CNR Institutional Research Information System

STEFANINI, MIRIA
 Distribuzione geografica
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Continente #
AS - Asia 4.627
NA - Nord America 2.302
SA - Sud America 1.064
EU - Europa 652
AF - Africa 86
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 2
Totale 8.742
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Nazione #
US - Stati Uniti d'America 2.203
SG - Singapore 2.074
CN - Cina 939
BR - Brasile 863
VN - Vietnam 519
HK - Hong Kong 460
FR - Francia 271
KR - Corea 185
JP - Giappone 144
AR - Argentina 82
IT - Italia 80
IN - India 77
GB - Regno Unito 57
DE - Germania 54
CA - Canada 41
NL - Olanda 41
BD - Bangladesh 34
IL - Israele 32
EC - Ecuador 31
ID - Indonesia 29
MX - Messico 27
MA - Marocco 25
ZA - Sudafrica 25
CO - Colombia 23
FI - Finlandia 21
IQ - Iraq 21
RU - Federazione Russa 21
VE - Venezuela 20
PY - Paraguay 15
IE - Irlanda 14
TR - Turchia 14
UA - Ucraina 14
ES - Italia 13
PK - Pakistan 12
UZ - Uzbekistan 12
CL - Cile 11
SA - Arabia Saudita 11
EG - Egitto 10
UY - Uruguay 10
AT - Austria 9
KE - Kenya 9
SE - Svezia 9
AZ - Azerbaigian 8
MY - Malesia 8
AU - Australia 7
BE - Belgio 7
PL - Polonia 7
JM - Giamaica 6
KZ - Kazakistan 6
NP - Nepal 6
CR - Costa Rica 5
DO - Repubblica Dominicana 5
LT - Lituania 5
PE - Perù 5
AE - Emirati Arabi Uniti 4
BO - Bolivia 4
GT - Guatemala 4
MD - Moldavia 4
OM - Oman 4
TN - Tunisia 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
BB - Barbados 3
CH - Svizzera 3
DZ - Algeria 3
HN - Honduras 3
JO - Giordania 3
LK - Sri Lanka 3
PH - Filippine 3
PT - Portogallo 3
TH - Thailandia 3
BG - Bulgaria 2
BJ - Benin 2
GR - Grecia 2
HU - Ungheria 2
IR - Iran 2
KW - Kuwait 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
PA - Panama 2
SY - Repubblica araba siriana 2
XK - ???statistics.table.value.countryCode.XK??? 2
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BY - Bielorussia 1
BZ - Belize 1
CG - Congo 1
CI - Costa d'Avorio 1
CY - Cipro 1
EE - Estonia 1
ET - Etiopia 1
HR - Croazia 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LC - Santa Lucia 1
LV - Lettonia 1
LY - Libia 1
MM - Myanmar 1
Totale 8.734
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Città #
Singapore 1.229
Santa Clara 1.185
Hefei 458
Hong Kong 450
Lauterbourg 251
San Jose 205
Seoul 182
Ho Chi Minh City 180
Hanoi 130
Tokyo 114
Ashburn 113
Beijing 95
Dallas 88
Los Angeles 75
São Paulo 62
New York 49
Buffalo 27
Rio de Janeiro 26
Haiphong 25
Minamishinagawa 25
Frankfurt am Main 23
Bengaluru 19
Helsinki 19
Da Nang 17
Toronto 17
Brasília 15
Biên Hòa 13
Dublin 11
Johannesburg 11
London 11
Tashkent 11
Chennai 10
Council Bluffs 10
Curitiba 10
Goiânia 10
Guangzhou 10
Milan 10
Belo Horizonte 9
Düsseldorf 9
Mumbai 9
Porto Alegre 9
Rome 9
Uberlândia 9
Asunción 8
Baku 8
Bắc Ninh 8
Caracas 8
Hải Dương 8
Montevideo 8
Ninh Bình 8
Orem 8
Bogotá 7
Campinas 7
Cape Town 7
Chicago 7
Guarulhos 7
Guayaquil 7
Nuremberg 7
Pavia 7
Phoenix 7
Quito 7
Boston 6
Cabo Frio 6
Campina Grande 6
Changsha 6
Colombo 6
Montreal 6
Nairobi 6
Osasco 6
Phủ Lý 6
Santiago 6
Santo André 6
Stockholm 6
São José do Rio Preto 6
Thái Nguyên 6
Vienna 6
Volta Redonda 6
Agadir 5
Aracaju 5
Brussels 5
Buenos Aires 5
Canoas 5
Chongqing 5
Delhi 5
Dhaka 5
Florence 5
Fortaleza 5
Houston 5
Itaquaquecetuba 5
Jakarta 5
Kuala Lumpur 5
Maceió 5
Medellín 5
Mexico City 5
Nha Trang 5
Nova Iguaçu 5
Piracicaba 5
Portsmouth 5
Quận Bình Thạnh 5
Rio das Ostras 5
Totale 5.595
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Nome #
Extracellular matrix defects in trichothiodystrophy 114
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack 113
From laboratory tests to functional characterisation of Cockayne syndrome 110
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 100
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network 97
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 90
Multifaceted involvement of the CSA protein in the removal of DNA damage 89
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 89
Does CSA play a role in mitochondrial quality control? 88
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 88
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 83
Pathogenomics of hereditary disorders defective in DNA repair and transcription 74
Mitochondrial dysfunction and oxidative stress play a causal role in the metabolic impairment observed in primary fibroblasts from Cockayne syndrome patients 74
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome 73
Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts from patients with trichothiodystrophy. 70
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity 70
Malattie genetiche rare che predispongono ai tumori 69
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 67
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 66
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 64
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 63
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin 57
Analisi dei domini funzionali di CSA 56
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 56
