IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, CLAUDIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.258
EU - Europa 3.849
AS - Asia 2.744
SA - Sud America 543
Continente sconosciuto - Info sul continente non disponibili 127
AF - Africa 83
OC - Oceania 40
Totale 12.644
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Nazione #
US - Stati Uniti d'America 5.123
PL - Polonia 2.023
SG - Singapore 880
CN - Cina 764
BR - Brasile 455
IT - Italia 440
UA - Ucraina 384
HK - Hong Kong 353
VN - Vietnam 253
DE - Germania 208
FI - Finlandia 208
FR - Francia 163
GB - Regno Unito 112
BD - Bangladesh 104
TR - Turchia 96
RU - Federazione Russa 84
JP - Giappone 73
IE - Irlanda 66
CA - Canada 63
IN - India 55
ID - Indonesia 44
NL - Olanda 42
AU - Australia 40
AR - Argentina 37
MX - Messico 32
AT - Austria 21
IQ - Iraq 20
NG - Nigeria 17
ZA - Sudafrica 16
EC - Ecuador 15
ES - Italia 15
CZ - Repubblica Ceca 14
BE - Belgio 13
MY - Malesia 13
SA - Arabia Saudita 13
CO - Colombia 12
SE - Svezia 12
KR - Corea 10
MA - Marocco 10
JO - Giordania 8
PA - Panama 8
TW - Taiwan 8
DZ - Algeria 7
KE - Kenya 7
UZ - Uzbekistan 7
JM - Giamaica 6
LT - Lituania 6
PH - Filippine 6
PK - Pakistan 6
RO - Romania 6
VE - Venezuela 6
CR - Costa Rica 5
ET - Etiopia 5
PE - Perù 5
TN - Tunisia 5
TT - Trinidad e Tobago 5
UY - Uruguay 5
AZ - Azerbaigian 4
CH - Svizzera 4
EG - Egitto 4
NP - Nepal 4
PS - Palestinian Territory 4
RS - Serbia 4
TH - Thailandia 4
AO - Angola 3
CL - Cile 3
EE - Estonia 3
GR - Grecia 3
IL - Israele 3
LU - Lussemburgo 3
NO - Norvegia 3
AL - Albania 2
BB - Barbados 2
BO - Bolivia 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
HN - Honduras 2
HR - Croazia 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
MU - Mauritius 2
NI - Nicaragua 2
OM - Oman 2
PR - Porto Rico 2
PT - Portogallo 2
PY - Paraguay 2
QA - Qatar 2
SN - Senegal 2
SV - El Salvador 2
BF - Burkina Faso 1
BW - Botswana 1
CG - Congo 1
CI - Costa d'Avorio 1
CW - ???statistics.table.value.countryCode.CW??? 1
DM - Dominica 1
GD - Grenada 1
GY - Guiana 1
HU - Ungheria 1
KG - Kirghizistan 1
Totale 12.511
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Città #
Warsaw 2.018
Fairfield 544
Singapore 473
Ashburn 466
Hong Kong 345
Woodbridge 319
San Jose 306
Jacksonville 277
Houston 246
Seattle 219
Cambridge 197
Wilmington 172
Ann Arbor 162
Beijing 156
The Dalles 150
Helsinki 141
Council Bluffs 138
New York 136
Los Angeles 125
Princeton 124
Chandler 82
Lauterbourg 82
Dong Ket 80
Nanjing 80
Istanbul 76
Columbus 69
Dublin 67
Ho Chi Minh City 62
Brescia 55
Phoenix 52
Dallas 48
São Paulo 46
Santa Clara 44
Buffalo 43
Moscow 39
Hanoi 38
Milan 35
Jakarta 31
Nanchang 31
Chicago 30
Des Moines 30
Redondo Beach 30
Tokyo 29
Dearborn 27
Rome 27
Nuremberg 26
San Francisco 26
Hebei 25
Shanghai 23
Munich 22
San Diego 22
London 20
Changsha 19
Montreal 18
Utrecht 18
Atlanta 17
Frankfurt am Main 17
Shenyang 17
Abuja 16
Brooklyn 16
Rio de Janeiro 16
Orem 15
Jinan 14
Lappeenranta 14
Tianjin 14
Turku 14
Serio 13
Verona 13
Boardman 12
Brasília 12
Denver 12
Hangzhou 12
Jiaxing 12
Toronto 12
Ankara 11
Guangzhou 11
Salvador 11
Springfield 11
Stockholm 11
Boston 10
Curitiba 10
Düsseldorf 10
Johannesburg 10
Melbourne 10
Mumbai 10
Romola 10
Vancouver 10
Baghdad 9
Belo Horizonte 9
Kunming 9
Lubbock 9
Mexico City 9
Philadelphia 9
Vienna 9
Amman 8
Brno 8
Brussels 8
Campinas 8
Charlotte 8
Haiphong 8
Totale 8.680
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Nome #
Genome-wide association study identifies susceptibility loci for IgA nephropathy 547
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 314
Genetic drivers of kidney defects in the digeorge syndrome 296
Mutations in DSTYK and dominant urinary tract malformations. 273
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 267
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 267
Uromodulin storage diseases: clinical aspects and mechanisms. 253
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study 252
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 252
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression 250
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 250
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. 248
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 246
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 241
Autosomal Dominant tubulointerstitial Kidney Disease with Adult onset due to a novel Renin Mutation Mapping in the Mature protein 241
IgA nephropathy--the case for a genetic basis becomes stronger. 233
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds 233
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 227
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis 225
Copy number disorders are a Common Cause of Congenital Kidney Malformations 225
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 225
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 211
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 211
Uromodulin: from monogenic to multifactorial diseases. 193
