IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, Claudia
 Distribuzione geografica
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Continente #
NA - Nord America 3.805
EU - Europa 3.483
AS - Asia 2.181
SA - Sud America 484
AF - Africa 45
OC - Oceania 17
Totale 10.015
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Nazione #
US - Stati Uniti d'America 3.741
PL - Polonia 2.018
SG - Singapore 702
CN - Cina 603
BR - Brasile 419
UA - Ucraina 384
HK - Hong Kong 330
IT - Italia 317
DE - Germania 199
VN - Vietnam 197
FI - Finlandia 125
GB - Regno Unito 93
TR - Turchia 91
RU - Federazione Russa 83
FR - Francia 74
JP - Giappone 67
IE - Irlanda 65
IN - India 41
ID - Indonesia 36
NL - Olanda 36
AR - Argentina 34
BD - Bangladesh 28
CA - Canada 25
AT - Austria 21
MX - Messico 21
AU - Australia 17
IQ - Iraq 16
ES - Italia 14
ZA - Sudafrica 14
EC - Ecuador 12
MY - Malesia 11
CZ - Repubblica Ceca 10
BE - Belgio 9
SA - Arabia Saudita 9
MA - Marocco 8
SE - Svezia 8
JO - Giordania 7
KE - Kenya 6
KR - Corea 6
PE - Perù 5
PK - Pakistan 5
TW - Taiwan 5
UZ - Uzbekistan 5
AZ - Azerbaigian 4
CH - Svizzera 4
CO - Colombia 4
EG - Egitto 4
ET - Etiopia 4
LT - Lituania 4
PA - Panama 4
PH - Filippine 4
RO - Romania 4
CR - Costa Rica 3
LU - Lussemburgo 3
NO - Norvegia 3
NP - Nepal 3
TT - Trinidad e Tobago 3
UY - Uruguay 3
VE - Venezuela 3
AO - Angola 2
CL - Cile 2
DZ - Algeria 2
HR - Croazia 2
IL - Israele 2
JM - Giamaica 2
LA - Repubblica Popolare Democratica del Laos 2
MU - Mauritius 2
AL - Albania 1
BB - Barbados 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
DM - Dominica 1
EE - Estonia 1
GD - Grenada 1
GR - Grecia 1
GT - Guatemala 1
GY - Guiana 1
HN - Honduras 1
HU - Ungheria 1
KG - Kirghizistan 1
KW - Kuwait 1
KZ - Kazakistan 1
LK - Sri Lanka 1
LV - Lettonia 1
OM - Oman 1
PS - Palestinian Territory 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SV - El Salvador 1
TH - Thailandia 1
Totale 10.015
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Città #
Warsaw 2.017
Fairfield 543
Singapore 334
Ashburn 327
Hong Kong 323
Woodbridge 319
Jacksonville 272
Houston 239
Seattle 218
Cambridge 190
Wilmington 172
Ann Arbor 161
Beijing 148
Princeton 124
New York 103
Los Angeles 99
Chandler 82
Dong Ket 80
Nanjing 79
Istanbul 76
Dublin 65
Helsinki 59
Ho Chi Minh City 50
Brescia 43
Dallas 39
Moscow 39
São Paulo 38
Buffalo 34
The Dalles 33
Nanchang 31
Redondo Beach 30
Des Moines 29
Jakarta 28
Dearborn 27
Hebei 25
Nuremberg 25
Phoenix 25
Tokyo 25
Hanoi 23
Milan 23
Munich 22
San Diego 22
Changsha 19
Chicago 19
San Francisco 19
Utrecht 18
London 17
Shanghai 17
Shenyang 17
Rio de Janeiro 15
Frankfurt am Main 14
Jinan 14
Santa Clara 14
Tianjin 14
Turku 14
Lappeenranta 13
Serio 13
Verona 13
Brooklyn 12
Rome 12
Boardman 11
Brasília 11
Jiaxing 11
Curitiba 10
Denver 10
Düsseldorf 10
Hangzhou 10
Montreal 10
Romola 10
Salvador 10
Boston 9
Johannesburg 9
Kunming 9
Melbourne 9
Toronto 9
Vienna 9
Belo Horizonte 8
Campinas 8
Porto Alegre 8
Amman 7
Ankara 7
Atlanta 7
Guangzhou 7
Kuala Lumpur 7
Mexico City 7
Stockholm 7
Anyang-si 6
Baghdad 6
Central 6
Charlotte 6
Haiphong 6
Nairobi 6
Vimercate 6
Augusta 5
Brno 5
Brussels 5
Dhaka 5
Fort Lauderdale 5
Gold Coast 5
Guarulhos 5
Totale 7.222
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Nome #
Genome-wide association study identifies susceptibility loci for IgA nephropathy 368
Genetic drivers of kidney defects in the digeorge syndrome 270
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 257
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 255
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study 229
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 228
Malattia cistica della midollare (MCKD), Nefropatia iperuricemica familiare giovanile (FJHN) e Glomerulocisti (GCKD) sono causate da mutazioni dello stesso gene (UMOD) che determinano alterazioni del trasporto cellulare di uromodulina. 225
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 224
Uromodulin storage diseases: clinical aspects and mechanisms. 222
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 222
Autosomal Dominant tubulointerstitial Kidney Disease with Adult onset due to a novel Renin Mutation Mapping in the Mature protein 217
Mutations in DSTYK and dominant urinary tract malformations. 214
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression 213
IgA nephropathy--the case for a genetic basis becomes stronger. 212
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds 210
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 205
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 203
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 203
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis 202
Copy number disorders are a Common Cause of Congenital Kidney Malformations 196
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 193
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 191
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 174
