
Zurich 41
Frankfurt am Main 36
Helsinki 32
Santa Clara 29
Los Angeles 24
Haiphong 21
Tokyo 21
Council Bluffs 20
Jakarta 19
Mexico City 18
Bangkok 17
Tianjin 17
Dallas 15
Orem 12
Kuala Selangor 11
Manila 11
Da Nang 10
Guangzhou 10
Rome 10
Chicago 9
São Paulo 9
Atlanta 8
Can Tho 8
Montreal 8
Phoenix 8
Amsterdam 7
Baghdad 7
Johannesburg 7
Nuremberg 7
Thái Nguyên 7
Biên Hòa 6
Buffalo 6
City of London 6
Hải Dương 6
London 6
Charlotte 5
Dublin 5
Houston 5
Madrid 5
Milan 5
Naples 5
Philadelphia 5
San Francisco 5
Santiago 5
Guatemala City 4
Jeddah 4
Manchester 4
Quảng Ngãi 4
Rio de Janeiro 4
Shanghai 4
Thái Bình 4
Turin 4
Amman 3
Boston 3
Brooklyn 3
Bình Phước 3
Columbia 3
Curitiba 3
Hangzhou 3
Jacksonville 3
Lahore 3
Memphis 3
Miami 3
Mumbai 3
Nairobi 3
Nicosia 3
Oxford 3
Palermo 3
Phủ Lý 3
Porto Alegre 3
Santa Rosa 3
Sydney 3
Tashkent 3
Toronto 3
Warsaw 3
Abidjan 2
Basingstoke 2
Bekasi 2
Bình Dương 2
Campinas 2
Cape Town 2
Chennai 2
Córdoba 2
Denver 2
Des Moines 2
Florissant 2
Totale 27.531
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 385
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 289
Assessment of copy number variations in 120 patients with Poland syndrome 257
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 238
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 213
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 213
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia 207
An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kB/Rel family members 205
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis 201
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 200
Genetic Inhibition of the Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated to F508del Cystic Fibrosis Mutation 197
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release 196
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 195
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 193
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients Clin Chem Lab Med. 2011 Jan;49(1):49-54. 192
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 192
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 190
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease 189
c-Rel and p65 subunits bind to an upstream NF-kB site in human granulocyte macrophage-colony stimulating factor promoter involved in phorbol ester response in 5637 cells 183
C-type natriuretic peptide and overgrowth. 182
Upregulation of TMEM16A protein in bronchial epithelial cells by bacterial pyocyanin 182
PITUITARY HYPOPLASIA AND GROWTH HORMONE DEFICIENCY IN COFFIN-SIRIS SYNDROME 181
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 181
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 179
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 178
Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis 178
5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension. 178
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 177
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 177
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 177
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease 176
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. In: International Workshop Systemic Sclerosis. 174
Double mechanism for apical tryptophan depletion in polarized human bronchial epithelium 174
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 174
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 173
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 171
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels 171
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 171
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 170
A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli 170
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 169
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 169
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 169
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 168
ROLE OF THE AUTOIMMUNE REGULATOR (AIRE) GENE IN SYSTEMIC SCLEROSIS ASSOCIATED WITH OTHER AUTOIMMUNE DISEASES 166
A minimal isoform of the TMEM16A protein associated with chloride channel activity 166
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 165
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 165
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders 163
Functional analysis of acid-activated Cl- channels: properties and mechanisms of regulation 163
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 163
Symmetric curvature descriptors for label-free analysis of DNA 162
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 160
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 159
Anti-hypertensive dihydropyridines as correctors of the CFTR channel gating defect caused by Cystic Fibrosis mutations 159
An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members 159
IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma 158
Structure-activity relationship of 1,4-dihydropyridines as potentiators of the cystic fibrosis transmembrane conductance regulator chloride channel. 157
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 157
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 157
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 156
Expression variability and function of the RET gene in adult peripheral blood mononuclear cells 156
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 156
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 155
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 155
cDNA sequence and genomic structure of the rat RET proto-oncogene. 154
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome 154
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis 154
Replication pattern of the pericentromeric region of chromosome 10q and expression of the ret proto-oncogene 153
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 153
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 152
Non-canonical translation start sites in the TMEM16A chloride channel 151
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin 150
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 150
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 149
Electrophoretic pattern of NADPH - dependent oxidoreductive activities in the K562 and HL60 leukemic cell lines 149
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 149
GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis 148
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 147
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 147
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 146
Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA. 145
New insights into central nervous system involvement in FOP: Case report and review of the literature 145
A polymorphic variant inside the Osteopontin gene shows association with disease course in Oligoarticular Juvenile Idiopathic Arthritis 145
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. 145
INTERACTION OF THE LMX1B AND PAX2 GENE PRODUCTS SUGGESTS POSSIBLE MOLECULAR BASIS OF DIFFERENTIAL PHENOTYPES IN NAIL-PATELLA SYNDROME 144
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation 144
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies 144
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 143
Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia 142
Lactoferrin as a possible transcriptional regulator 142
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms 142
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. 27(10):1195-200. 142
Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines 140
Regulation of TMEM16A chloride channel properties by alternative splicing. 140
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 140
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 140
REFINEMENT OF THE SPG9 LOCUS ON CHROMOSOME 10Q23.3-24.2 AND EXCLUSION OF CANDIDATE GENES 139
MILD FUNCTIONAL EFFECTS OF A NOVEL GFAP MUTANT ALLELE IDENTIFIED IN A FAMILIAL CASE OF ADULT-ONSET ALEXANDER DISEASE 139
Label-free, atomic force microscopy-based mapping of DNA intrinsic curvature for the nanoscale comparative analysis of bent duplexes 138
Totale 16.966
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Categoria #
all - tutte 85.006
article - articoli 80.302
book - libri 0
conference - conferenze 3.780
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 924
Totale 170.012
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021112 0 0 0 0 0 0 0 0 0 0 0 112
2021/20222.546 70 145 178 348 105 154 156 641 104 265 73 307
2022/20232.133 230 134 27 217 336 405 3 170 372 6 197 36
2023/20241.460 80 179 21 141 94 230 72 308 50 47 60 178
2024/20253.448 62 281 135 226 428 362 337 578 148 148 319 424
2025/20265.450 727 175 235 361 841 615 966 268 359 508 281 114
Totale 29.650