NARDO, TIZIANA
 Distribuzione geografica
Continente #
AS - Asia 2.487
NA - Nord America 1.609
SA - Sud America 549
EU - Europa 360
AF - Africa 47
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.057
Nazione #
US - Stati Uniti d'America 1.529
SG - Singapore 1.076
CN - Cina 515
BR - Brasile 445
VN - Vietnam 304
HK - Hong Kong 243
FR - Francia 139
KR - Corea 100
IT - Italia 60
JP - Giappone 52
BD - Bangladesh 50
AR - Argentina 44
DE - Germania 39
IN - India 38
CA - Canada 32
GB - Regno Unito 28
MX - Messico 21
NL - Olanda 21
IL - Israele 19
ID - Indonesia 15
CO - Colombia 13
ZA - Sudafrica 13
EC - Ecuador 12
FI - Finlandia 12
TR - Turchia 12
MA - Marocco 11
PY - Paraguay 11
EG - Egitto 8
IQ - Iraq 8
VE - Venezuela 8
JM - Giamaica 7
RU - Federazione Russa 7
SA - Arabia Saudita 7
UZ - Uzbekistan 7
IE - Irlanda 6
SE - Svezia 6
CL - Cile 5
CR - Costa Rica 5
DO - Repubblica Dominicana 5
ES - Italia 5
KZ - Kazakistan 5
UY - Uruguay 5
AT - Austria 4
AU - Australia 4
HN - Honduras 4
NP - Nepal 4
PE - Perù 4
PK - Pakistan 4
PL - Polonia 4
UA - Ucraina 4
AE - Emirati Arabi Uniti 3
BA - Bosnia-Erzegovina 3
CH - Svizzera 3
KE - Kenya 3
LK - Sri Lanka 3
LT - Lituania 3
MD - Moldavia 3
MY - Malesia 3
PH - Filippine 3
TN - Tunisia 3
AZ - Azerbaigian 2
BE - Belgio 2
BO - Bolivia 2
DZ - Algeria 2
GT - Guatemala 2
JO - Giordania 2
KG - Kirghizistan 2
KW - Kuwait 2
LC - Santa Lucia 2
NG - Nigeria 2
OM - Oman 2
PT - Portogallo 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CU - Cuba 1
CY - Cipro 1
CZ - Repubblica Ceca 1
EE - Estonia 1
ET - Etiopia 1
GE - Georgia 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
LA - Repubblica Popolare Democratica del Laos 1
LV - Lettonia 1
LY - Libia 1
MN - Mongolia 1
NI - Nicaragua 1
RO - Romania 1
SN - Senegal 1
SY - Repubblica araba siriana 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.057
Città #
Santa Clara 824
Singapore 642
Hefei 247
Hong Kong 238
San Jose 127
Lauterbourg 125
Ho Chi Minh City 118
Seoul 100
Ashburn 82
Hanoi 78
Beijing 69
Dallas 52
Los Angeles 52
São Paulo 41
Tokyo 37
New York 26
Buffalo 18
Frankfurt am Main 16
Toronto 16
Rio de Janeiro 15
Haiphong 14
Minamishinagawa 14
Pavia 13
Bengaluru 10
Biên Hòa 9
Helsinki 9
London 8
Milan 8
Phoenix 8
Brooklyn 7
Da Nang 7
Dhaka 7
Düsseldorf 7
Johannesburg 7
Tashkent 7
Curitiba 6
Dublin 6
Guarulhos 6
Stockholm 6
Brasília 5
Cairo 5
Campina Grande 5
Chennai 5
Hải Dương 5
Medellín 5
Orem 5
Ottawa 5
Quận Bình Thạnh 5
Riyadh 5
Amsterdam 4
Boston 4
Cape Town 4
Caracas 4
Chicago 4
Chongqing 4
Colombo 4
Council Bluffs 4
Florence 4
Guayaquil 4
Houston 4
Montevideo 4
Montreal 4
Mumbai 4
Nuremberg 4
Rome 4
Uberlândia 4
Yên Bái 4
Agadir 3
Asunción 3
Belo Horizonte 3
Betim 3
Bragança Paulista 3
Catanduva 3
Changsha 3
Charlotte 3
Chisinau 3
Fortaleza 3
Gainesville 3
Heilbronn 3
Itaquaquecetuba 3
Kingston 3
Lima 3
Londrina 3
Maceió 3
Manaus 3
Mexico City 3
Newark 3
Niterói 3
Paranaguá 3
Philadelphia 3
Piracicaba 3
Porto Alegre 3
Rancho Cucamonga 3
Ribeirão Preto 3
Rio das Ostras 3
San José 3
Sorocaba 3
Sumaré 3
Sydney 3
São Bernardo do Campo 3
Totale 3.303
Nome #
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
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
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 89
Chromosomal instability and telomere length variations during the life span of human fibroblast clones. 82
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 81
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
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
Riparazione del DNA e Malattie ereditarie. 66
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene 64
PCNA acetylation by CBP/p300 links its degradation to DNA repair synthesis 59
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. 59
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect 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
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
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. 47
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. 46
CBP/p300-mediated acetylation of PCNA is required for its chromatin removal and degradation in nucleotide excision repair 46
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 45
Reduced amounts of collagen type VI reveal extracellular matrix defects in trichothiodystrophy and a new role of TFIIH in transcription derepression 44
New patient material 43
Investigating the role of p300 and CBP in Nucleotide Excision Repair: interaction with NER factors. 43
A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage 43
