IRIS
CECCHERINI, ISABELLA
 Distribuzione geografica
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Continente #
EU - Europa 4.716
AS - Asia 639
NA - Nord America 299
SA - Sud America 79
AF - Africa 19
OC - Oceania 10
Totale 5.762
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Nazione #
IT - Italia 4.613
US - Stati Uniti d'America 282
SG - Singapore 266
CN - Cina 171
VN - Vietnam 122
BR - Brasile 51
FR - Francia 39
HK - Hong Kong 23
AR - Argentina 16
DE - Germania 16
AU - Australia 10
CA - Canada 10
BD - Bangladesh 9
GB - Regno Unito 9
JP - Giappone 9
IN - India 8
ID - Indonesia 7
ZA - Sudafrica 7
EC - Ecuador 5
ES - Italia 5
IQ - Iraq 5
CH - Svizzera 4
FI - Finlandia 4
MX - Messico 4
NL - Olanda 4
PL - Polonia 4
TR - Turchia 4
CO - Colombia 3
HR - Croazia 3
NP - Nepal 3
AT - Austria 2
BE - Belgio 2
DZ - Algeria 2
KE - Kenya 2
MA - Marocco 2
RO - Romania 2
RU - Federazione Russa 2
UZ - Uzbekistan 2
VE - Venezuela 2
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
CL - Cile 1
EG - Egitto 1
ET - Etiopia 1
GR - Grecia 1
HU - Ungheria 1
IE - Irlanda 1
IL - Israele 1
IR - Iran 1
JM - Giamaica 1
JO - Giordania 1
KG - Kirghizistan 1
KR - Corea 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PK - Pakistan 1
PT - Portogallo 1
QA - Qatar 1
RE - Reunion 1
SK - Slovacchia (Repubblica Slovacca) 1
SZ - Regno dello Swaziland 1
TN - Tunisia 1
UA - Ucraina 1
UY - Uruguay 1
Totale 5.762
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Città #
Genova 1.830
Genoa 1.818
Vado Ligure 466
Rapallo 450
San Jose 135
Singapore 127
Ashburn 42
Ho Chi Minh City 38
Lauterbourg 37
Beijing 36
Hanoi 32
Bordighera 23
Hong Kong 23
Council Bluffs 18
Frankfurt am Main 11
Santa Clara 11
New York 10
Tokyo 8
Haiphong 7
Los Angeles 6
Montreal 6
Chennai 5
Johannesburg 5
Rome 5
Amsterdam 4
Belo Horizonte 4
Biên Hòa 4
Buffalo 4
Milan 4
São Paulo 4
Warsaw 4
Basel 3
Helsinki 3
Hải Dương 3
Jakarta 3
Madrid 3
Orem 3
Porto Alegre 3
Quito 3
Zagreb 3
Atlanta 2
Baghdad 2
Brussels 2
Buenos Aires 2
City of London 2
Córdoba 2
Da Nang 2
Guangzhou 2
Guayaquil 2
London 2
Long Xuyen 2
Mexico City 2
Nairobi 2
Nuremberg 2
Phủ Lý 2
Portico di Caserta 2
Rio de Janeiro 2
Tashkent 2
Tezze sul Brenta 2
Toronto 2
Vienna 2
Addis Ababa 1
Algiers 1
Amman 1
Amparo 1
Ankara 1
Aquidabã 1
Araruama 1
Avellaneda 1
Balikpapan 1
Barra Bonita 1
Benin City 1
Birmingham 1
Bishkek 1
Brasília 1
Bratislava 1
Bridgetown 1
Buan-gun 1
Bến Cầu 1
Cabo Frio 1
Cairo 1
Campinas 1
Cape Town 1
Cardiff 1
Changsha 1
Chongqing 1
Cidade Ocidental 1
Curitiba 1
Daido 1
Detroit 1
Doha 1
Dublin 1
Erbil 1
Florence 1
Fürth 1
General Rodríguez 1
Glew 1
Goiânia 1
Governador Valadares 1
Guaratiba 1
Totale 5.285
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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 239
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study 229
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 185
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation 167
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 164
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry 157
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 152
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 145
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 143
Ceftriaxone has a therapeutic role in Alexander disease 142
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 140
Causative and common PHOX2B variants define a broad phenotypic spectrum 135
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 134
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 133
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 130
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 126
Early clonal extinction in glioblastoma progression revealed by genetic barcoding 126
PHOX2B mutations and genetic predisposition to neuroblastoma 121
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 121
Underlying CTLA4 deficiency in a patient with juvenile idiopathic arthritis and autoimmune lymphoproliferative syndrome features successfully treated with abatacept - A case report 121
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 119
Clinical and genetic characterization of Italian patients affected by CINCA syndrome 118
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 115
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 114
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 113
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 111
null 111
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease 110
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease 108
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 108
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies 107
Proceedings of the fourth international conference on central hypoventilation 105
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 104
Patient's dermal fibroblasts as disease markers for visceral myopathy 104
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 102
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 100
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 97
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 97
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 91
CREATION OF A STABLE TRANSGENIC LINE FOR ALEXANDER DISEASE MODELING IN ZEBRAFISH 83
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 81
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 80
Targeted ngs yields plentiful ultra-rare variants in inborn errors of immunity patients 79
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients 78
Tracking glioma progression by genetic barcoding 78
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core 74
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) 72
The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation 66
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients 57
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 54
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 52
Majeed syndrome: first description in a patient of central-European ancestry 4
Totale 5.902
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Categoria #
all - tutte 21.491
article - articoli 20.926
book - libri 0
conference - conferenze 565
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 42.982
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021102 0 0 0 0 0 0 0 0 0 46 26 30
2021/2022471 21 17 15 34 31 51 21 94 36 73 26 52
2022/2023538 48 44 10 41 86 80 5 33 98 6 76 11
2023/2024430 30 42 7 47 34 60 31 49 26 21 24 59
2024/20251.313 73 73 45 84 134 131 161 283 50 40 129 110
2025/20261.686 269 62 97 152 249 148 290 82 155 182 0 0
Totale 5.902