Fetal abdominal wall defects 177
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 168
Chromosomal Microarray and Fetal Growth Restriction 166
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 162
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 159
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes 148
[Hyperuricemia and Gout] 145
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 141
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 134
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 134
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 133
[ADPKD: predictors of Renal Disease progression] 131
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 130
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 124
Alström syndrome: a rare and usually ignored cause of hereditary tubulo-interstitial nephritis. 121
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis 120
Genetics and nosological classification of renal cystic diseases. 119
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. 119
Genetic heterogeneity of isolated vesicoureteral reflux. 119
Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis 114
Alström Syndrome: A Rare Cause of Hereditary Tubulointerstitial Nephritis Due to Defects in the Primary Cilia. 110
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 109
[The complex etiopathogenesis of focal segmental glomerulosclerosis] 107
[Molecular diagnosis of ADPKD] 106
ADPKD and Heart 105
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 103
Il fenotipo renale non è diverso nelle forme familiari e sporadiche di Nefropatia a depositi di IgA (IgAN). 102
“Characterisation of the intracellular trafficking of uromodulin mutant isoforms”. 102
[ADPKD and intracranial aneurysms: indications for screening, follow-up and clinical management] 101
“Amiloidosi renale da Apolipoproteina (APOA-1: una misconosciuta ausa di nefrite tubulo-interstiziale”. 100
Utilità dello screening genetico in Sclerosi Tuberosa paucisintomatica 95
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA 94
Congenital anomalies of the kidney and urinary tract: evaluation of the long term outcome based on a single centre experience 93
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 92
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 92
“Caratterizzazione funzionale della dinamica di maturazione e trasporto intracellulare di isoforme mutate di uromodulina”. 90
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 89
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 89
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features 88
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 88
Mapping the first locus for autosomal dominant non syndromic kidney hypoplasia on chromosome 1p31-35. 86
Genetics of mesangial IgA nephropathy 85
Clinical Significance of the Cystic Phenotype in Alport Syndrome 80
Abdominal wall defects 77
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.] 76
Variable Expressivity of HNF1B Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 76
[Genetics and genetic counseling] 75
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy 75
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 75
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 74
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 70
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 68
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age 67
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 63
Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA 61
Type I hyperprolinemia: genotype/phenotype correlations 59
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 58
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 55
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 55
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study 52
Exome analysis links kidney malformations to developmental disorders and reveals causal genes 49
Tolvaptan in Autosomal Dominant Polycystic Kidney Disease (ADPKD): a multicenter real life Italian experience 46
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 43
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 40
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 39
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 37
Sodium-Glucose Cotransporter-2–inhibitors in Adult Patients With Alport Syndrome 34
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME 26
Phenotypic Heterogeneity in Type IV Collagen-Associated Nephropathy: The Cystic Phenotype 23
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience 21
Totale 12.644
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Categoria #
all - tutte 53.813
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 53.813
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022370 0 0 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
2025/20263.795 279 431 308 485 354 299 586 154 250 336 183 130
2026/2027615 193 160 262 0 0 0 0 0 0 0 0 0
Totale 12.644