IRIS
BOCCIARDI, RENATA
 Distribuzione geografica
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Continente #
EU - Europa 8.866
AS - Asia 417
SA - Sud America 46
NA - Nord America 32
AF - Africa 8
Totale 9.369
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Nazione #
IT - Italia 8.862
SG - Singapore 186
CN - Cina 110
VN - Vietnam 85
BR - Brasile 25
HK - Hong Kong 21
US - Stati Uniti d'America 19
AR - Argentina 16
MX - Messico 11
ID - Indonesia 6
ZA - Sudafrica 4
CL - Cile 3
SN - Senegal 2
UZ - Uzbekistan 2
BD - Bangladesh 1
CA - Canada 1
DE - Germania 1
DZ - Algeria 1
HR - Croazia 1
IN - India 1
IQ - Iraq 1
IR - Iran 1
NG - Nigeria 1
NL - Olanda 1
NP - Nepal 1
PA - Panama 1
PE - Perù 1
PK - Pakistan 1
PY - Paraguay 1
SI - Slovenia 1
TJ - Tagikistan 1
Totale 9.369
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Città #
Genova 5.191
Genoa 2.385
Rapallo 651
Vado Ligure 606
Singapore 82
Beijing 39
Ho Chi Minh City 25
Hong Kong 21
Bordighera 19
Hanoi 13
Ashburn 12
Haiphong 10
Mexico City 9
Tianjin 9
Biên Hòa 8
Da Nang 5
Thái Nguyên 4
Johannesburg 3
Posadas 3
Dakar 2
Florence 2
Hải Dương 2
Natal 2
São Paulo 2
Trento 2
Victoria 2
Abuja 1
Algiers 1
Amparo 1
Anyang 1
Asunción 1
Baghdad 1
Balneário Camboriú 1
Bandung 1
Boydton 1
Bukhara 1
Bình Dương 1
Bắc Giang 1
Bắc Ninh 1
Can Tho 1
Cao Lanh 1
Carlópolis 1
Carmen de Areco 1
Coatepec Harinas 1
Coronel 1
Cuesta Blanca 1
Córdoba 1
Dalian 1
Dallas 1
Elk Grove Village 1
Formosa 1
General Rodríguez 1
Guaratinguetá 1
Hermosillo 1
Hortolândia 1
Hưng Yên 1
Jaguariúna 1
Jaú 1
Jequié 1
Jizzakh 1
Khujand 1
Lavras 1
Lima 1
Linfen 1
Ljubljana 1
Los Angeles 1
Milan 1
Monte Grande 1
Montreal 1
Morón 1
New York 1
Ningbo 1
Ninh Bình 1
Nuremberg 1
Ourinhos 1
Panama City 1
Passos 1
Peruíbe 1
Phủ Lý 1
Piracicaba 1
Providence 1
Quillota 1
Ramos Mejía 1
Randfontein 1
Rawalpindi 1
Recife 1
Resistencia 1
Ribeirão Preto 1
Rio de Janeiro 1
Rome 1
San Antonio 1
San Javier 1
Santiago 1
Shanghai 1
Shenzhen 1
Sumaré 1
São João de Meriti 1
São João do Piauí 1
Taiyuan 1
Torres 1
Totale 9.183
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Nome #
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 263
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 194
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 194
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. 173
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 171
C-type natriuretic peptide and overgrowth. 170
Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo. 169
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis 166
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 166
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 166
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 162
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 161
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 160
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 159
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 159
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 156
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 155
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 153
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 152
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 152
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 151
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 149
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 149
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 141
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 140
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. 140
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 139
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 138
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 137
LOSS OF FUNCTION EFFECT OF RET MUTATIONS CAUSING HIRSCHSPRUNG DISEASE. 136
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 134
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 133
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 132
New insights into central nervous system involvement in FOP: Case report and review of the literature 130
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. 130
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 130
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 129
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 123
THE PHYSICAL MAP OF THE HUMAN RET PROTO-ONCOGENE. ONCOGENE. 120
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 120
Hirschsprung associated GDNF mutations do not prevent RET activation 117
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. 116
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 116
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 114
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 113
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion 111
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 106
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 106
Is there a biological basis for treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential benefits and undesired effects 100
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 100
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 98
One gene: different disorders: the concept of phenotype diversity due to allelic series. 97
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 96
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 92
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 90
Mapping and identification of a candidate gene for Hirschsprung disease:a review 90
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 87
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 85
Identification of novel anti-fibrotic agents 83
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 83
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background 80
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 79
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene 76
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 76
One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC 75
Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men 72
THE ROLE OF THE 3'-UTR REGION IN THE REGULATION OF THE ACVR1 GENE EXPRESSION 68
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 68
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. 68
Human monocytes express amphiregulin and heregulin growth factors upon activation. 65
Un gene per diverse malattie: il concetto di diversità fenotipica dovuto ad una serie di alleli 61
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 59
Functional analysis of a novel 5’UTR variant of the LMX1B gene associated with a familial case of Nail-Patella Syndrome 58
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia 57
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 56
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 54
Mapping the human genetic architecture of COVID-19 49
Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators 45
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva 43
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 39
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 36
null 28
RET activation by germline MEN2A and MEN2B mutations 25
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 22
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT) 20
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome 19
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications 18
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 13
Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency 12
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 7
Totale 9.550
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Categoria #
all - tutte 31.780
article - articoli 28.024
book - libri 0
conference - conferenze 3.227
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 529
Totale 63.560
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021365 0 0 0 0 0 84 32 46 54 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
2025/20261.204 327 71 159 195 418 34 0 0 0 0 0 0
Totale 9.550