IRIS
BOCCIARDI, RENATA
 Distribuzione geografica
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Continente #
EU - Europa 9.212
AS - Asia 1.133
NA - Nord America 972
Continente sconosciuto - Info sul continente non disponibili 200
SA - Sud America 89
AF - Africa 19
Totale 11.625
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Nazione #
IT - Italia 9.033
US - Stati Uniti d'America 902
SG - Singapore 490
CN - Cina 281
VN - Vietnam 176
BD - Bangladesh 99
FR - Francia 74
BR - Brasile 54
CA - Canada 32
HK - Hong Kong 31
DE - Germania 27
MX - Messico 19
AR - Argentina 16
FI - Finlandia 14
NL - Olanda 13
GB - Regno Unito 11
CH - Svizzera 8
CL - Cile 8
JP - Giappone 8
ZA - Sudafrica 8
ID - Indonesia 6
IN - India 6
IQ - Iraq 6
IE - Irlanda 5
PH - Filippine 5
ES - Italia 4
JM - Giamaica 4
SA - Arabia Saudita 4
SK - Slovacchia (Repubblica Slovacca) 4
AL - Albania 3
CO - Colombia 3
CR - Costa Rica 3
LT - Lituania 3
PY - Paraguay 3
BB - Barbados 2
GT - Guatemala 2
HN - Honduras 2
MD - Moldavia 2
MY - Malesia 2
NP - Nepal 2
PK - Pakistan 2
SC - Seychelles 2
SN - Senegal 2
TN - Tunisia 2
TR - Turchia 2
TT - Trinidad e Tobago 2
UZ - Uzbekistan 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AT - Austria 1
BE - Belgio 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
EC - Ecuador 1
GE - Georgia 1
GR - Grecia 1
HR - Croazia 1
IR - Iran 1
JO - Giordania 1
KE - Kenya 1
KR - Corea 1
KZ - Kazakistan 1
MA - Marocco 1
MN - Mongolia 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PL - Polonia 1
PR - Porto Rico 1
RO - Romania 1
RU - Federazione Russa 1
SE - Svezia 1
SI - Slovenia 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
TJ - Tagikistan 1
UA - Ucraina 1
Totale 11.425
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Città #
Genova 5.191
Genoa 2.409
Rapallo 651
Vado Ligure 606
San Jose 252
Singapore 250
Ashburn 78
Lauterbourg 65
Ho Chi Minh City 57
Beijing 46
Council Bluffs 41
New York 39
Hong Kong 31
Hanoi 29
Los Angeles 21
Bordighera 19
Frankfurt am Main 19
Milan 18
Santa Clara 18
Chicago 17
Haiphong 14
Helsinki 14
Buffalo 13
Mexico City 12
Phoenix 12
Rome 12
Tianjin 11
Florence 10
St Louis 10
Montreal 9
Philadelphia 9
Biên Hòa 8
Da Nang 8
Dallas 8
São Paulo 8
Bari 7
Naples 7
Tokyo 7
Zurich 7
Charlotte 6
Toronto 6
Atlanta 5
Houston 5
Nuremberg 5
Orem 5
Pasadena 5
Plymouth 5
Washington 5
Amsterdam 4
Bologna 4
Brooklyn 4
Davenport 4
Dublin 4
Garland 4
Greenville 4
Las Vegas 4
Louisville 4
Memphis 4
Newport News 4
Thái Nguyên 4
Turin 4
Arlington 3
Baghdad 3
Cagliari 3
City of London 3
Cleveland 3
Columbia 3
Des Moines 3
Hải Dương 3
Jacksonville 3
Jeddah 3
Johannesburg 3
Manchester 3
Pittsburgh 3
Posadas 3
Richmond 3
Rochester 3
Albany 2
Asunción 2
Bakersfield 2
Ballwin 2
Baltimore 2
Betim 2
Boardman 2
Bratislava 2
Bridgetown 2
Camden 2
Can Tho 2
Cardiff 2
Cincinnati 2
Dakar 2
Dhaka 2
Elk Grove Village 2
Falconara Marittima 2
Guangzhou 2
Hornell 2
Jamaica Plain 2
Janesville 2
Knoxville 2
Leander 2
Totale 10.236
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Nome #
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 292
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
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 197
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 194
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. 187
C-type natriuretic peptide and overgrowth. 187
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
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 183
Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo. 183
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 182
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis 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
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 177
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 176
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 174
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 171
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 168
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 164
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 163
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 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
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 158
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 157
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
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 154
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 153
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. 153
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 151
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 150
New insights into central nervous system involvement in FOP: Case report and review of the literature 149
LOSS OF FUNCTION EFFECT OF RET MUTATIONS CAUSING HIRSCHSPRUNG DISEASE. 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
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 141
THE PHYSICAL MAP OF THE HUMAN RET PROTO-ONCOGENE. ONCOGENE. 137
Hirschsprung associated GDNF mutations do not prevent RET activation 135
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 135
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion 135
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 132
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 131
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 129
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 129
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. 128
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 126
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 124
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 124
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 123
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 122
One gene: different disorders: the concept of phenotype diversity due to allelic series. 114
Mapping and identification of a candidate gene for Hirschsprung disease:a review 114
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 112
Is there a biological basis for treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential benefits and undesired effects 110
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 110
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 110
Identification of novel anti-fibrotic agents 104
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background 102
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 101
Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men 97
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene 91
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 89
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 89
One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC 89
Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators 87
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. 86
THE ROLE OF THE 3'-UTR REGION IN THE REGULATION OF THE ACVR1 GENE EXPRESSION 82
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 82
Human monocytes express amphiregulin and heregulin growth factors upon activation. 80
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia 79
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 79
Functional analysis of a novel 5’UTR variant of the LMX1B gene associated with a familial case of Nail-Patella Syndrome 77
Un gene per diverse malattie: il concetto di diversità fenotipica dovuto ad una serie di alleli 75
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 74
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 73
Mapping the human genetic architecture of COVID-19 73
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency 68
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 67
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 66
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva 61
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome 60
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 52
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 45
RET activation by germline MEN2A and MEN2B mutations 42
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 39
null 28
Totale 11.625
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Categoria #
all - tutte 37.380
article - articoli 33.014
book - libri 0
conference - conferenze 3.781
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 585
Totale 74.760
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20262.943 327 71 159 195 418 224 458 129 207 317 185 253
2026/2027336 336 0 0 0 0 0 0 0 0 0 0 0
Totale 11.625