Riparazione del DNA e Malattie ereditarie 55
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia 55
TRICHOTHIODYSTROPHY A HUMAN DNA REPAIR DISORDER WITH HETEROGENEITY IN THE CELLULAR RESPONSE TO UV LIGHT 54
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 54
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 54
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 53
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 53
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 51
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 51
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. 50
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 50
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 49
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions 48
The role of mitochondrial dysfunction in Cockayne Syndrome 48
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 47
Trichothiodystrophy: new patients with unexpected genotype-phenotype relationships 46
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. 46
Multifaceted involvement of the CSA protein in the removal of DNA damage. 46
Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents. 45
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 45
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 44
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 44
Multifaceted involvement of the CSA protein in the removal of DNA damage. 43
New patient material 42
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 42
Structure-function analysis of the CSA gene. 42
Does CSA play a role in mitochondrial quality control? 41
Neurocutaneous Diseases 41
VARIATIONS OF POLY-ADP-RIBOSE POLYMERASE IN DIFFERENT CELL SYSTEMS 40
Functional alterations in trichothiodystrophy: Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts 40
TTD transcriptional defects are responsible for extracellular matrix alterations 40
CSA protein and oxidative DNA damage repair. 40
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. 40
Rac3-induced neuritogenesis requires binding to Neurabin I. 39
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 38
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 37
Fate of the repair/transcription complex TFIIH in human mitotic cells. 37
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 36
From clinical features to molecular defects: lack of clear genotype-phenotype relationships in Cockayne syndrome. 36
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 36
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 36
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 35
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 35
Trichothiodystrophy: From basic mechanisms to clinical implications. 35
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 35
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 35
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity 34
Transcriptional alterations in trichotiodystrophy affect different components of the extracellular matrix 34
TFIIH-mutated cells as a model system to dissect the multiple roles of TFIIH in chromatin dynamics 34
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 34
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 33
Xeroderma pigmentosum 32
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 32
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 32
The role of CSA in the response to oxidative DNA damage in human cells. 32
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 32
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 32
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 32
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 32
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 32
I sistemi di riparazione del DNA 32
Avanzamenti diagnostici nelle malattie ereditarie della cute 31
Micro-array analysis in trichothiodystrophy. 31
Xeroderma pigmentosum 31
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 30
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 30
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 30
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product 30
Alteration of oxidative and energy metabolism characterize Cockayne syndrome primary fibroblasts 30
Xeroderma pigmentosum 30
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 29
The role of Cockayne syndrome proteins in the repair of endogenous DNA damage. 29
Analysis of the functional domains of the CSA protein 29
Aspetti clinici e molecolari della tricotiodistrofia 29
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 29
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. 29
Totale 4.865
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Categoria #
all - tutte 29.296
article - articoli 11.623
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.006
Totale 41.925
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202412 0 0 0 0 0 0 0 0 6 0 4 2
2024/20253.684 8 16 259 163 1.026 206 10 134 81 73 923 785
2025/20265.065 232 772 510 798 948 124 721 306 312 225 117 0
Totale 8.761