CNR Institutional Research Information System

STEFANINI, MIRIA
 Distribuzione geografica
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Continente #
AS - Asia 4.711
NA - Nord America 3.300
SA - Sud America 1.129
EU - Europa 766
AF - Africa 93
Continente sconosciuto - Info sul continente non disponibili 21
OC - Oceania 9
Totale 10.029
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Nazione #
US - Stati Uniti d'America 3.135
SG - Singapore 2.080
CN - Cina 941
BR - Brasile 886
VN - Vietnam 531
HK - Hong Kong 461
FR - Francia 279
KR - Corea 185
IT - Italia 170
JP - Giappone 144
AR - Argentina 83
IN - India 77
CA - Canada 73
BD - Bangladesh 65
GB - Regno Unito 64
DE - Germania 55
CO - Colombia 45
EC - Ecuador 43
NL - Olanda 41
ID - Indonesia 37
MX - Messico 33
IL - Israele 32
ZA - Sudafrica 27
VE - Venezuela 26
MA - Marocco 25
FI - Finlandia 21
IQ - Iraq 21
RU - Federazione Russa 21
ES - Italia 18
TR - Turchia 16
PY - Paraguay 15
UA - Ucraina 15
IE - Irlanda 14
MY - Malesia 14
CR - Costa Rica 13
CL - Cile 12
JM - Giamaica 12
PK - Pakistan 12
UZ - Uzbekistan 12
SA - Arabia Saudita 11
EG - Egitto 10
KE - Kenya 10
UY - Uruguay 10
AT - Austria 9
SE - Svezia 9
AZ - Azerbaigian 8
NP - Nepal 8
PL - Polonia 8
TH - Thailandia 8
AU - Australia 7
BE - Belgio 7
HN - Honduras 7
PH - Filippine 7
KZ - Kazakistan 6
AE - Emirati Arabi Uniti 5
DO - Repubblica Dominicana 5
GT - Guatemala 5
LT - Lituania 5
PE - Perù 5
BB - Barbados 4
BO - Bolivia 4
CH - Svizzera 4
JO - Giordania 4
MD - Moldavia 4
OM - Oman 4
PA - Panama 4
TN - Tunisia 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
DZ - Algeria 3
LK - Sri Lanka 3
LY - Libia 3
PT - Portogallo 3
SV - El Salvador 3
AM - Armenia 2
BG - Bulgaria 2
BJ - Benin 2
CI - Costa d'Avorio 2
GR - Grecia 2
HU - Ungheria 2
IR - Iran 2
KW - Kuwait 2
MM - Myanmar 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
QA - Qatar 2
SY - Repubblica araba siriana 2
XK - ???statistics.table.value.countryCode.XK??? 2
AO - Angola 1
BH - Bahrain 1
BY - Bielorussia 1
BZ - Belize 1
CG - Congo 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
Totale 9.997
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Città #
Singapore 1.231
Santa Clara 1.197
Hefei 458
Hong Kong 451
San Jose 307
Lauterbourg 251
Ho Chi Minh City 186
Ashburn 183
Seoul 182
Hanoi 131
Tokyo 114
Beijing 96
Dallas 92
Los Angeles 83
São Paulo 63
New York 59
Milan 38
Phoenix 34
Buffalo 31
Rio de Janeiro 26
Haiphong 25
Minamishinagawa 25
Council Bluffs 24
Frankfurt am Main 24
Rome 20
Toronto 20
Bengaluru 19
Helsinki 19
Brasília 18
Da Nang 18
Houston 18
Brooklyn 15
Chicago 15
Queens 14
Biên Hòa 13
Charlotte 12
Johannesburg 12
Philadelphia 12
Quito 12
Bogotá 11
Dublin 11
London 11
Tashkent 11
The Dalles 11
Chennai 10
Curitiba 10
Florence 10
Goiânia 10
Guangzhou 10
Belo Horizonte 9
Campinas 9
Düsseldorf 9
Guayaquil 9
Kuala Lumpur 9
Las Vegas 9
Mumbai 9
Porto Alegre 9
San José 9
Uberlândia 9
Asunción 8
Atlanta 8
Baku 8
Birmingham 8
Bắc Ninh 8
Caracas 8
Cleveland 8
Hải Dương 8
Medellín 8
Miami 8
Montevideo 8
Montreal 8
Ninh Bình 8
Orem 8
San Francisco 8
Baltimore 7
Cape Town 7
Colombo 7
Cremona 7
Denver 7
Guarulhos 7
Kingston 7
Nairobi 7
Naples 7
Newark 7
Nuremberg 7
Pavia 7
Washington 7
Boston 6
Cabo Frio 6
Campina Grande 6
Changsha 6
Dhaka 6
Figino 6
Indianapolis 6
Milwaukee 6
Osasco 6
Phủ Lý 6
Portsmouth 6
San Antonio 6
Santiago 6
Totale 6.032
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Nome #
Extracellular matrix defects in trichothiodystrophy 120
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack 119
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 118
From laboratory tests to functional characterisation of Cockayne syndrome 118
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. 110
Human cells mutated in the repair/transcription factor TFIIH: a model system to elucidate the UV-regulated transcriptional network 102
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 100
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy 98
Dalla conferma della diagnosi clinica dei pazienti alla dissezione dei pathways coinvolti nella risposta a stress ossidativo e radiazione UV 97
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 94
Does CSA play a role in mitochondrial quality control? 94
Multifaceted involvement of the CSA protein in the removal of DNA damage 93
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome 82
Pathogenomics of hereditary disorders defective in DNA repair and transcription 79
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity 79
Mitochondrial dysfunction and oxidative stress play a causal role in the metabolic impairment observed in primary fibroblasts from Cockayne syndrome patients 76
Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts from patients with trichothiodystrophy. 73
Malattie genetiche rare che predispongono ai tumori 72
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation 72
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 70
Temperature-sensitive mutations in XPD affecting DNA repair and transcription in patients with trichothiodystrophy 69
Genotype-phenotype Relationships in Patients with Trichothiodystrophy and Xeroderma Pigmentosum. 69
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 69
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 64
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy 64
Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells. 63
The role of mitochondrial dysfunction in Cockayne Syndrome 63
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features 62
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin 62
Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. 61
TRICHOTHIODYSTROPHY A HUMAN DNA REPAIR DISORDER WITH HETEROGENEITY IN THE CELLULAR RESPONSE TO UV LIGHT 60
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia 60
TFIIH-dependent transcriptional impairments contribute to the phenotypic differences associated with distinct XPD mutations 60
Functional consequences of mutated TFIIH complexes in primary keratinocytes from patients with trichothiodystrophy 59
Analisi dei domini funzionali di CSA 59
Riparazione del DNA e Malattie ereditarie 57
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 57
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions 55
TFIIH-dependent transcription deregulation hampers the extracellular matrix in trichothiodystrophy 55
Multifaceted involvement of the CSA protein in the removal of DNA damage. 54
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair. 49
Rac3-induced neuritogenesis requires binding to Neurabin I. 49
Trichothiodystrophy: new patients with unexpected genotype-phenotype relationships 48
Activation-inactivation of ADPRT of mammalian cells exposed to DNA damaging agents. 48
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. 48
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 48
Does CSA play a role in mitochondrial quality control? 48
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 48
The role of CSA in the response to oxidative DNA damage in human cells. 47
Structure-function analysis of the CSA gene. 47
Multifaceted involvement of the CSA protein in the removal of DNA damage. 47
New patient material 46
Nuclear localisation of the repair/transcription factor TFIIH and its stability. 46
VARIATIONS OF POLY-ADP-RIBOSE POLYMERASE IN DIFFERENT CELL SYSTEMS 45
Trichothiodystrophy: From basic mechanisms to clinical implications. 45
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. 45
Functional alterations in trichothiodystrophy: Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts 43
TTD transcriptional defects are responsible for extracellular matrix alterations 43
CSA protein and oxidative DNA damage repair. 43
Neurocutaneous Diseases 43
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 42
Malattie ereditarie difettive nella risposta al danno indotto da radiazioni UV 42
Fate of the repair/transcription complex TFIIH in human mitotic cells. 41
Functional characterization of temperature-sensitive XPD mutations in trichothiodystrophy patients with fever-dependent worsening of clinical features 40
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 39
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 39
Xeroderma pigmentosum 39
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 39
Malattie ereditarie difettive nella riparazione dei danni indotti sul DNA dai raggi ultravioletti. Corso di Aggiornamento: Difetti di riparo del DNA: meccanismi e patologie. 39
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 38
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 38
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 38
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 38
Differential involvement of specific regions of the CSA protein in UV and oxidative DNA damage repair 38
Alteration of oxidative and energy metabolism characterize Cockayne syndrome primary fibroblasts 38
From clinical features to molecular defects: lack of clear genotype-phenotype relationships in Cockayne syndrome. 37
Expression of TTDN1 in different cell types from patients with the photosensitive form of trichothiodystrophy. 37
Functional characterization of temperature-sensitive XPD mutations in TTD patients showing fever-dependent worsening of clinical features 37
TFIIH-mutated cells as a model system to dissect the multiple roles of TFIIH in chromatin dynamics 37
NOVEL CHINESE-HAMSTER ULTRAVIOLET-SENSITIVE MUTANTS FOR EXCISION REPAIR FORM COMPLEMENTATION GROUP-9 AND GROUP-10 37
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 37
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 37
Insights gained through clinical and molecular analysis of patients affected by trichothiodystrophy and Cockayne syndrome. 36
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 35
Transcriptional alterations in trichotiodystrophy affect different components of the extracellular matrix 35
GENETIC-HETEROGENEITY OF THE EXCISION REPAIR DEFECT ASSOCIATED WITH TRICHOTHIODYSTROPHY 35
Xeroderma pigmentosum 35
I sistemi di riparazione del DNA 35
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 34
Xeroderma pigmentosum 34
Two new patients with Cerebro-oculo-facio-skeletal syndrome and mutations in the CSB gene 34
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. 34
The XPD gene: one gene, two functions, three (or more) diseases. 34
A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma 34
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 34
Avanzamenti diagnostici nelle malattie ereditarie della cute 33
Micro-array analysis in trichothiodystrophy. 33
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. 33
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene 33
Malattie ereditarie difettive nella riparazione del DNA: dal quadro clinico agli ultimi aspetti della ricerca di base e applicata 33
Totale 5.475
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Categoria #
all - tutte 35.919
article - articoli 14.498
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.223
Totale 51.640
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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
2026/20271.145 274 301 570 0 0 0 0 0 0 0 0 0
Totale 10.029