IRIS
CECCHERINI, ISABELLA
 Distribuzione geografica
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Continente #
EU - Europa 4.749
AS - Asia 682
NA - Nord America 618
Continente sconosciuto - Info sul continente non disponibili 142
SA - Sud America 83
AF - Africa 19
OC - Oceania 10
Totale 6.303
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Nazione #
IT - Italia 4.635
US - Stati Uniti d'America 585
SG - Singapore 262
CN - Cina 172
VN - Vietnam 122
BD - Bangladesh 57
BR - Brasile 52
FR - Francia 40
HK - Hong Kong 24
DE - Germania 22
CA - Canada 18
AR - Argentina 17
GB - Regno Unito 11
AU - Australia 10
JP - Giappone 8
IN - India 7
ZA - Sudafrica 7
EC - Ecuador 6
ID - Indonesia 6
CH - Svizzera 5
ES - Italia 5
FI - Finlandia 4
IQ - Iraq 4
MX - Messico 4
NL - Olanda 4
PL - Polonia 4
TR - Turchia 4
CO - Colombia 3
NP - Nepal 3
AT - Austria 2
BE - Belgio 2
CR - Costa Rica 2
DZ - Algeria 2
HR - Croazia 2
JM - Giamaica 2
KE - Kenya 2
MA - Marocco 2
RO - Romania 2
RU - Federazione Russa 2
SV - El Salvador 2
UZ - Uzbekistan 2
VE - Venezuela 2
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BZ - Belize 1
CL - Cile 1
EG - Egitto 1
ET - Etiopia 1
GR - Grecia 1
GT - Guatemala 1
HU - Ungheria 1
IE - Irlanda 1
IL - Israele 1
IR - Iran 1
JO - Giordania 1
KG - Kirghizistan 1
KR - Corea 1
KZ - Kazakistan 1
LT - Lituania 1
NG - Nigeria 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PK - Pakistan 1
PT - Portogallo 1
PY - Paraguay 1
QA - Qatar 1
RE - Reunion 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SZ - Regno dello Swaziland 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
UA - Ucraina 1
UY - Uruguay 1
Totale 6.161
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Città #
Genova 1.830
Genoa 1.805
Vado Ligure 459
Rapallo 450
San Jose 185
Singapore 126
Ashburn 81
Beijing 37
Ho Chi Minh City 37
Lauterbourg 37
Hanoi 32
New York 26
Hong Kong 24
Bordighera 23
Council Bluffs 16
Santa Clara 13
Frankfurt am Main 12
Los Angeles 12
Milan 9
Buffalo 8
Montreal 8
Rome 8
Haiphong 7
Tokyo 7
Chicago 5
Johannesburg 5
London 5
Naples 5
Amsterdam 4
Belo Horizonte 4
Biên Hòa 4
Boardman 4
Chennai 4
Correggio 4
San Francisco 4
São Paulo 4
Toronto 4
Vienna 4
Warsaw 4
Basel 3
Bologna 3
Charlotte 3
Cincinnati 3
Dallas 3
Florence 3
Gräfelfing 3
Helsinki 3
Highland 3
Hải Dương 3
Jakarta 3
Madrid 3
Memphis 3
Orem 3
Philadelphia 3
Porto Alegre 3
Quito 3
The Bronx 3
Washington 3
Angri 2
Asheville 2
Atlanta 2
Augusta 2
Baghdad 2
Birmingham 2
Brussels 2
Buenos Aires 2
City of London 2
Córdoba 2
Da Nang 2
Detroit 2
El Paso 2
Galion 2
Garland 2
Guangzhou 2
Guayaquil 2
Knoxville 2
Lake Providence 2
Long Xuyen 2
Mexico City 2
Miami 2
Minneapolis 2
Munich 2
Nairobi 2
Nuremberg 2
Phoenix 2
Phủ Lý 2
Portico di Caserta 2
Richmond 2
Rio de Janeiro 2
Rochester 2
San José 2
San Salvador 2
Savannah 2
Seattle 2
Secaucus 2
Tashkent 2
Tezze sul Brenta 2
Van Nuys 2
Verona 2
Waukegan 2
Totale 5.457
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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 252
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study 238
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 191
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 174
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation 172
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 166
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry 164
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 154
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 149
Ceftriaxone has a therapeutic role in Alexander disease 148
Causative and common PHOX2B variants define a broad phenotypic spectrum 146
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 143
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 142
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 142
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 141
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 135
Early clonal extinction in glioblastoma progression revealed by genetic barcoding 134
Patient's dermal fibroblasts as disease markers for visceral myopathy 133
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 130
PHOX2B mutations and genetic predisposition to neuroblastoma 130
Underlying CTLA4 deficiency in a patient with juvenile idiopathic arthritis and autoimmune lymphoproliferative syndrome features successfully treated with abatacept - A case report 130
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 128
Clinical and genetic characterization of Italian patients affected by CINCA syndrome 127
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 126
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 125
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 121
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 118
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies 116
Proceedings of the fourth international conference on central hypoventilation 115
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease 114
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease 114
null 111
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 110
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 110
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 109
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 106
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 105
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 103
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 100
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 96
CREATION OF A STABLE TRANSGENIC LINE FOR ALEXANDER DISEASE MODELING IN ZEBRAFISH 91
Targeted ngs yields plentiful ultra-rare variants in inborn errors of immunity patients 89
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients 88
Tracking glioma progression by genetic barcoding 88
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 87
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) 80
The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation 79
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients 70
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 61
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 58
Majeed syndrome: first description in a patient of central-European ancestry 16
Decision Tree Analysis as a Preliminary Evidence‐Based Tool for Identifying the Syndrome of Undifferentiated Recurrent Fever in Children Compared With Hereditary Recurrent Fevers and Periodic Fever, Aphthosis, Pharyngitis, and Adenitis Syndrome 12
Diagnostic workflow for Adenosine Deaminase-2 Deficiency (DADA2): a proposal 8
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly 8
Totale 6.303
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Categoria #
all - tutte 23.320
article - articoli 22.694
book - libri 0
conference - conferenze 626
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.640
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2023/2024423 30 42 6 46 34 60 30 48 25 21 24 57
2024/20251.288 69 72 45 82 133 129 160 279 48 39 125 107
2025/20261.921 261 61 94 148 243 146 282 80 150 188 123 145
2026/2027198 198 0 0 0 0 0 0 0 0 0 0 0
Totale 6.303