IRIS
CECCHERINI, ISABELLA
 Distribuzione geografica
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Continente #
EU - Europa 3.343
Totale 3.343
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Nazione #
IT - Italia 3.343
Totale 3.343
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Città #
Genova 1.832
Genoa 546
Vado Ligure 480
Rapallo 462
Bordighera 23
Totale 3.343
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Nome #
CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever 160
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study 154
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation 124
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 115
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 114
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 112
null 111
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 105
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 100
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry 95
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 94
PHOX2B mutations and genetic predisposition to neuroblastoma 93
Ceftriaxone has a therapeutic role in Alexander disease 93
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 89
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 88
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 87
Causative and common PHOX2B variants define a broad phenotypic spectrum 86
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 84
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 84
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease 83
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 82
Clinical and genetic characterization of Italian patients affected by CINCA syndrome 82
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease 81
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 80
Proceedings of the fourth international conference on central hypoventilation 79
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 77
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 74
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 74
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 70
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 61
Early clonal extinction in glioblastoma progression revealed by genetic barcoding 57
Underlying CTLA4 deficiency in a patient with juvenile idiopathic arthritis and autoimmune lymphoproliferative syndrome features successfully treated with abatacept - A case report 55
Tracking glioma progression by genetic barcoding 47
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 44
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD) 44
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 40
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies 35
Erratum: Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers (Rheumatology (2020) 59 (344-60) DOI: 10.1093/rheumatology/kez270) 35
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 31
Patient's dermal fibroblasts as disease markers for visceral myopathy 31
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 30
Targeted ngs yields plentiful ultra-rare variants in inborn errors of immunity patients 29
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 28
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 27
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 20
The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation 19
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core 17
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 16
CREATION OF A STABLE TRANSGENIC LINE FOR ALEXANDER DISEASE MODELING IN ZEBRAFISH 15
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients 14
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 12
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients 4
Totale 3.481
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Categoria #
all - tutte 14.663
article - articoli 14.408
book - libri 0
conference - conferenze 255
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.326
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020663 0 0 0 0 0 111 145 79 94 129 81 24
2020/2021370 19 29 60 30 31 29 19 35 16 46 26 30
2021/2022474 21 17 15 34 31 51 21 94 36 75 26 53
2022/2023552 50 46 10 44 88 82 5 34 100 6 76 11
2023/2024442 30 44 7 48 36 63 31 49 26 22 25 61
2024/2025549 74 75 46 84 143 127 0 0 0 0 0 0
Totale 3.481