CNR Institutional Research Information System

STEFANINI, MIRIA
 Distribuzione geografica
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Continente #
AS - Asia 4.653
NA - Nord America 2.564
SA - Sud America 1.068
EU - Europa 684
AF - Africa 86
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 2
Totale 9.066
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Nazione #
US - Stati Uniti d'America 2.442
SG - Singapore 2.075
CN - Cina 940
BR - Brasile 864
VN - Vietnam 523
HK - Hong Kong 460
FR - Francia 272
KR - Corea 185
JP - Giappone 144
IT - Italia 110
AR - Argentina 83
IN - India 77
GB - Regno Unito 57
DE - Germania 54
BD - Bangladesh 51
CA - Canada 50
NL - Olanda 41
EC - Ecuador 32
IL - Israele 32
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
CL - Cile 12
PK - Pakistan 12
UZ - Uzbekistan 12
JM - Giamaica 11
SA - Arabia Saudita 11
EG - Egitto 10
MY - Malesia 10
UY - Uruguay 10
AT - Austria 9
KE - Kenya 9
SE - Svezia 9
AZ - Azerbaigian 8
CR - Costa Rica 8
PL - Polonia 8
AU - Australia 7
BE - Belgio 7
NP - Nepal 7
KZ - Kazakistan 6
DO - Repubblica Dominicana 5
GT - Guatemala 5
LT - Lituania 5
PE - Perù 5
AE - Emirati Arabi Uniti 4
BO - Bolivia 4
HN - Honduras 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
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
SV - El Salvador 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
CU - Cuba 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
Totale 9.055
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Città #
Singapore 1.229
Santa Clara 1.189
Hefei 458
Hong Kong 450
Lauterbourg 251
San Jose 227
Ho Chi Minh City 182
Seoul 182
Ashburn 151
Hanoi 130
Tokyo 114
Beijing 96
Dallas 91
Los Angeles 77
São Paulo 62
New York 50
Buffalo 28
Rio de Janeiro 26
Haiphong 25
Minamishinagawa 25
Frankfurt am Main 23
Bengaluru 19
Helsinki 19
Toronto 19
Da Nang 17
Brasília 15
Rome 15
Biên Hòa 13
Milan 13
Brooklyn 12
Dublin 11
Houston 11
Johannesburg 11
London 11
Tashkent 11
Chennai 10
Council Bluffs 10
Curitiba 10
Goiânia 10
Guangzhou 10
Phoenix 10
Belo Horizonte 9
Düsseldorf 9
Mumbai 9
Porto Alegre 9
Uberlândia 9
Asunción 8
Baku 8
Bắc Ninh 8
Campinas 8
Caracas 8
Hải Dương 8
Montevideo 8
Ninh Bình 8
Orem 8
Bogotá 7
Cape Town 7
Chicago 7
Cremona 7
Florence 7
Guarulhos 7
Guayaquil 7
Montreal 7
Nuremberg 7
Pavia 7
Quito 7
The Dalles 7
Boston 6
Cabo Frio 6
Campina Grande 6
Changsha 6
Colombo 6
Kingston 6
Kuala Lumpur 6
Nairobi 6
Osasco 6
Phủ Lý 6
San José 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
Fortaleza 5
Guatemala City 5
Itaquaquecetuba 5
Jakarta 5
Las Vegas 5
Maceió 5
Medellín 5
Totale 5.707
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Nome #
Extracellular matrix defects in trichothiodystrophy 116
From laboratory tests to functional characterisation of Cockayne syndrome 115
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack 114
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 101
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network 98
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 94
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 93
Multifaceted involvement of the CSA protein in the removal of DNA damage 90
Does CSA play a role in mitochondrial quality control? 90
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 89
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 88
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome 78
Pathogenomics of hereditary disorders defective in DNA repair and transcription 75
Mitochondrial dysfunction and oxidative stress play a causal role in the metabolic impairment observed in primary fibroblasts from Cockayne syndrome patients 74
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
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 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 66
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 59
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 59
Analisi dei domini funzionali di CSA 58
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 58
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin 58
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 58
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 58
TRICHOTHIODYSTROPHY A HUMAN DNA REPAIR DISORDER WITH HETEROGENEITY IN THE CELLULAR RESPONSE TO UV LIGHT 57
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 57
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. 56
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 55
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
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 54
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 53
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions 50
The role of mitochondrial dysfunction in Cockayne Syndrome 50
Multifaceted involvement of the CSA protein in the removal of DNA damage. 50
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 47
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 47
Trichothiodystrophy: new patients with unexpected genotype-phenotype relationships 46
Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents. 46
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. 46
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 45
Multifaceted involvement of the CSA protein in the removal of DNA damage. 45
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 44
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 44
Structure-function analysis of the CSA gene. 44
New patient material 43
The role of CSA in the response to oxidative DNA damage in human cells. 43
Does CSA play a role in mitochondrial quality control? 43
Neurocutaneous Diseases 42
Rac3-induced neuritogenesis requires binding to Neurabin I. 42
Functional alterations in trichothiodystrophy: Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts 41
VARIATIONS OF POLY-ADP-RIBOSE POLYMERASE IN DIFFERENT CELL SYSTEMS 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
Fate of the repair/transcription complex TFIIH in human mitotic cells. 39
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 39
Trichothiodystrophy: From basic mechanisms to clinical implications. 38
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 38
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 38
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 37
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 37
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 37
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 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
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 36
TFIIH-mutated cells as a model system to dissect the multiple roles of TFIIH in chromatin dynamics 36
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 36
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 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 35
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 35
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 34
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 34
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 34
Transcriptional alterations in trichotiodystrophy affect different components of the extracellular matrix 34
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 34
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 34
Xeroderma pigmentosum 33
I sistemi di riparazione del DNA 33
Xeroderma pigmentosum 32
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 32
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. 32
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 32
Avanzamenti diagnostici nelle malattie ereditarie della cute 31
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 31
Micro-array analysis in trichothiodystrophy. 31
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene 31
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 31
The XPD gene: one gene, two functions, three (or more) diseases. 31
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 31
L approccio dei microarray per lo studio dei difetti trascrizionali nella tricotiodistrofia. 31
A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma 31
Xeroderma pigmentosum, sindrome di Cockayne, tricotiodistrofia: caratterizzazione del difetto presente nei pazienti a livello cellulare, genetico e molecolare. 30
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 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
Totale 5.050
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Categoria #
all - tutte 32.329
article - articoli 12.972
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.104
Totale 46.405
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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
2025/20265.188 232 772 510 798 948 124 721 306 312 225 153 87
2026/2027201 201 0 0 0 0 0 0 0 0 0 0 0
Totale 9.085