Functional alterations in trichothiodystrophy: Overexpression of Matrix Metalloproteinase-I (MMP-1) in primary skin fibroblasts 41
CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis 41
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
Malattie genetiche da difetti nella riparazione per excisione di nucleotidi. 38
Identificazione e caratterizzazione di pazienti difettivi nella riparazione del DNA 38
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
p300/CBP acetyl transferases interact with and acetylate the nucleotide excision repair factor XPG. 37
A novel mutation in XPD causing temperature-dependent dysfunction of the transcription/repair complex TFIIH 36
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. 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
Degradation of p21(CDKN1A) after DNA damage is independent of type of lesion, and is not required for DNA repair. 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
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. 34
The acetyltranferases p300/CBP interact with, and acetylate XPG protein in nucleotide excision repair. 34
A third complementation group of UV-sensitive syndrome with a mutation in the CSA gene 32
A novel mutation in XPD causing temperature-dependent aggravation of TFIIH stability and activities in a patient affected by trichothiodystrophy 32
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 31
Telomeric fusions in cultured human fibroblasts as a source of genomic instability 31
Micro-array analysis in trichothiodystrophy. 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
Two new patients with the mild form of Cockayne syndrome and mutations in the CSB gene. 29
Analysis of the functional domains of the CSA protein 29
Aspetti clinici e molecolari della tricotiodistrofia 29
Functional alterations in trichothiodystrophy. 29
Funzioni difettive nella tricotiodistrofia. 29
The reduced levels of the repair/transcription factor TFIIH in trichothiodystrophy are not due to instability of the mutated XPD transcript. 29
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 29
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 29
Transcriptional defects in keratinocytes of patients affected by trichothiodystrophy. 29
Trichothiodystrophy with normal DNA repair efficiency and mutations in the TTDN1 gene. 29
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. 29
Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes. 29
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage 29
XPD and cell cycle progression. 29
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy 28
Basis of the puzzling variety of the clinical features of NER defective disorders 28
Involvement of the TTDN1 gene in the non-photosensitive form of trichothiodystrophy. 28
New patient material. 28
Relationships between the general transcription factor TFIIE and the transcription/repair complex TFIIH 28
Gene expression analysis by microarrays in patients affected by trichothiodystrophy. 28
Expression of TTDN1 in different cell types from patients affected by trichothiodystrophy. 27
Micro-array analysis in trichothiodystrophy. 27
New patient material. 27
Two novel mutations in XPD associated with trichothiodystrophy result in temperature-dependent dysfunction of the transcription/repair complex TFIIH 27
Phenotypic reversion of human keratinocytes from a patient suffering from Cockayne syndrome (CS) 26
Alterazioni trascrizionali associate a mutazioni in XPD 26
Profili di espressione genica in pazienti con mutazioni nel gene XPD. 26
XPD and cell cycle progression. 26
p8/TTD-A as a repair-specific TFIIH subunit. 26
XPD and cell cycle progression. 26
New patient material. 25
Altered collagen VI transcription in primary fibroblasts from patients with trichothiodystrophy reveals a new role of TFIIH in transcription derepression 25
UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients 25
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A 25
Micro-array analysis in trichothiodystrophy. 25
Genetic, molecular and functional characterization of Cockayne syndrome, a rare transcription/repair defective hereditary disease 25
Totale 4.204
Categoria #
all - tutte 17.780
article - articoli 6.626
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.406


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20246 0 0 0 0 0 0 0 0 1 0 4 1
2024/20252.174 5 5 146 83 716 165 10 79 55 49 443 418
2025/20262.784 133 444 266 436 545 71 340 161 145 111 71 61
2026/2027116 116 0 0 0 0 0 0 0 0 0 0 0
Totale 5.080