CATALOGO DEI PRODOTTI DELLA RICERCA

BOMBIERI, Cristina
 Distribuzione geografica
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Continente #
NA - Nord America 3.324
EU - Europa 2.810
AS - Asia 1.021
AF - Africa 21
OC - Oceania 5
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 7.189
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Nazione #
US - Stati Uniti d'America 3.317
GB - Regno Unito 1.007
CN - Cina 912
SE - Svezia 346
IT - Italia 319
IE - Irlanda 260
FR - Francia 236
FI - Finlandia 224
DE - Germania 218
UA - Ucraina 70
RU - Federazione Russa 46
VN - Vietnam 42
BE - Belgio 33
KR - Corea 26
CM - Camerun 20
TR - Turchia 14
NL - Olanda 12
GR - Grecia 8
IN - India 6
CA - Canada 5
LV - Lettonia 5
AU - Australia 4
CH - Svizzera 4
PL - Polonia 4
SG - Singapore 4
BR - Brasile 3
ES - Italia 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
BY - Bielorussia 1
CL - Cile 1
CO - Colombia 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 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
PK - Pakistan 1
PT - Portogallo 1
SI - Slovenia 1
Totale 7.189
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Città #
Southend 911
Jacksonville 622
Chandler 570
Woodbridge 399
Ann Arbor 358
Dublin 260
Beijing 203
Ashburn 170
Verona 159
Houston 138
Jinan 98
Wilmington 91
Lawrence 88
Princeton 88
Nanjing 80
Shenyang 77
New York 68
Hebei 62
Helsinki 57
Dearborn 43
Sindelfingen 42
Redmond 41
Tianjin 36
Dong Ket 35
Changsha 34
Haikou 33
Boardman 32
Brussels 31
Taizhou 31
Ningbo 29
Nanchang 27
Milan 26
Seoul 26
Hangzhou 25
Zhengzhou 24
Guangzhou 19
Taiyuan 18
Seattle 17
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
San Francisco 8
Sommacampagna 8
Washington 8
Padova 7
Boydton 6
Chicago 6
Düsseldorf 6
Augusta 5
Lancaster 5
Bologna 4
Fairfield 4
Philadelphia 4
Turin 4
Clearwater 3
Falls Church 3
Groningen 3
Lappeenranta 3
Riva 3
Roverbella 3
San Mateo 3
Sant'Ambrogio di Valpolicella 3
Singapore 3
Toronto 3
Warsaw 3
Ardabil 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
Novokuznetsk 2
Paris 2
Rome 2
San Diego 2
Torino 2
Venice 2
Waanrode 2
West Jordan 2
Zagreb 2
Aarau 1
Abuja 1
Amsterdam 1
Arzignano 1
Athens 1
Belovo 1
Totale 5.342
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Nome #
α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease 223
An Interleukin 13 polymorphism is associated with symptom severity in adult subjects with ever asthma 153
Mild asthma and chronic bronchitis seem to influence functional exercise capacity: a multi-case control study 122
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 113
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 113
The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project 108
Gene Environment Interactions in Respiratory Diseases – Protocol, Standard Operative Procedures and Questionnaires 108
Ten-year trend in the prevalence of chronic cough and phlegm among young adults in Italy 108
Ability of different flow rates of fractional exaled nitric oxide (FeNO) to discriminate between asthmatic and no asthamatic subject 108
Analisi del gene TGFb1 quale possibile modificatore del fenotipo in fibrosi cistica 104
Association analysis of candidate gene polymorphisms in Asthma, Rhinitis and Chronic Bronchitis: preliminary results from the GEIRD study 104
Association of IL4Ra gene with severity of lung disease in Cystic Fibrosis 100
Case-control association analysis of candidate genes in asthma, rhinitis and COPD: A preliminary report 98
Association between oculonasal symptoms and specific sensitization in the GEIRD project 98
A new approach to identify non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. 96
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. 94
ASSOCIATION ANALYSIS OF CANDIDATE GENE POLYMORPHISMS WITH ASTHMA SEVERITY: RESULTS FROM THE GEIRD STUDY 94
Family based association study of the 9p22 chromosomal region in Italian subjects with allergic asthma 92
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene 90
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 90
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. 89
Increased incidence of Cystic Fibrosis gene mutations in adults with disseminated bronchiectasis. 89
SNPs in SPINK5 gene region are associated with asthma severity: Preliminary results from the gene environment interactions in respiratory diseases (GEIRD) study 88
Association of FcER1A and RAD50 polymorphisms with serum IgE levels, asthma and rhinitis 88
Blood inflammatory patterns in different respiratory phenotypes from general population 88
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. 87
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients 87
Genetics of atopic asthma: a genome linkage analysis 86
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. 86
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. 85
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity 84
Analisi di linkage in famiglie con carcinoma mammario ereditario. 83
Geni modificatori del fenotipo polmonare in Fibrosi Cistica 83
Broncopneumopatia Cronica Ostruttiva e Bronchiettasie Disseminate. 82
Chronic pulmonary disease 82
Family based association analysis of TGFB1 as modifier gene in Cystic Fibrosis 82
Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution 81
Recommendations for the classification of diseases as CFTR-related disorders 81
