CNR Institutional Research Information System

FUSCO, FRANCESCA
 Distribuzione geografica
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Continente #
AS - Asia 1.624
NA - Nord America 1.355
EU - Europa 450
SA - Sud America 254
Continente sconosciuto - Info sul continente non disponibili 28
AF - Africa 25
OC - Oceania 5
Totale 3.741
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Nazione #
US - Stati Uniti d'America 1.282
SG - Singapore 693
CN - Cina 360
BR - Brasile 184
HK - Hong Kong 174
IT - Italia 170
VN - Vietnam 146
FR - Francia 105
KR - Corea 71
BD - Bangladesh 47
NL - Olanda 38
IN - India 33
GB - Regno Unito 31
CA - Canada 28
JP - Giappone 24
AR - Argentina 23
DE - Germania 20
FI - Finlandia 18
CO - Colombia 14
MX - Messico 13
ID - Indonesia 12
IL - Israele 11
PL - Polonia 11
ES - Italia 10
TR - Turchia 10
VE - Venezuela 10
CR - Costa Rica 8
EC - Ecuador 8
AT - Austria 7
IQ - Iraq 7
ZA - Sudafrica 7
TH - Thailandia 6
UA - Ucraina 6
PY - Paraguay 5
AL - Albania 4
JO - Giordania 4
KZ - Kazakistan 4
RU - Federazione Russa 4
AU - Australia 3
BB - Barbados 3
CI - Costa d'Avorio 3
EG - Egitto 3
JM - Giamaica 3
LT - Lituania 3
MA - Marocco 3
PE - Perù 3
PH - Filippine 3
SA - Arabia Saudita 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
BO - Bolivia 2
BS - Bahamas 2
CZ - Repubblica Ceca 2
GE - Georgia 2
HR - Croazia 2
HU - Ungheria 2
KE - Kenya 2
LC - Santa Lucia 2
LV - Lettonia 2
MD - Moldavia 2
MY - Malesia 2
NI - Nicaragua 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PA - Panama 2
PR - Porto Rico 2
RO - Romania 2
RS - Serbia 2
SE - Svezia 2
TN - Tunisia 2
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
CH - Svizzera 1
CL - Cile 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
GF - Guiana Francese 1
GM - Gambi 1
GT - Guatemala 1
HN - Honduras 1
HT - Haiti 1
IE - Irlanda 1
KG - Kirghizistan 1
MK - Macedonia 1
MM - Myanmar 1
NA - Namibia 1
OM - Oman 1
PK - Pakistan 1
PS - Palestinian Territory 1
PT - Portogallo 1
SI - Slovenia 1
SN - Senegal 1
UG - Uganda 1
UZ - Uzbekistan 1
VG - Isole Vergini Britanniche 1
Totale 3.713
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Città #
Santa Clara 452
Singapore 399
Hong Kong 173
Hefei 171
San Jose 149
Ashburn 95
Seoul 71
Beijing 69
Lauterbourg 69
Ho Chi Minh City 47
Hanoi 39
Los Angeles 35
New York 34
Dallas 22
Naples 18
Tokyo 14
Helsinki 12
São Paulo 11
Atlanta 10
Houston 10
Milan 10
Minamishinagawa 10
Boardman 9
Frankfurt am Main 9
Orem 9
Buffalo 8
Rio de Janeiro 8
Rome 8
San José 8
Toronto 8
Warsaw 8
Belleville 7
Bengaluru 7
Brooklyn 7
Haiphong 7
Miami 7
Philadelphia 7
Biên Hòa 6
Dhaka 6
Lappeenranta 6
Marigliano 6
Montreal 6
Phoenix 6
Belo Horizonte 5
Chennai 5
Da Nang 5
Denver 5
Figino 5
Florence 5
Hyderabad 5
New Delhi 5
Amman 4
Amsterdam 4
Asunción 4
Avellino 4
Bogotá 4
Charlotte 4
Chicago 4
Council Bluffs 4
Duque de Caxias 4
Guangzhou 4
Johannesburg 4
Las Vegas 4
Melilli 4
Mexico City 4
North Charleston 4
Nuremberg 4
Reggio Emilia 4
Tirana 4
Abidjan 3
Baghdad 3
Bangkok 3
Bexley 3
Bridgetown 3
Campinas 3
Campodoro 3
Caracas 3
City of London 3
Córdoba 3
Detroit 3
Ferrara 3
Fortaleza 3
Guarulhos 3
Guayaquil 3
Jackson 3
Kansas City 3
Lima 3
London 3
Louisville 3
Mauá 3
Memphis 3
Middletown 3
Montevideo 3
Ninh Bình 3
Orlando 3
Palermo 3
Portsmouth 3
Praia Grande 3
Quito 3
Reggio Calabria 3
Totale 2.278
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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 112
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand 105
Incontinentia Pigmenti 103
Common conditions of use elements. Atomic concepts for consistent and effective information governance 95
Silent autoimmunity as risk factor in emerging viral infections: genetic, molecular and cellular factors 85
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. 83
Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells 82
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide 81
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 73
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 70
Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? 67
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection 67
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti 65
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease 62
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male 61
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 60
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 59
Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease 57
Genotype-phenotype correlation in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. 53
L’importanza di fare rete: la collaborazione tra biobanche, associazioni di pazienti, ricercatori e clinici nelle malattie rare 52
Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)" 51
Methods to Study the Effect of IKK Inhibition on TNF-Inducing Apoptosis and Necroptosis in Cultured Cells 51
Incontinentia pigmenti: report on data from 2000 to 2013 51
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 50
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 49
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti 49
Rare mendelian primary immunodeficiency diseases associated with impaired NF-?B signaling 48
