IRIS
RAVAZZOLO, ROBERTO
 Distribuzione geografica
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Continente #
EU - Europa 21.448
Totale 21.448
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Nazione #
IT - Italia 21.448
Totale 21.448
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Città #
Genova 16.916
Rapallo 1.735
Genoa 1.614
Vado Ligure 911
Bordighera 272
Totale 21.448
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Nome #
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome 354
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 164
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 162
An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kB/Rel family members 150
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 147
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 147
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 146
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia 145
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 144
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 142
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 140
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis 140
C-type natriuretic peptide and overgrowth. 139
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 138
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 137
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease 134
Genetic Inhibition of the Ubiquitin Ligase Rnf5 Attenuates Phenotypes Associated to F508del Cystic Fibrosis Mutation 134
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 134
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release 134
Structure-activity relationship of 1,4-dihydropyridines as potentiators of the cystic fibrosis transmembrane conductance regulator chloride channel. 133
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 133
PITUITARY HYPOPLASIA AND GROWTH HORMONE DEFICIENCY IN COFFIN-SIRIS SYNDROME 132
Double mechanism for apical tryptophan depletion in polarized human bronchial epithelium 131
Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis 131
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 131
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 131
Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis 131
HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders 130
Assessment of copy number variations in 120 patients with Poland syndrome 130
Upregulation of TMEM16A protein in bronchial epithelial cells by bacterial pyocyanin 129
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. In: International Workshop Systemic Sclerosis. 128
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 128
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 128
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 126
Symmetric curvature descriptors for label-free analysis of DNA 125
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease 125
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease 125
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin 124
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels 124
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 124
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome 123
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes 123
INTERACTION OF THE LMX1B AND PAX2 GENE PRODUCTS SUGGESTS POSSIBLE MOLECULAR BASIS OF DIFFERENTIAL PHENOTYPES IN NAIL-PATELLA SYNDROME 122
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 122
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. 122
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 121
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 121
Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA. 120
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 120
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 120
Lactoferrin as a possible transcriptional regulator 120
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 120
ROLE OF THE AUTOIMMUNE REGULATOR (AIRE) GENE IN SYSTEMIC SCLEROSIS ASSOCIATED WITH OTHER AUTOIMMUNE DISEASES 119
REFINEMENT OF THE SPG9 LOCUS ON CHROMOSOME 10Q23.3-24.2 AND EXCLUSION OF CANDIDATE GENES 119
Replication pattern of the pericentromeric region of chromosome 10q and expression of the ret proto-oncogene 119
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 119
Functional analysis of acid-activated Cl- channels: properties and mechanisms of regulation 118
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. 118
Expression variability and function of the RET gene in adult peripheral blood mononuclear cells 118
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation 117
GABP complex regulates transcription of eIF6 (p27BBP), an essential trans-acting factor in ribosome biogenesis 117
A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli 117
Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia 116
5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension. 116
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 116
LOCALISATION OF THE GENE RESPONSIBLE FOR FECHTNER SYNDROME IN A REGION <600 KB ON 22q11-q13 115
NAIL-PATELLA SYNDROME AND RENAL INVOLVEMENT. DESCRIPTION OF THREE CASES AND LITERATURE REVIEW 115
Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines 114
Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism 114
Regulation of TMEM16A chloride channel properties by alternative splicing. 114
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 114
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 114
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 113
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 113
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 112
Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines 111
Non-canonical translation start sites in the TMEM16A chloride channel 111
An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members 111
A minimal isoform of the TMEM16A protein associated with chloride channel activity 111
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 111
Anti-hypertensive dihydropyridines as correctors of the CFTR channel gating defect caused by Cystic Fibrosis mutations 110
MILD FUNCTIONAL EFFECTS OF A NOVEL GFAP MUTANT ALLELE IDENTIFIED IN A FAMILIAL CASE OF ADULT-ONSET ALEXANDER DISEASE 110
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 109
Poland syndrome with bilateral features: case description with review of the literature. 108
The first intron of the human osteopontin gene contains a C/EBP beta responsive enhancer 108
Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension 108
A COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 108
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 108
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 108
Teaching molecular genetics: chapter 4-positional cloning of genetic disorders 108
Involvement of the hypothalamic-pituitary-adrenal axis in children with oligoarticular-onset idiopathic arthritis 107
Unusual Ph translocations in CML: four new cases 106
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 106
New insights into central nervous system involvement in FOP: Case report and review of the literature 106
Electrophoretic pattern of NADPH - dependent oxidoreductive activities in the K562 and HL60 leukemic cell lines 105
Familial Poland anomaly revisited 105
IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma 105
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities 105
cDNA sequence and genomic structure of the rat RET proto-oncogene. 104
Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus 104
Totale 12.444
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Categoria #
all - tutte 57.083
article - articoli 54.051
book - libri 0
conference - conferenze 2.341
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 691
Totale 114.166
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205.021 0 0 0 0 547 689 1.011 418 554 965 587 250
2020/20211.545 93 145 152 133 113 130 70 181 132 187 97 112
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
2024/2025944 62 281 135 226 240 0 0 0 0 0 0 0
Totale 21.696