IRIS
RAVAZZOLO, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 25.854
AS - Asia 2.379
NA - Nord America 1.819
Continente sconosciuto - Info sul continente non disponibili 250
SA - Sud America 206
AF - Africa 42
OC - Oceania 4
Totale 30.554
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Nazione #
IT - Italia 25.440
US - Stati Uniti d'America 1.713
SG - Singapore 1.004
CN - Cina 593
VN - Vietnam 348
FR - Francia 190
BD - Bangladesh 149
BR - Brasile 128
HK - Hong Kong 88
DE - Germania 51
CH - Svizzera 42
AR - Argentina 34
CA - Canada 34
ID - Indonesia 33
FI - Finlandia 32
MX - Messico 31
GB - Regno Unito 24
JP - Giappone 22
TH - Thailandia 21
PH - Filippine 18
MY - Malesia 17
IN - India 15
ZA - Sudafrica 14
CO - Colombia 13
IQ - Iraq 13
RU - Federazione Russa 13
ES - Italia 12
CL - Cile 10
NL - Olanda 9
EC - Ecuador 8
GT - Guatemala 8
JM - Giamaica 8
KR - Corea 8
NI - Nicaragua 7
PK - Pakistan 7
MA - Marocco 6
SA - Arabia Saudita 6
VE - Venezuela 6
IE - Irlanda 5
JO - Giordania 5
NP - Nepal 5
UA - Ucraina 5
UZ - Uzbekistan 5
AL - Albania 4
DZ - Algeria 4
KE - Kenya 4
PL - Polonia 4
RO - Romania 4
TN - Tunisia 4
TT - Trinidad e Tobago 4
TW - Taiwan 4
AT - Austria 3
AU - Australia 3
CR - Costa Rica 3
CY - Cipro 3
HN - Honduras 3
KZ - Kazakistan 3
LT - Lituania 3
PR - Porto Rico 3
AZ - Azerbaigian 2
CI - Costa d'Avorio 2
GR - Grecia 2
HR - Croazia 2
PE - Perù 2
PY - Paraguay 2
SE - Svezia 2
TR - Turchia 2
UY - Uruguay 2
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BE - Belgio 1
BH - Bahrain 1
BO - Bolivia 1
BS - Bahamas 1
BW - Botswana 1
CW - ???statistics.table.value.countryCode.CW??? 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 1
GP - Guadalupe 1
IR - Iran 1
LB - Libano 1
LY - Libia 1
MD - Moldavia 1
MM - Myanmar 1
MN - Mongolia 1
NG - Nigeria 1
NZ - Nuova Zelanda 1
OM - Oman 1
RE - Reunion 1
RS - Serbia 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 30.306
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Città #
Genova 16.916
Genoa 5.027
Rapallo 1.735
Vado Ligure 1.369
San Jose 519
Singapore 461
Bordighera 272
Lauterbourg 181
Ashburn 113
Ho Chi Minh City 98
Hong Kong 84
Beijing 83
Hanoi 78
New York 71
Santa Clara 42
Zurich 41
Frankfurt am Main 36
Helsinki 32
Los Angeles 32
Dallas 23
Council Bluffs 21
Haiphong 21
Tokyo 21
Jakarta 19
Bangkok 18
Chicago 18
Mexico City 18
Philadelphia 18
Newark 17
Phoenix 17
Rome 17
Tianjin 17
Atlanta 13
Houston 12
Orem 12
Guangzhou 11
Kuala Selangor 11
Manila 11
Da Nang 10
Naples 10
São Paulo 10
Buffalo 9
Milan 9
Washington 9
Can Tho 8
Charlotte 8
Montreal 8
San Francisco 8
Amsterdam 7
Baghdad 7
Baltimore 7
Johannesburg 7
Managua 7
Nuremberg 7
Seattle 7
Thái Nguyên 7
Biên Hòa 6
Boston 6
Brooklyn 6
City of London 6
Cleveland 6
Detroit 6
Garland 6
Hải Dương 6
London 6
Wilmington 6
Dublin 5
Guatemala City 5
Hartford 5
Jacksonville 5
Louisville 5
Madrid 5
Manchester 5
Memphis 5
Milwaukee 5
Omaha 5
San Diego 5
Santiago 5
Turin 5
Austin 4
Columbia 4
Columbus 4
Curitiba 4
Helotes 4
Jeddah 4
Kansas City 4
Mumbai 4
Palermo 4
Plymouth 4
Quảng Ngãi 4
Rio de Janeiro 4
Shanghai 4
Thái Bình 4
Warsaw 4
Wheaton 4
Alameda 3
Alpharetta 3
Amman 3
Augusta 3
Bình Phước 3
Totale 27.854
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 387
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 292
Assessment of copy number variations in 120 patients with Poland syndrome 264
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 243
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 223
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 216
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release 214
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia 212
An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kB/Rel family members 209
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 206
Genetic Inhibition of the Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated to F508del Cystic Fibrosis Mutation 206
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis 203
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 203
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 200
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. 197
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 197
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease 194
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 194
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 191
C-type natriuretic peptide and overgrowth. 187
Upregulation of TMEM16A protein in bronchial epithelial cells by bacterial pyocyanin 187
PITUITARY HYPOPLASIA AND GROWTH HORMONE DEFICIENCY IN COFFIN-SIRIS SYNDROME 186
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 185
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 185
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 184
5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension. 184
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 183
Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis 183
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 182
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 181
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 180
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 179
