IRIS
BOCCIARDI, RENATA
 Distribuzione geografica
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Continente #
EU - Europa 9.110
AS - Asia 1.024
NA - Nord America 416
SA - Sud America 79
AF - Africa 16
Totale 10.645
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Nazione #
IT - Italia 8.946
SG - Singapore 487
US - Stati Uniti d'America 385
CN - Cina 274
VN - Vietnam 174
FR - Francia 70
BR - Brasile 48
HK - Hong Kong 31
DE - Germania 27
AR - Argentina 16
MX - Messico 15
FI - Finlandia 14
CA - Canada 13
GB - Regno Unito 11
JP - Giappone 8
NL - Olanda 8
ZA - Sudafrica 8
CH - Svizzera 7
CL - Cile 7
BD - Bangladesh 6
ID - Indonesia 6
IQ - Iraq 6
IE - Irlanda 5
IN - India 5
ES - Italia 4
PH - Filippine 4
SA - Arabia Saudita 4
AL - Albania 3
PY - Paraguay 3
SK - Slovacchia (Repubblica Slovacca) 3
CO - Colombia 2
LT - Lituania 2
MY - Malesia 2
NP - Nepal 2
SN - Senegal 2
TR - Turchia 2
UZ - Uzbekistan 2
AT - Austria 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
GE - Georgia 1
GT - Guatemala 1
HR - Croazia 1
IR - Iran 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KR - Corea 1
KZ - Kazakistan 1
MA - Marocco 1
MD - Moldavia 1
MN - Mongolia 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PK - Pakistan 1
PL - Polonia 1
RO - Romania 1
RU - Federazione Russa 1
SE - Svezia 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TJ - Tagikistan 1
TN - Tunisia 1
UA - Ucraina 1
VE - Venezuela 1
Totale 10.645
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Città #
Genova 5.191
Genoa 2.404
Rapallo 651
Vado Ligure 606
Singapore 248
San Jose 149
Lauterbourg 65
Ho Chi Minh City 57
Beijing 44
Council Bluffs 41
Ashburn 40
Hong Kong 31
Hanoi 27
New York 24
Bordighera 19
Frankfurt am Main 19
Haiphong 14
Helsinki 14
Santa Clara 11
Tianjin 11
Mexico City 10
St Louis 10
Milan 9
Biên Hòa 8
Da Nang 8
Los Angeles 8
São Paulo 8
Bari 7
Chicago 7
Montreal 7
Tokyo 7
Zurich 7
Florence 6
Naples 5
Nuremberg 5
Amsterdam 4
Bologna 4
Dublin 4
Thái Nguyên 4
Baghdad 3
Buffalo 3
City of London 3
Des Moines 3
Hải Dương 3
Jeddah 3
Johannesburg 3
Manchester 3
Orem 3
Posadas 3
Toronto 3
Turin 3
Asunción 2
Atlanta 2
Betim 2
Bratislava 2
Can Tho 2
Cardiff 2
Dakar 2
Dhaka 2
Guangzhou 2
Jamaica Plain 2
Madrid 2
Mosul 2
Natal 2
Nice 2
Pasadena 2
Petaling Jaya 2
Potenza 2
Pretoria 2
Rome 2
Santiago 2
Shanghai 2
Tirana 2
Trento 2
Victoria 2
Wuhan 2
Wuxi 2
Abha 1
Abidjan 1
Abuja 1
Acalanes Ridge 1
Adapazarı 1
Algiers 1
Almaty 1
Alpinópolis 1
Amparo 1
Angeles City 1
Anyang 1
Arlington 1
Azzano San Paolo 1
Balneário Camboriú 1
Bandung 1
Baqubah 1
Basingstoke 1
Bedizzole 1
Belo Horizonte 1
Boston 1
Boydton 1
Brooklyn 1
Bukhara 1
Totale 9.905
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Nome #
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 286
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 211
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 211
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 187
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 186
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. 179
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 179
C-type natriuretic peptide and overgrowth. 178
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis 178
Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo. 178
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 176
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 174
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 174
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 173
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 171
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 168
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 168
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 165
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 165
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 160
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 160
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 159
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 156
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 155
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 154
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 152
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 152
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 149
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 148
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. 148
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 147
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 147
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 146
LOSS OF FUNCTION EFFECT OF RET MUTATIONS CAUSING HIRSCHSPRUNG DISEASE. 145
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 144
New insights into central nervous system involvement in FOP: Case report and review of the literature 143
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. 140
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 140
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs 134
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion 131
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 130
THE PHYSICAL MAP OF THE HUMAN RET PROTO-ONCOGENE. ONCOGENE. 129
Hirschsprung associated GDNF mutations do not prevent RET activation 128
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 126
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 125
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 124
The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck. 124
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 123
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 116
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 116
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 114
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 113
One gene: different disorders: the concept of phenotype diversity due to allelic series. 111
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 109
Is there a biological basis for treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential benefits and undesired effects 109
Mapping and identification of a candidate gene for Hirschsprung disease:a review 107
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 106
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 104
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 102
Identification of novel anti-fibrotic agents 95
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background 95
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 94
Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men 89
Evaluating the influence of a g-quadruplex prone sequence on the transactivation potential by wild-type and/or mutant p53 family proteins through a yeast-based functional assay 87
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 86
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene 85
One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC 84
THE ROLE OF THE 3'-UTR REGION IN THE REGULATION OF THE ACVR1 GENE EXPRESSION 79
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 77
Glial cell line-derived neurotrophic factor-stimulated phosphatidylinositol 3-kinase and Akt activities exert opposing effects on the ERK pathway: importance for the rescue of neuroectodermic cells. 76
Human monocytes express amphiregulin and heregulin growth factors upon activation. 75
Un gene per diverse malattie: il concetto di diversità fenotipica dovuto ad una serie di alleli 73
Functional analysis of a novel 5’UTR variant of the LMX1B gene associated with a familial case of Nail-Patella Syndrome 71
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia 69
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 68
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 67
Mapping the human genetic architecture of COVID-19 63
Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators 61
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 56
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva 56
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 49
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome 47
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 46
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 46
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 45
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency 40
RET activation by germline MEN2A and MEN2B mutations 36
null 28
In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators 27
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 27
Totale 10.830
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Categoria #
all - tutte 33.806
article - articoli 29.813
book - libri 0
conference - conferenze 3.449
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 544
Totale 67.612
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021149 0 0 0 0 0 0 0 0 0 64 45 40
2021/2022879 44 83 65 70 25 51 56 193 46 78 63 105
2022/2023825 88 64 5 87 120 130 7 54 131 11 106 22
2023/2024582 39 56 8 65 44 92 34 29 30 39 41 105
2024/20251.601 26 108 41 90 239 174 190 283 92 67 135 156
2025/20262.484 327 71 159 195 418 224 458 129 207 296 0 0
Totale 10.830