CNR Institutional Research Information System

FUSCO, FRANCESCA
 Distribuzione geografica
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Continente #
AS - Asia 1.595
NA - Nord America 988
EU - Europa 407
SA - Sud America 230
AF - Africa 25
OC - Oceania 5
Totale 3.250
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Nazione #
US - Stati Uniti d'America 951
SG - Singapore 692
CN - Cina 360
HK - Hong Kong 174
BR - Brasile 172
VN - Vietnam 140
IT - Italia 135
FR - Francia 104
KR - Corea 71
NL - Olanda 37
IN - India 33
BD - Bangladesh 30
GB - Regno Unito 30
JP - Giappone 24
AR - Argentina 23
DE - Germania 20
FI - Finlandia 18
CA - Canada 14
IL - Israele 11
PL - Polonia 11
ES - Italia 10
ID - Indonesia 10
TR - Turchia 10
MX - Messico 9
VE - Venezuela 8
AT - Austria 7
CO - Colombia 7
EC - Ecuador 7
IQ - Iraq 7
ZA - Sudafrica 7
UA - Ucraina 6
PY - Paraguay 5
TH - Thailandia 5
JO - Giordania 4
KZ - Kazakistan 4
RU - Federazione Russa 4
AL - Albania 3
AU - Australia 3
BB - Barbados 3
CI - Costa d'Avorio 3
EG - Egitto 3
LT - Lituania 3
MA - Marocco 3
SA - Arabia Saudita 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
CZ - Repubblica Ceca 2
GE - Georgia 2
HR - Croazia 2
HU - Ungheria 2
JM - Giamaica 2
KE - Kenya 2
LV - Lettonia 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PA - Panama 2
PE - Perù 2
PH - Filippine 2
RO - Romania 2
RS - Serbia 2
TN - Tunisia 2
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
BO - Bolivia 1
CL - Cile 1
CR - Costa Rica 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
GF - Guiana Francese 1
GM - Gambi 1
HT - Haiti 1
IE - Irlanda 1
KG - Kirghizistan 1
LC - Santa Lucia 1
MD - Moldavia 1
MK - Macedonia 1
MM - Myanmar 1
MY - Malesia 1
NA - Namibia 1
NI - Nicaragua 1
OM - Oman 1
PK - Pakistan 1
PR - Porto Rico 1
PS - Palestinian Territory 1
PT - Portogallo 1
SE - Svezia 1
SI - Slovenia 1
SN - Senegal 1
UG - Uganda 1
UZ - Uzbekistan 1
VG - Isole Vergini Britanniche 1
Totale 3.250
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Città #
Santa Clara 432
Singapore 398
Hong Kong 173
Hefei 171
San Jose 122
Seoul 71
Beijing 69
Lauterbourg 69
Ashburn 64
Ho Chi Minh City 45
Hanoi 38
Los Angeles 31
New York 29
Dallas 19
Naples 17
Tokyo 14
Helsinki 12
Minamishinagawa 10
São Paulo 10
Boardman 9
Frankfurt am Main 9
Orem 9
Buffalo 8
Rio de Janeiro 8
Warsaw 8
Bengaluru 7
Haiphong 7
Belleville 6
Biên Hòa 6
Lappeenranta 6
Marigliano 6
Rome 6
Atlanta 5
Belo Horizonte 5
Chennai 5
Dhaka 5
Hyderabad 5
New Delhi 5
Toronto 5
Amman 4
Amsterdam 4
Asunción 4
Avellino 4
Da Nang 4
Florence 4
Guangzhou 4
Houston 4
Johannesburg 4
Melilli 4
Miami 4
Milan 4
Nuremberg 4
Abidjan 3
Baghdad 3
Bangkok 3
Bexley 3
Bridgetown 3
Campinas 3
Campodoro 3
Caracas 3
Charlotte 3
City of London 3
Córdoba 3
Duque de Caxias 3
Ferrara 3
Fortaleza 3
London 3
Mauá 3
Montevideo 3
Ninh Bình 3
Phoenix 3
Portsmouth 3
Quito 3
Reggio Emilia 3
San Juan 3
Shanghai 3
Sumaré 3
Tirana 3
Vienna 3
Wroclaw 3
Atibaia 2
Bandung 2
Barquisimeto 2
Barranquilla 2
Bogotá 2
Brescia 2
Brisbane 2
Brooklyn 2
Cairo 2
Can Tho 2
Cape Town 2
Carapicuíba 2
Cariacica 2
Casamassima 2
Caserta 2
Chengdu 2
Contagem 2
Dehradun 2
Denver 2
Divinópolis 2
Totale 2.100
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Nome #
EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-KB Pathway Can Cause Immunodeficiency and/or Inflammation 98
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand 95
Incontinentia Pigmenti 94
Common conditions of use elements. Atomic concepts for consistent and effective information governance 83
Silent autoimmunity as risk factor in emerging viral infections: genetic, molecular and cellular factors 81
Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells 76
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide 73
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. 72
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 67
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 62
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection 61
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti 60
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease 57
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male 56
Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? 53
Genotype-phenotype correlation in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. 52
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 52
Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)" 48
Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells 47
L’importanza di fare rete: la collaborazione tra biobanche, associazioni di pazienti, ricercatori e clinici nelle malattie rare 47
A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX 44
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 44
Incontinentia pigmenti: report on data from 2000 to 2013 44
Rare mendelian primary immunodeficiency diseases associated with impaired NF-?B signaling 43
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 42
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 42
Clinical utility gene card: for incontinentia pigmenti 40
Molecular anatomy of the human glucose 6-phosphate dehydrogenase core promoter 40