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. In: International Workshop Systemic Sclerosis. 178
Double mechanism for apical tryptophan depletion in polarized human bronchial epithelium 178
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease 178
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 177
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 176
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 176
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 176
ROLE OF THE AUTOIMMUNE REGULATOR (AIRE) GENE IN SYSTEMIC SCLEROSIS ASSOCIATED WITH OTHER AUTOIMMUNE DISEASES 175
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 175
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels 175
A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli 174
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 174
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 174
A minimal isoform of the TMEM16A protein associated with chloride channel activity 173
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 171
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 169
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 169
Functional analysis of acid-activated Cl- channels: properties and mechanisms of regulation 169
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 169
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders 166
Anti-hypertensive dihydropyridines as correctors of the CFTR channel gating defect caused by Cystic Fibrosis mutations 166
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 165
Symmetric curvature descriptors for label-free analysis of DNA 164
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 164
Expression variability and function of the RET gene in adult peripheral blood mononuclear cells 164
An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members 163
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 162
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 162
Structure-activity relationship of 1,4-dihydropyridines as potentiators of the cystic fibrosis transmembrane conductance regulator chloride channel. 161
IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma 161
Replication pattern of the pericentromeric region of chromosome 10q and expression of the ret proto-oncogene 160
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 160
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome 158
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 158
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 158
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis 157
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 157
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 157
cDNA sequence and genomic structure of the rat RET proto-oncogene. 156
Non-canonical translation start sites in the TMEM16A chloride channel 155
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin 154
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 154
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 154
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 154
Electrophoretic pattern of NADPH - dependent oxidoreductive activities in the K562 and HL60 leukemic cell lines 153
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 153
Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA. 152
A polymorphic variant inside the Osteopontin gene shows association with disease course in Oligoarticular Juvenile Idiopathic Arthritis 152
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 151
GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis 150
New insights into central nervous system involvement in FOP: Case report and review of the literature 149
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation 148
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. 148
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 148
INTERACTION OF THE LMX1B AND PAX2 GENE PRODUCTS SUGGESTS POSSIBLE MOLECULAR BASIS OF DIFFERENTIAL PHENOTYPES IN NAIL-PATELLA SYNDROME 147
Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia 147
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 147
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 147
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. 147
Lactoferrin as a possible transcriptional regulator 146
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms 145
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 145
Label-free, atomic force microscopy-based mapping of DNA intrinsic curvature for the nanoscale comparative analysis of bent duplexes 145
Regulation of TMEM16A chloride channel properties by alternative splicing. 144
REFINEMENT OF THE SPG9 LOCUS ON CHROMOSOME 10Q23.3-24.2 AND EXCLUSION OF CANDIDATE GENES 144
Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines 143
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 142
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 142
Totale 17.468
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Categoria #
all - tutte 89.314
article - articoli 84.396
book - libri 0
conference - conferenze 3.958
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 960
Totale 178.628
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20265.684 727 175 235 361 841 615 966 268 359 508 281 348
2026/2027670 670 0 0 0 0 0 0 0 0 0 0 0
Totale 30.554