CATALOGO DEI PRODOTTI DELLA RICERCA

BOMBIERI, Cristina
 Distribuzione geografica
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Continente #
NA - Nord America 3.378
EU - Europa 3.059
AS - Asia 1.155
AF - Africa 21
SA - Sud America 9
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 7.630
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Nazione #
US - Stati Uniti d'America 3.371
GB - Regno Unito 1.008
CN - Cina 935
IT - Italia 417
SE - Svezia 346
IE - Irlanda 261
FR - Francia 239
FI - Finlandia 224
DE - Germania 218
RU - Federazione Russa 187
SG - Singapore 102
UA - Ucraina 70
VN - Vietnam 42
BE - Belgio 33
KR - Corea 26
CM - Camerun 20
NL - Olanda 14
TR - Turchia 14
JP - Giappone 9
GR - Grecia 8
IN - India 6
CA - Canada 5
CH - Svizzera 5
LV - Lettonia 5
AU - Australia 4
PL - Polonia 4
BR - Brasile 3
CL - Cile 3
CZ - Repubblica Ceca 3
ES - Italia 3
PK - Pakistan 3
AE - Emirati Arabi Uniti 2
DK - Danimarca 2
EU - Europa 2
GE - Georgia 2
HR - Croazia 2
IR - Iran 2
LU - Lussemburgo 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AT - Austria 1
BD - Bangladesh 1
BY - Bielorussia 1
CO - Colombia 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
HK - Hong Kong 1
ID - Indonesia 1
IL - Israele 1
IQ - Iraq 1
IS - Islanda 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
LK - Sri Lanka 1
MY - Malesia 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PE - Perù 1
PT - Portogallo 1
SI - Slovenia 1
UZ - Uzbekistan 1
Totale 7.630
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Città #
Southend 911
Jacksonville 622
Chandler 570
Woodbridge 399
Ann Arbor 358
Dublin 261
Verona 244
Beijing 213
Ashburn 175
Houston 138
Jinan 98
Wilmington 91
Lawrence 88
Princeton 88
Nanjing 80
Shenyang 77
Singapore 73
New York 68
Hebei 62
Helsinki 57
Boardman 51
Dearborn 43
Sindelfingen 42
Redmond 41
Tianjin 36
Dong Ket 35
Changsha 34
Haikou 33
Brussels 31
Taizhou 31
Ningbo 29
Milan 28
Nanchang 27
Seoul 26
Hangzhou 25
Zhengzhou 24
Guangzhou 19
Taiyuan 18
Seattle 17
Kent 15
Chions 14
Lanzhou 14
Jiaxing 13
Norwalk 13
Saint Petersburg 11
San Giovanni Lupatoto 11
Auburn Hills 10
Fuzhou 10
Los Angeles 10
Redwood City 10
Tokyo 9
San Francisco 8
Sommacampagna 8
Washington 8
Padova 7
Boydton 6
Chicago 6
Düsseldorf 6
Turin 6
Augusta 5
Lancaster 5
Bologna 4
Fairfield 4
Philadelphia 4
Amsterdam 3
Aureilhan 3
Clearwater 3
Falls Church 3
Groningen 3
Lappeenranta 3
Moscow 3
Palermo 3
Riva 3
Roverbella 3
San Mateo 3
Sant'Ambrogio di Valpolicella 3
Toronto 3
Warsaw 3
Ardabil 2
Brno 2
Canberra 2
Columbus 2
Edinburgh 2
Kochi 2
Kunming 2
Leawood 2
Manila 2
Mcallen 2
Montréal 2
Newark 2
Niterói 2
Nogara 2
North Bergen 2
Novokuznetsk 2
Olmedo 2
Paris 2
Rome 2
San Diego 2
Torino 2
Venice 2
Totale 5.566
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Nome #
α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease 225
An Interleukin 13 polymorphism is associated with symptom severity in adult subjects with ever asthma 157
SNPs in FAM13A and IL2RB genes are associated with FeNO in adult subjects with asthma 146
Mild asthma and chronic bronchitis seem to influence functional exercise capacity: a multi-case control study 126
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 123
Ability of different flow rates of fractional exaled nitric oxide (FeNO) to discriminate between asthmatic and no asthamatic subject 117
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 115
Gene Environment Interactions in Respiratory Diseases – Protocol, Standard Operative Procedures and Questionnaires 114
The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project 111
Ten-year trend in the prevalence of chronic cough and phlegm among young adults in Italy 111
Association analysis of candidate gene polymorphisms in Asthma, Rhinitis and Chronic Bronchitis: preliminary results from the GEIRD study 109
Analisi del gene TGFb1 quale possibile modificatore del fenotipo in fibrosi cistica 106
Association of IL4Ra gene with severity of lung disease in Cystic Fibrosis 105
Association between oculonasal symptoms and specific sensitization in the GEIRD project 103
A new approach to identify non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. 101
Case-control association analysis of candidate genes in asthma, rhinitis and COPD: A preliminary report 99
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. 98
ASSOCIATION ANALYSIS OF CANDIDATE GENE POLYMORPHISMS WITH ASTHMA SEVERITY: RESULTS FROM THE GEIRD STUDY 96
Family based association study of the 9p22 chromosomal region in Italian subjects with allergic asthma 95
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene 94
Homozygosity for a novel splice site mutation (2790-2 A/G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descendent. 93
Increased incidence of Cystic Fibrosis gene mutations in adults with disseminated bronchiectasis. 93
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. 93
Association of FcER1A and RAD50 polymorphisms with serum IgE levels, asthma and rhinitis 93
Analysis of the complete coding region of the CFTR gene in a cohort of patients from North-Eastern Italy: identification of 90% of the mutations 93
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients 92
SNPs in SPINK5 gene region are associated with asthma severity: Preliminary results from the gene environment interactions in respiratory diseases (GEIRD) study 91
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity 90
Blood inflammatory patterns in different respiratory phenotypes from general population 90
Genetics of atopic asthma: a genome linkage analysis 89
Characterization of a novel 21-kb deletion, CFTRdele2,3 (21kb), in the CFTR gene: a cystic fibrosis mutation of a Slavic origin common in Central and East Europe. 89
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. 89
