IRIS
BOCCIARDI, RENATA
 Distribuzione geografica
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Continente #
EU - Europa 6.591
Totale 6.591
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Nazione #
IT - Italia 6.591
Totale 6.591
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Città #
Genova 5.191
Genoa 729
Rapallo 651
Bordighera 19
Vado Ligure 1
Totale 6.591
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Nome #
The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva 150
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation 145
Neural crest neuroblasts can colonise aganglionic and ganglionic gut in vivo. 144
Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. 141
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 141
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 138
Exon structure and flanking intronic sequences of the human RET proto-oncogene. 134
C-type natriuretic peptide and overgrowth. 134
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis 134
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva. 133
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 133
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva 128
The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice 127
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 125
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 125
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. 123
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements 122
The Role of the 3′UTR Region in the Regulation of the ACVR1/Alk-2 Gene Expression 121
The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis. 120
STUDY OF THE ACVR1 GENE EXPRESSION AND REGULATION: THE PROMOTER REGION AND THE 5'-UTR 118
LOSS OF FUNCTION EFFECT OF RET MUTATIONS CAUSING HIRSCHSPRUNG DISEASE. 116
Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d'un cas de diagnostic tardif 116
EEC- and ADULT-AssociatedTP63Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences 114
Cytogenetic damage induced in human lymphocytes by four vanadium compounds and micronucleus analysis by fluorescence in situ hybridization with a centromeric probe. 114
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. 114
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 113
Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation 111
Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva 108
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations 107
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva 106
Betaine, dimethyl sulfoxide, and 7-deaza-dGTP, a powerful mixture for amplification of GC-rich DNA sequences. 103
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 102
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 102
New insights into central nervous system involvement in FOP: Case report and review of the literature 101
Hirschsprung associated GDNF mutations do not prevent RET activation 99
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. 98
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease 98
Frequency of RET mutations in long- and short-segment Hirschsprung disease. 96
Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation 96
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. 94
Peripheral blood mononuclear cell immunophenotyping in fibrodysplasia ossificans progressiva patients: Evidence for monocyte DNAM1 up-regulation 94
THE PHYSICAL MAP OF THE HUMAN RET PROTO-ONCOGENE. ONCOGENE. 92
Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva 92
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 90
Is there a biological basis for treatment of Fibrodysplasia Ossificans Progressiva with Rosiglitazone? Potential benefits and undesired effects 89
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 85
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage Depletion 82
High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva. 80
One gene: different disorders: the concept of phenotype diversity due to allelic series. 77
Mapping and identification of a candidate gene for Hirschsprung disease:a review 75
Condition for SSCP analysis, common polymorphisms and mutations of the RET protooncogene in Hirschsprung patients. 73
Detection of RET mutations in higher among long segment than short segment Hirschsprung patients. 69
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. 66
One gene-different disorders:structure,orientation,genomic map and mutations of RET which cause Hirschsprung disease as well as MEN2B, and FMTC 62
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene 57
Human monocytes express amphiregulin and heregulin growth factors upon activation. 50
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 49
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. 49
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development 48
THE ROLE OF THE 3'-UTR REGION IN THE REGULATION OF THE ACVR1 GENE EXPRESSION 47
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 46
Un gene per diverse malattie: il concetto di diversità fenotipica dovuto ad una serie di alleli 45
Identification of novel anti-fibrotic agents 44
Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men 44
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 38
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene 38
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 38
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 36
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients 33
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 33
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 30
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop 27
Functional analysis of a novel 5’UTR variant of the LMX1B gene associated with a familial case of Nail-Patella Syndrome 25
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia 24
Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva 22
Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background 21
Mapping the human genetic architecture of COVID-19 17
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia 10
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators 7
RET activation by germline MEN2A and MEN2B mutations 5
Totale 6.753
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Categoria #
all - tutte 19.449
article - articoli 17.231
book - libri 0
conference - conferenze 1.832
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 386
Totale 38.898
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.954 82 53 82 152 196 215 280 151 186 295 183 79
2020/2021610 30 67 51 50 47 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
2024/20258 8 0 0 0 0 0 0 0 0 0 0 0
Totale 6.753