IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, CLAUDIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.727
EU - Europa 3.793
AS - Asia 2.698
SA - Sud America 530
AF - Africa 80
OC - Oceania 40
Totale 11.868
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Nazione #
US - Stati Uniti d'America 4.628
PL - Polonia 2.022
SG - Singapore 874
CN - Cina 759
BR - Brasile 448
IT - Italia 400
UA - Ucraina 384
HK - Hong Kong 351
VN - Vietnam 251
FI - Finlandia 208
DE - Germania 207
FR - Francia 162
GB - Regno Unito 106
TR - Turchia 96
RU - Federazione Russa 84
BD - Bangladesh 80
JP - Giappone 73
IE - Irlanda 66
IN - India 54
CA - Canada 46
NL - Olanda 42
ID - Indonesia 41
AU - Australia 40
AR - Argentina 37
MX - Messico 30
AT - Austria 21
IQ - Iraq 20
NG - Nigeria 17
ZA - Sudafrica 16
ES - Italia 15
EC - Ecuador 14
CZ - Repubblica Ceca 13
MY - Malesia 13
SA - Arabia Saudita 13
BE - Belgio 12
SE - Svezia 12
KR - Corea 10
CO - Colombia 9
MA - Marocco 9
JO - Giordania 8
TW - Taiwan 8
DZ - Algeria 7
UZ - Uzbekistan 7
KE - Kenya 6
LT - Lituania 6
PK - Pakistan 6
RO - Romania 6
ET - Etiopia 5
PA - Panama 5
PE - Perù 5
PH - Filippine 5
TN - Tunisia 5
UY - Uruguay 5
VE - Venezuela 5
AZ - Azerbaigian 4
CH - Svizzera 4
EG - Egitto 4
NP - Nepal 4
PS - Palestinian Territory 4
RS - Serbia 4
AO - Angola 3
CR - Costa Rica 3
IL - Israele 3
LU - Lussemburgo 3
NO - Norvegia 3
TH - Thailandia 3
TT - Trinidad e Tobago 3
AL - Albania 2
BO - Bolivia 2
CL - Cile 2
DO - Repubblica Dominicana 2
HR - Croazia 2
JM - Giamaica 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
MU - Mauritius 2
OM - Oman 2
PT - Portogallo 2
PY - Paraguay 2
QA - Qatar 2
SN - Senegal 2
SV - El Salvador 2
BB - Barbados 1
BF - Burkina Faso 1
BW - Botswana 1
BY - Bielorussia 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
LK - Sri Lanka 1
LV - Lettonia 1
MD - Moldavia 1
Totale 11.865
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Città #
Warsaw 2.018
Fairfield 544
Singapore 470
Ashburn 430
Hong Kong 343
Woodbridge 319
Jacksonville 275
San Jose 272
Houston 244
Seattle 218
Cambridge 191
Wilmington 172
Ann Arbor 161
Beijing 155
The Dalles 150
Helsinki 141
New York 131
Princeton 124
Los Angeles 123
Chandler 82
Lauterbourg 82
Dong Ket 80
Nanjing 80
Council Bluffs 76
Istanbul 76
Dublin 66
Ho Chi Minh City 61
Brescia 51
Dallas 45
São Paulo 45
Moscow 39
Buffalo 38
Hanoi 38
Nanchang 31
Santa Clara 31
Des Moines 30
Phoenix 30
Redondo Beach 30
Jakarta 29
Milan 29
Tokyo 29
Dearborn 27
Chicago 26
Nuremberg 26
Hebei 25
San Francisco 23
Munich 22
Rome 22
San Diego 22
Shanghai 21
Changsha 19
London 19
Utrecht 18
Montreal 17
Shenyang 17
Abuja 16
Frankfurt am Main 16
Rio de Janeiro 16
Atlanta 15
Brooklyn 15
Orem 15
Jinan 14
Lappeenranta 14
Tianjin 14
Turku 14
Serio 13
Verona 13
Boardman 12
Brasília 12
Denver 12
Hangzhou 12
Jiaxing 12
Ankara 11
Guangzhou 11
Salvador 11
Stockholm 11
Toronto 11
Boston 10
Curitiba 10
Düsseldorf 10
Johannesburg 10
Melbourne 10
Mumbai 10
Romola 10
Vancouver 10
Baghdad 9
Belo Horizonte 9
Kunming 9
Mexico City 9
Vienna 9
Amman 8
Brno 8
Brussels 8
Campinas 8
Columbus 8
Haiphong 8
Kuala Lumpur 8
Philadelphia 8
Porto Alegre 8
Charlotte 7
Totale 8.377
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Nome #
Genome-wide association study identifies susceptibility loci for IgA nephropathy 506
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 294
Genetic drivers of kidney defects in the digeorge syndrome 288
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 264
Mutations in DSTYK and dominant urinary tract malformations. 260
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 260
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 249
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study 247
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 246
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. 241
Uromodulin storage diseases: clinical aspects and mechanisms. 240
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression 239
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 239
Autosomal Dominant tubulointerstitial Kidney Disease with Adult onset due to a novel Renin Mutation Mapping in the Mature protein 238
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 231
IgA nephropathy--the case for a genetic basis becomes stronger. 228
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds 225
Copy number disorders are a Common Cause of Congenital Kidney Malformations 222
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 220
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis 216
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 211
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 208
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 206
Uromodulin: from monogenic to multifactorial diseases. 184
Fetal abdominal wall defects 174
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 162