Uromodulin: from monogenic to multifactorial diseases. 165
Fetal abdominal wall defects 159
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 148
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 147
Chromosomal Microarray and Fetal Growth Restriction 147
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 140
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes 130
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 119
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 116
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 111
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 108
[Hyperuricemia and Gout] 107
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 107
Genetic heterogeneity of isolated vesicoureteral reflux. 102
[ADPKD: predictors of Renal Disease progression] 100
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis 97
Genetics and nosological classification of renal cystic diseases. 96
Alström syndrome: a rare and usually ignored cause of hereditary tubulo-interstitial nephritis. 96
Aggregazione familiare di anomalie congenite del rene e delle vie urinarie in un isolato genetic della provincia di Brescia: Risultati dello studio clinico-epidemiologico e genealogico. 88
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 88
[The complex etiopathogenesis of focal segmental glomerulosclerosis] 87
Alström Syndrome: A Rare Cause of Hereditary Tubulointerstitial Nephritis Due to Defects in the Primary Cilia. 86
ADPKD and Heart 86
[Molecular diagnosis of ADPKD] 85
Il fenotipo renale non è diverso nelle forme familiari e sporadiche di Nefropatia a depositi di IgA (IgAN). 84
Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis 84
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 83
Utilità dello screening genetico in Sclerosi Tuberosa paucisintomatica 79
“Caratterizzazione funzionale della dinamica di maturazione e trasporto intracellulare di isoforme mutate di uromodulina”. 77
[ADPKD and intracranial aneurysms: indications for screening, follow-up and clinical management] 77
“Amiloidosi renale da Apolipoproteina (APOA-1: una misconosciuta ausa di nefrite tubulo-interstiziale”. 76
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA 76
“Characterisation of the intracellular trafficking of uromodulin mutant isoforms”. 75
Genetics of mesangial IgA nephropathy 75
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 74
Mapping the first locus for autosomal dominant non syndromic kidney hypoplasia on chromosome 1p31-35. 74
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 71
Congenital anomalies of the kidney and urinary tract: evaluation of the long term outcome based on a single centre experience 68
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 68
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 65
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.] 61
Variable Expressivity of HNF1B Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 61
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 59
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 54
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 53
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 53
Clinical Significance of the Cystic Phenotype in Alport Syndrome 52
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy 52
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features 50
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 48
Abdominal wall defects 47
[Genetics and genetic counseling] 43
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 41
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 39
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 39
Type I hyperprolinemia: genotype/phenotype correlations 37
Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA 36
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 35
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 34
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 28
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age 28
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study 28
Exome analysis links kidney malformations to developmental disorders and reveals causal genes 27
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 25
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 25
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 22
Tolvaptan in Autosomal Dominant Polycystic Kidney Disease (ADPKD): a multicenter real life Italian experience 6
Totale 10.137
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Categoria #
all - tutte 43.702
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 43.702
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.019 0 0 0 0 0 240 106 152 154 169 85 113
2021/2022498 38 90 17 19 5 17 33 43 34 40 38 124
2022/2023331 68 1 5 22 27 92 1 37 40 3 19 16
2023/2024594 23 40 29 37 21 93 23 19 167 10 28 104
2024/20251.456 10 10 20 166 138 130 152 62 135 119 309 205
2025/20261.903 279 431 308 485 354 46 0 0 0 0 0 0
Totale 10.137