IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, CLAUDIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.483
EU - Europa 3.756
AS - Asia 2.648
SA - Sud America 530
AF - Africa 80
OC - Oceania 39
Totale 11.536
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Nazione #
US - Stati Uniti d'America 4.392
PL - Polonia 2.022
SG - Singapore 872
CN - Cina 755
BR - Brasile 448
UA - Ucraina 384
IT - Italia 368
HK - Hong Kong 350
VN - Vietnam 251
FI - Finlandia 208
DE - Germania 207
FR - Francia 160
GB - Regno Unito 105
TR - Turchia 96
RU - Federazione Russa 84
JP - Giappone 73
IE - Irlanda 66
IN - India 54
NL - Olanda 42
CA - Canada 41
ID - Indonesia 41
AU - Australia 39
AR - Argentina 37
BD - Bangladesh 37
MX - Messico 29
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
ET - Etiopia 5
PA - Panama 5
PE - Perù 5
PH - Filippine 5
RO - Romania 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
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
NA - Namibia 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 11.535
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Città #
Warsaw 2.018
Fairfield 544
Singapore 469
Ashburn 419
Hong Kong 342
Woodbridge 319
Jacksonville 272
Houston 241
San Jose 235
Seattle 218
Cambridge 190
Wilmington 172
Ann Arbor 161
Beijing 154
The Dalles 150
Helsinki 141
Princeton 124
New York 115
Los Angeles 110
Chandler 82
Lauterbourg 82
Dong Ket 80
Nanjing 80
Istanbul 76
Council Bluffs 70
Dublin 66
Ho Chi Minh City 61
Brescia 51
São Paulo 45
Dallas 44
Moscow 39
Hanoi 38
Buffalo 35
Nanchang 31
Des Moines 30
Redondo Beach 30
Jakarta 29
Milan 29
Tokyo 29
Dearborn 27
Phoenix 27
Nuremberg 26
Hebei 25
Chicago 23
Munich 22
San Diego 22
San Francisco 22
Shanghai 21
Changsha 19
Rome 19
London 18
Utrecht 18
Santa Clara 17
Shenyang 17
Abuja 16
Frankfurt am Main 16
Rio de Janeiro 16
Montreal 15
Jinan 14
Lappeenranta 14
Orem 14
Tianjin 14
Turku 14
Brooklyn 13
Serio 13
Verona 13
Boardman 12
Brasília 12
Denver 12
Hangzhou 12
Jiaxing 12
Ankara 11
Guangzhou 11
Salvador 11
Stockholm 11
Toronto 11
Atlanta 10
Boston 10
Curitiba 10
Düsseldorf 10
Johannesburg 10
Melbourne 10
Mumbai 10
Romola 10
Vancouver 10
Baghdad 9
Belo Horizonte 9
Kunming 9
Vienna 9
Amman 8
Brno 8
Brussels 8
Campinas 8
Haiphong 8
Kuala Lumpur 8
Mexico City 8
Porto Alegre 8
Charlotte 7
El Paso 7
Philadelphia 7
Totale 8.242
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Nome #
Genome-wide association study identifies susceptibility loci for IgA nephropathy 487
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 286
Genetic drivers of kidney defects in the digeorge syndrome 284
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 264
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 254
Mutations in DSTYK and dominant urinary tract malformations. 245
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 244
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study 243
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. 240
Uromodulin storage diseases: clinical aspects and mechanisms. 237
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 237
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression 233
Autosomal Dominant tubulointerstitial Kidney Disease with Adult onset due to a novel Renin Mutation Mapping in the Mature protein 233
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 232
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 227
IgA nephropathy--the case for a genetic basis becomes stronger. 224
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds 223
Copy number disorders are a Common Cause of Congenital Kidney Malformations 216
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 215
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis 215
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 207
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 205
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 205
Uromodulin: from monogenic to multifactorial diseases. 178
Fetal abdominal wall defects 174
Chromosomal Microarray and Fetal Growth Restriction 161
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 159
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 157
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 151
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes 141
[Hyperuricemia and Gout] 134
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 131
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 131
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 123
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 122
[ADPKD: predictors of Renal Disease progression] 121
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 120
Alström syndrome: a rare and usually ignored cause of hereditary tubulo-interstitial nephritis. 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. 112
Genetic heterogeneity of isolated vesicoureteral reflux. 112
Genetics and nosological classification of renal cystic diseases. 110
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis 109
[The complex etiopathogenesis of focal segmental glomerulosclerosis] 102
Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis 102
[Molecular diagnosis of ADPKD] 101
ADPKD and Heart 99
Alström Syndrome: A Rare Cause of Hereditary Tubulointerstitial Nephritis Due to Defects in the Primary Cilia. 98
[ADPKD and intracranial aneurysms: indications for screening, follow-up and clinical management] 98
Il fenotipo renale non è diverso nelle forme familiari e sporadiche di Nefropatia a depositi di IgA (IgAN). 96
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 96
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 94
“Characterisation of the intracellular trafficking of uromodulin mutant isoforms”. 93
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 90
“Amiloidosi renale da Apolipoproteina (APOA-1: una misconosciuta ausa di nefrite tubulo-interstiziale”. 90
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 87
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 87
Utilità dello screening genetico in Sclerosi Tuberosa paucisintomatica 86
Congenital anomalies of the kidney and urinary tract: evaluation of the long term outcome based on a single centre experience 85
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA 84
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 84
“Caratterizzazione funzionale della dinamica di maturazione e trasporto intracellulare di isoforme mutate di uromodulina”. 83
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 82
Genetics of mesangial IgA nephropathy 82
Mapping the first locus for autosomal dominant non syndromic kidney hypoplasia on chromosome 1p31-35. 79
Abdominal wall defects 71
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 70
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.] 69
Variable Expressivity of HNF1B Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 69
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 67
Clinical Significance of the Cystic Phenotype in Alport Syndrome 67
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 66
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy 65
[Genetics and genetic counseling] 64
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features 63
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 59
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 59
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 56
Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA 55
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 51
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age 51
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 51
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 49
Type I hyperprolinemia: genotype/phenotype correlations 47
Exome analysis links kidney malformations to developmental disorders and reveals causal genes 45
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study 45
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 35
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 26
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME 13
Phenotypic Heterogeneity in Type IV Collagen-Associated Nephropathy: The Cystic Phenotype 12
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience 10
Sodium-Glucose Cotransporter-2–inhibitors in Adult Patients With Alport Syndrome 6
Totale 11.662
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Categoria #
all - tutte 46.701
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 46.701
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021367 0 0 0 0 0 0 0 0 0 169 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
2025/20263.428 279 431 308 485 354 299 586 154 250 282 0 0
Totale 11.662