Chromosomal Microarray and Fetal Growth Restriction 162
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 158
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 152
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes 143
[Hyperuricemia and Gout] 138
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 132
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 131
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 125
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 124
[ADPKD: predictors of Renal Disease progression] 122
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 121
Alström syndrome: a rare and usually ignored cause of hereditary tubulo-interstitial nephritis. 116
Genetics and nosological classification of renal cystic diseases. 115
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. 114
Genetic heterogeneity of isolated vesicoureteral reflux. 113
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis 109
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 107
Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis 105
[Molecular diagnosis of ADPKD] 104
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 103
Alström Syndrome: A Rare Cause of Hereditary Tubulointerstitial Nephritis Due to Defects in the Primary Cilia. 103
[The complex etiopathogenesis of focal segmental glomerulosclerosis] 103
ADPKD and Heart 102
[ADPKD and intracranial aneurysms: indications for screening, follow-up and clinical management] 99
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 98
Il fenotipo renale non è diverso nelle forme familiari e sporadiche di Nefropatia a depositi di IgA (IgAN). 96
“Characterisation of the intracellular trafficking of uromodulin mutant isoforms”. 96
“Amiloidosi renale da Apolipoproteina (APOA-1: una misconosciuta ausa di nefrite tubulo-interstiziale”. 94
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 90
Utilità dello screening genetico in Sclerosi Tuberosa paucisintomatica 88
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 87
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA 86
Congenital anomalies of the kidney and urinary tract: evaluation of the long term outcome based on a single centre experience 85
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 85
“Caratterizzazione funzionale della dinamica di maturazione e trasporto intracellulare di isoforme mutate di uromodulina”. 84
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 83
Genetics of mesangial IgA nephropathy 83
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features 81
Mapping the first locus for autosomal dominant non syndromic kidney hypoplasia on chromosome 1p31-35. 80
Abdominal wall defects 73
Clinical Significance of the Cystic Phenotype in Alport Syndrome 73
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 72
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.] 71
Variable Expressivity of HNF1B Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 71
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 70
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 69
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 67
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy 67
[Genetics and genetic counseling] 65
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age 62
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 61
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 59
Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA 57
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 53
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 53
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 51
Type I hyperprolinemia: genotype/phenotype correlations 50
Exome analysis links kidney malformations to developmental disorders and reveals causal genes 46
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study 46
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 39
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 37
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 35
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 32
Tolvaptan in Autosomal Dominant Polycystic Kidney Disease (ADPKD): a multicenter real life Italian experience 32
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME 19
Phenotypic Heterogeneity in Type IV Collagen-Associated Nephropathy: The Cystic Phenotype 17
Sodium-Glucose Cotransporter-2–inhibitors in Adult Patients With Alport Syndrome 17
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience 15
Totale 11.994
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Categoria #
all - tutte 49.885
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 49.885
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021113 0 0 0 0 0 0 0 0 0 0 0 113
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
2025/20263.760 279 431 308 485 354 299 586 154 250 336 183 95
Totale 11.994