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 46
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 46
Clinical utility gene card: for incontinentia pigmenti 46
Il fenotipo clinico dei maschi affetti da Incontinentia Pigmenti è causato da alterazioni del pathway di NF-kB come nelle femmine affette da IP? 46
Molecular anatomy of the human glucose 6-phosphate dehydrogenase core promoter 45
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 42
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 42
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 42
ARX-dependent KDM5C defects are associated to X-linked intellectual disability and epilepsy. 42
A pathologic genomic rearrangement in Incontinentia Pigmenti locus reveals a transcriptional regulation of NEMO gene by p63 family proteins 42
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management 42
Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. 40
Incontinentia pigmenti Genetic Biobank 40
Il gene Nemo tra le cause di disturbi dell'apprendimento 40
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males. 40
Whole exome sequencing approach to identify modifier genes in severe form of Incontinentia pigmenti 39
Erythematous eruption with linear vesciculation and eosinophilia at birth. 38
Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti 38
Deletion of the Overlapping Genes G6pd and Nemo Causes Severe form of Incontinentia Pigmenti Associated to Nervous System Delayed Development and Learning Disability. 37
Deletion of the overlapping genes G6PD and NEMO causes severe form of incontinentia pigmenti associated to nervous system delayed development and learning disabilities. 37
Dalla ricerca al femminile un aiuto contro una malattia genetica 37
Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? 36
Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. 36
Nemo: un gene per due malattie 36
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 36
Unravelling the molecular mechanisms of impaired nemo function in IP pathogenesis 34
Transcript level of NF-kappa-B inhibitor alpha (IkBa) is regulated during mammalian meiosis. 34
Il controllo epigenetico nelle malattie congenite del sistema nervoso e negli studi sulla mente. 34
Genetic regulation during mammalian oocyte maturation: from the gene to the disease 34
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti" 33
Multiple Regulatory Regions and Tissue Specific Transcription Initiation Mediate the Expression of NEMO/IKKg Gene 33
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 33
Recurrent and non-recurrent genomic rearrangements at the IP locus imply high genome plasticity 32
Multiple regullatory regions and tissue-specific transcription initiations mediate the expression of NEMO/IKK gamma gene. 32
Molecular Genetics of Incontinentia Pigmenti 32
Distal Xq28 region: Analysis of two peculiar cases of Incontinentia Pigmenti (IP) and search for new Genetic Markers. 32
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology 31
The inter-neuronopathies linked to ARX mutations: The role of Aristaless during ES differentiation into GABAergic neurons. 31
Identificazione e caratterizzazione molecolare di una nuova mutazione del gene NEMO associata ad una grave forma di Incontinentia Pigmenti 31
Incontinentia pigmenti caused by NAHR in NEMO locus: a case report. 31
Identification of novel mutations in NEMO in a cohort of Incontinentia Pigmenti. 31
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population 31
Clinical Utility Gene Card for: incontinentia pigmenti. 29
Screening of mutations in NEMO in a large cohort of Incontinentia Pigmenti patients. 29
Regolazione della trascrizione basale del gene umano che codifica per la proteina NEMO. 28
Identification of traf6-dependent nemo polyubiquitination sites through analysis of a new nemo mutation causing incontinentia pigmenti 28
a novel rearrangement associated with Incontinentia pigmenti generated by Fork Stalling and Template Switching (FOSTES)mechanis 28
The LCR at the IKBKG locus is prone to recombine 28
Clinical diagnosis of incontinentia pigmenti in a cohort of male patients 26
A functional link between two XLID/Epilepsy genes ARX And KDM5C defines a crucial epigenetic disease path 26
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation 25
Incontinentia Pigmenti: identificazione di nuove mutazioni nel gene NEMO nella popolazione italiana e correlazione genotipo-fenotipo. 25
Recurrent and non-recurrent genomic rearrangements in IKBKG locus, causing IP, are generated by different mechanisms and may involve the contigous G6PD gene 24
Unravelling the molecular mechanisms of pathogenesis of Incontinentia pigmenti Mendelian disorder" 24
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti 20
Totale 3.741
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Categoria #
all - tutte 12.409
article - articoli 6.469
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 842
Totale 19.720
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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
2025/20261.908 118 193 153 258 353 50 273 72 83 175 94 86
2026/2027436 149 112 175 0 0 0 0 0 0 0 0 0
Totale 3.741