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti 40
ARX-dependent KDM5C defects are associated to X-linked intellectual disability and epilepsy. 39
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation 38
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 37
Incontinentia pigmenti Genetic Biobank 37
Il fenotipo clinico dei maschi affetti da Incontinentia Pigmenti è causato da alterazioni del pathway di NF-kB come nelle femmine affette da IP? 37
Erythematous eruption with linear vesciculation and eosinophilia at birth. 36
Il gene Nemo tra le cause di disturbi dell'apprendimento 36
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 35
Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti 35
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management 35
Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. 34
A pathologic genomic rearrangement in Incontinentia Pigmenti locus reveals a transcriptional regulation of NEMO gene by p63 family proteins 34
Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease 34
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. 34
Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? 33
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 33
Whole exome sequencing approach to identify modifier genes in severe form of Incontinentia pigmenti 33
Dalla ricerca al femminile un aiuto contro una malattia genetica 33
Deletion of the Overlapping Genes G6pd and Nemo Causes Severe form of Incontinentia Pigmenti Associated to Nervous System Delayed Development and Learning Disability. 32
Unravelling the molecular mechanisms of impaired nemo function in IP pathogenesis 32
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-kappa B/p65 activation during in vitro oocyte maturation and early embryogenesis 32
Nemo: un gene per due malattie 31
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti" 30
Multiple Regulatory Regions and Tissue Specific Transcription Initiation Mediate the Expression of NEMO/IKKg Gene 30
The inter-neuronopathies linked to ARX mutations: The role of Aristaless during ES differentiation into GABAergic neurons. 30
Distal Xq28 region: Analysis of two peculiar cases of Incontinentia Pigmenti (IP) and search for new Genetic Markers. 30
Transcript level of NF-kappa-B inhibitor alpha (IkBa) is regulated during mammalian meiosis. 29
Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. 29
Molecular Genetics of Incontinentia Pigmenti 29
Deletion of the overlapping genes G6PD and NEMO causes severe form of incontinentia pigmenti associated to nervous system delayed development and learning disabilities. 29
Genetic regulation during mammalian oocyte maturation: from the gene to the disease 29
Il controllo epigenetico nelle malattie congenite del sistema nervoso e negli studi sulla mente. 28
Identificazione e caratterizzazione molecolare di una nuova mutazione del gene NEMO associata ad una grave forma di Incontinentia Pigmenti 28
Incontinentia pigmenti caused by NAHR in NEMO locus: a case report. 28
Multiple regullatory regions and tissue-specific transcription initiations mediate the expression of NEMO/IKK gamma gene. 27
Identification of novel mutations in NEMO in a cohort of Incontinentia Pigmenti. 27
The LCR at the IKBKG locus is prone to recombine 27
Regolazione della trascrizione basale del gene umano che codifica per la proteina NEMO. 26
a novel rearrangement associated with Incontinentia pigmenti generated by Fork Stalling and Template Switching (FOSTES)mechanis 26
Recurrent and non-recurrent genomic rearrangements at the IP locus imply high genome plasticity 25
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology 25
Clinical Utility Gene Card for: incontinentia pigmenti. 25
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 25
Screening of mutations in NEMO in a large cohort of Incontinentia Pigmenti patients. 25
A functional link between two XLID/Epilepsy genes ARX And KDM5C defines a crucial epigenetic disease path 24
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population 24
Clinical diagnosis of incontinentia pigmenti in a cohort of male patients 23
Incontinentia Pigmenti: identificazione di nuove mutazioni nel gene NEMO nella popolazione italiana e correlazione genotipo-fenotipo. 22
Unravelling the molecular mechanisms of pathogenesis of Incontinentia pigmenti Mendelian disorder" 22
Identification of traf6-dependent nemo polyubiquitination sites through analysis of a new nemo mutation causing incontinentia pigmenti 22
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation 21
Recurrent and non-recurrent genomic rearrangements in IKBKG locus, causing IP, are generated by different mechanisms and may involve the contigous G6PD gene 21
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti 19
Totale 3.278
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Categoria #
all - tutte 10.289
article - articoli 5.354
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 702
Totale 16.345
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202426 0 0 0 0 0 0 0 0 2 4 13 7
2024/20251.371 17 3 97 54 346 132 12 81 35 40 309 245
2025/20261.881 118 193 153 258 353 50 273 72 83 175 94 59
Totale 3.278