IRIS
BOCCIARDI, RENATA
 Distribuzione geografica
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Continente #
EU - Europa 9.276
NA - Nord America 1.220
AS - Asia 1.151
Continente sconosciuto - Info sul continente non disponibili 202
SA - Sud America 98
AF - Africa 19
Totale 11.966
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Nazione #
IT - Italia 9.092
US - Stati Uniti d'America 1.129
SG - Singapore 491
CN - Cina 283
VN - Vietnam 176
BD - Bangladesh 107
FR - Francia 74
BR - Brasile 57
CA - Canada 37
HK - Hong Kong 31
DE - Germania 29
MX - Messico 19
AR - Argentina 16
FI - Finlandia 14
NL - Olanda 13
GB - Regno Unito 12
CL - Cile 9
CH - Svizzera 8
ID - Indonesia 8
JP - Giappone 8
ZA - Sudafrica 8
IN - India 7
IQ - Iraq 6
JM - Giamaica 6
PH - Filippine 6
CO - Colombia 5
HN - Honduras 5
IE - Irlanda 5
SA - Arabia Saudita 5
CR - Costa Rica 4
ES - Italia 4
SK - Slovacchia (Repubblica Slovacca) 4
VE - Venezuela 4
AL - Albania 3
BB - Barbados 3
GT - Guatemala 3
LT - Lituania 3
NI - Nicaragua 3
PR - Porto Rico 3
PY - Paraguay 3
TR - Turchia 3
TT - Trinidad e Tobago 3
MD - Moldavia 2
MY - Malesia 2
NP - Nepal 2
PA - Panama 2
PK - Pakistan 2
PL - Polonia 2
SC - Seychelles 2
SN - Senegal 2
SV - El Salvador 2
TH - Thailandia 2
TN - Tunisia 2
UZ - Uzbekistan 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
EE - Estonia 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
LC - Santa Lucia 1
MA - Marocco 1
MN - Mongolia 1
NG - Nigeria 1
OM - Oman 1
PE - Perù 1
RO - Romania 1
RU - Federazione Russa 1
SE - Svezia 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
UA - Ucraina 1
UY - Uruguay 1
Totale 11.764
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Città #
Genova 5.191
Genoa 2.415
Rapallo 651
Vado Ligure 606
San Jose 303
Singapore 251
Ashburn 93
Lauterbourg 65
Ho Chi Minh City 57
New York 47
Beijing 46
Council Bluffs 41
Hong Kong 31
Hanoi 29
Milan 29
Los Angeles 23
Chicago 22
Santa Clara 22
Bordighera 19
Frankfurt am Main 19
Rome 17
Phoenix 15
Buffalo 14
Haiphong 14
Helsinki 14
Dallas 12
Mexico City 12
Florence 11
Tianjin 11
Bari 10
St Louis 10
Montreal 9
Philadelphia 9
Biên Hòa 8
Da Nang 8
São Paulo 8
Toronto 8
Charlotte 7
Naples 7
Tokyo 7
Zurich 7
Brooklyn 6
Houston 6
Louisville 6
Atlanta 5
Bologna 5
Chiavari 5
Dublin 5
Las Vegas 5
Memphis 5
Nuremberg 5
Orem 5
Pasadena 5
Plymouth 5
Washington 5
Amsterdam 4
Arlington 4
Cleveland 4
Davenport 4
Garland 4
Greenville 4
Manchester 4
Newport News 4
Pittsburgh 4
Pozzilli 4
Queens 4
Richmond 4
Thái Nguyên 4
Turin 4
Baghdad 3
Boardman 3
Bridgetown 3
Cagliari 3
Cincinnati 3
City of London 3
Columbia 3
Concord 3
Des Moines 3
Figino 3
Franklin 3
Hải Dương 3
Jacksonville 3
Jeddah 3
Johannesburg 3
Managua 3
Miami 3
Posadas 3
Rochester 3
Salinas 3
San José 3
San Juan 3
Santiago 3
Wilmington 3
Albany 2
Asunción 2
Augusta 2
Bakersfield 2
Ballwin 2
Baltimore 2
Betim 2
Totale 10.393
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Nome #
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 294
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 228
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 219
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 199
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 195
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 191
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. 188
C-type natriuretic peptide and overgrowth. 188
Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo. 188
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 187
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 187
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis 186
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 184
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 184
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 182
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 178
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 177
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 176
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 173
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 171
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 166
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 166
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 165
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 165
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 165
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 160
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 158
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 158
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 157
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 156
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 156
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 155
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 154
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. 154
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 153
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. 153
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 153
New insights into central nervous system involvement in FOP: Case report and review of the literature 150
LOSS OF FUNCTION EFFECT OF RET MUTATIONS CAUSING HIRSCHSPRUNG DISEASE. 150
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 150
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion 140
THE PHYSICAL MAP OF THE HUMAN RET PROTO-ONCOGENE. ONCOGENE. 139
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 139
Hirschsprung associated GDNF mutations do not prevent RET activation 138
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 135
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 133
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 133
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 130
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 130
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 130
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
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 128
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 127
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 125
Mapping and identification of a candidate gene for Hirschsprung disease:a review 117
One gene: different disorders: the concept of phenotype diversity due to allelic series. 116
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 116
Is there a biological basis for treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential benefits and undesired effects 112
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 112
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 111
Identification of novel anti-fibrotic agents 107
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 106
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 100
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 93
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 92
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
Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators 90
One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC 90
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 89
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. 87
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 86
THE ROLE OF THE 3'-UTR REGION IN THE REGULATION OF THE ACVR1 GENE EXPRESSION 85
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 85
Human monocytes express amphiregulin and heregulin growth factors upon activation. 84
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia 82
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 82
Functional analysis of a novel 5’UTR variant of the LMX1B gene associated with a familial case of Nail-Patella Syndrome 81
Un gene per diverse malattie: il concetto di diversità fenotipica dovuto ad una serie di alleli 77
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 76
Mapping the human genetic architecture of COVID-19 75
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency 69
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 68
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva 68
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome 67
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 53
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 51
RET activation by germline MEN2A and MEN2B mutations 43
null 28
Totale 11.966
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Categoria #
all - tutte 39.112
article - articoli 34.575
book - libri 0
conference - conferenze 3.936
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 601
Totale 78.224
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022752 0 0 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
2026/2027677 340 157 180 0 0 0 0 0 0 0 0 0
Totale 11.966