ORMDL3 haplotype is associated with asthma in an italian familial collection 81
Health-related quality of life varies in different respiratory disorders: a multi-case control population based study 81
Screening of 62 mutations in a cohort of cystic fibrosis patients from North-Eastern Italy: their incidence and clinical features of definied genotype. 80
IFRD1: a possible modifier gene for Cystic Fibrosis Lung Diesease 80
Prevalence of self reported physician diagnosed asthma, chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap syndrome 80
Association of candidate genes with FeNO in asthma: preliminary results from the Gene Environment Interactions in Respiratory Diseases (GEIRD) study 80
Genotype-phenotype correlations in Cystic Fibrosis. 78
The haemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated 77
Expression of receptor for advanced glycation end products in sarcoid granulomas 77
Comment on “CFTR gene mutations in sarcoidosis”. 76
Lung function, bronchial hyperresponsiveness (BHR) and metabolic risk factors in adults: Preliminary results from the gene environment interaction in respiratory disease (GEIRD) survey 76
null 76
Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis 75
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations 75
Associazione di due snp sul cromosoma 9p24.1 con Asma Allergico Pediatrico in famiglie Italiane 74
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function 74
Aspetti genetici delle broncopneumopatie croniche ostruttive e delle bronchiettasie diffuse (Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis). 72
Highly preferential association of NonF508del CF mutations with the M470 allele 72
Association study of SNPs in the PHF11 gene in Italian families with allergic asthma 72
Associazione tra SNP in geni candidati e frazione di ossido nitrico esalato (feno) nell’asma. 72
CFTR gene variant IVS8-5T in Disseminated Bronchiectasis. 71
Associazione di varianti geniche nei geni FCER1A e STAT6 con le IgE Seriche totali nei panificatori 69
SNPs in FAM13A and IL2RB genes are associated with FeNO in adult subjects with asthma 69
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign 68
Association study of the candidate region 9p22 in Italian families with asthma 68
Has the prevalence of chronic cough and phlegm increased during the past decade among young adults in Italy? 68
Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders 68
Ricerca di mutazioni nel promotore del gene CFTR in soggetii affetti da Fibrosi Cistica 67
Complete detection of mutations in cystic fibrosis patients of Native American origin. 65
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. 65
Modulation of genetic associations with serum urate levels by body-mass-index in humans. 65
Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits 65
Complement Receptor 1 gene polymorphisms in sarcoidosis. 64
SNP Analysis of the PHF11 gene in Italian families with Allergic Asthma 64
IL4Ra: un possibile gene modificatore del fenotipo polmonare in Fibrosi Cistica 63
Frequency of large CFTR gene rearrangements in Italian CF patients 62
Cistic Fibrosis mutation testing in Italy. 62
Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian Study. 62
Association study of SNPs in the PHF11 gene in Italian families with allergic asthma 61
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes 61
Anthropological features of the CFTR gene: Its variability in an African population 59
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. 59
IFRD1: possibile gene modificatore della malattia polmonare in fibrosi cistica 57
Studio di associazione di polimorfismi del gene PHF11 in famiglie italiane con asma allergico 57
Disrupted Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by a 5´UTR Mutation Is Associated with a CFTR-Related Disease 56
Studio di associazione della regione cromosomica 9p22 in famiglie italiane con asma allergico 51
Genetica Medica e Umana - Diagnosi molecolare delle malattie genetiche 48
Procedura per l’identificazione di possibili parentele in un campione di individui tramite l’analisi dei genotipi 47
The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey. 46
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 43
Genotypes and phenotypes in cystic fibrosis and CFTR related disorders 41
The association among inflammation-related genes, fractional exhaled nitric oxide (FeNO), and symptom severity in adult asthma: a structural equation model (SEM). 32
Association between candidate gene polymorphisms and total IgE in adult subjects with asthma: preliminary results from the GEIRD study 29
IL18 gene polymorphism is associated with total IgE in adult subjects with asthma 26
Tau isoforms: gaining insight into MAPT alternative splicing 20
Advanced cellular models for rare disease study: exploring neural, muscle and skeletal organoids 10
The ribonucleoprotein RBM20 regulates Tau splicing 5
Totale 7.268
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Categoria #
all - tutte 20.470
article - articoli 11.472
book - libri 274
conference - conferenze 8.330
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 394
Totale 40.940
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201953 0 0 0 0 0 0 0 0 0 0 16 37
2019/2020951 106 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
2023/2024717 39 59 94 90 111 135 32 56 19 76 6 0
Totale 7.268