Geni modificatori del fenotipo polmonare in Fibrosi Cistica 89
Health-related quality of life varies in different respiratory disorders: a multi-case control population based study 88
Broncopneumopatia Cronica Ostruttiva e Bronchiettasie Disseminate. 86
Analisi di linkage in famiglie con carcinoma mammario ereditario. 86
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 86
Chronic pulmonary disease 85
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution 84
Screening of 62 mutations in a cohort of cystic fibrosis patients from North-Eastern Italy: their incidence and clinical features of definied genotype. 84
ORMDL3 haplotype is associated with asthma in an italian familial collection 84
IFRD1: a possible modifier gene for Cystic Fibrosis Lung Diesease 83
Associazione di due snp sul cromosoma 9p24.1 con Asma Allergico Pediatrico in famiglie Italiane 83
Association of candidate genes with FeNO in asthma: preliminary results from the Gene Environment Interactions in Respiratory Diseases (GEIRD) study 83
Prevalence of self reported physician diagnosed asthma, chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap syndrome 82
Recommendations for the classification of diseases as CFTR-related disorders 81
Lung function, bronchial hyperresponsiveness (BHR) and metabolic risk factors in adults: Preliminary results from the gene environment interaction in respiratory disease (GEIRD) survey 81
Genotype-phenotype correlations in Cystic Fibrosis. 79
Comment on “CFTR gene mutations in sarcoidosis”. 79
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations 79
The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated 79
Expression of receptor for advanced glycation end products in sarcoid granulomas 79
Highly preferential association of NonF508del CF mutations with the M470 allele 79
Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis 78
Aspetti genetici delle broncopneumopatie croniche ostruttive e delle bronchiettasie diffuse (Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis). 77
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function 77
null 76
CFTR gene variant IVS8-5T in Disseminated Bronchiectasis. 75
Associazione di varianti geniche nei geni FCER1A e STAT6 con le IgE Seriche totali nei panificatori 75
Association study of SNPs in the PHF11 gene in Italian families with allergic asthma 75
Associazione tra SNP in geni candidati e frazione di ossido nitrico esalato (feno) nell’asma. 74
Has the prevalence of chronic cough and phlegm increased during the past decade among young adults in Italy? 72
Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders 72
Association study of the candidate region 9p22 in Italian families with asthma 71
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign 70
Complete detection of mutations in cystic fibrosis patients of Native American origin. 69
Ricerca di mutazioni nel promotore del gene CFTR in soggetii affetti da Fibrosi Cistica 69
IL4Ra: un possibile gene modificatore del fenotipo polmonare in Fibrosi Cistica 69
SNP Analysis of the PHF11 gene in Italian families with Allergic Asthma 69
Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits 69
Modulation of genetic associations with serum urate levels by body-mass-index in humans. 68
Complement Receptor 1 gene polymorphisms in sarcoidosis. 67
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. 67
Association study of SNPs in the PHF11 gene in Italian families with allergic asthma 66
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian Study. 65
Frequency of large CFTR gene rearrangements in Italian CF patients 64
Cistic Fibrosis mutation testing in Italy. 64
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes 64
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 63
Anthropological features of the CFTR gene: Its variability in an African population 62
Studio di associazione di polimorfismi del gene PHF11 in famiglie italiane con asma allergico 62
IFRD1: possibile gene modificatore della malattia polmonare in fibrosi cistica 60
Disrupted Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by a 5´UTR Mutation Is Associated with a CFTR-Related Disease 58
Studio di associazione della regione cromosomica 9p22 in famiglie italiane con asma allergico 54
Genetica Medica e Umana - Diagnosi molecolare delle malattie genetiche 52
The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey. 49
Procedura per l’identificazione di possibili parentele in un campione di individui tramite l’analisi dei genotipi 49
IL18 gene polymorphism is associated with total IgE in adult subjects with asthma 48
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 48
Genotypes and phenotypes in cystic fibrosis and CFTR related disorders 43
Association between candidate gene polymorphisms and total IgE in adult subjects with asthma: preliminary results from the GEIRD study 32
The association among inflammation-related genes, fractional exhaled nitric oxide (FeNO), and symptom severity in adult asthma: a structural equation model (SEM). 32
Tau isoforms: gaining insight into MAPT alternative splicing 22
Advanced cellular models for rare disease study: exploring neural, muscle and skeletal organoids 17
The ribonucleoprotein RBM20 regulates Tau splicing 11
Totale 7.709
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Categoria #
all - tutte 23.372
article - articoli 13.135
book - libri 310
conference - conferenze 9.482
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 445
Totale 46.744
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020845 0 7 8 89 71 111 102 93 65 137 75 87
2020/20211.024 140 163 56 109 103 87 12 71 94 23 107 59
2021/2022783 56 235 6 100 16 9 12 40 22 65 61 161
2022/20231.690 121 185 149 290 155 401 23 117 166 27 33 23
2023/2024931 39 59 94 90 111 135 32 56 19 76 140 80
2024/2025227 154 73 0 0 0 0 0 0 0 0 0 0
Totale 7.709