IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, Claudia
 Distribuzione geografica
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Continente #
EU - Europa 3.281
NA - Nord America 3.175
AS - Asia 1.296
SA - Sud America 167
AF - Africa 10
OC - Oceania 5
Totale 7.934
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Nazione #
US - Stati Uniti d'America 3.143
PL - Polonia 2.005
SG - Singapore 379
UA - Ucraina 364
CN - Cina 359
HK - Hong Kong 295
IT - Italia 285
DE - Germania 166
BR - Brasile 153
FI - Finlandia 118
VN - Vietnam 91
TR - Turchia 78
RU - Federazione Russa 75
FR - Francia 65
GB - Regno Unito 65
IE - Irlanda 63
IN - India 28
ID - Indonesia 25
AT - Austria 17
CA - Canada 13
NL - Olanda 11
MX - Messico 10
CZ - Repubblica Ceca 9
ES - Italia 8
JP - Giappone 8
BE - Belgio 7
AR - Argentina 6
BD - Bangladesh 6
AU - Australia 5
CH - Svizzera 4
IQ - Iraq 4
MA - Marocco 4
PE - Perù 4
AZ - Azerbaigian 3
LU - Lussemburgo 3
NO - Norvegia 3
PA - Panama 3
PH - Filippine 3
PK - Pakistan 3
SA - Arabia Saudita 3
TT - Trinidad e Tobago 3
EG - Egitto 2
HR - Croazia 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MU - Mauritius 2
RO - Romania 2
SE - Svezia 2
UZ - Uzbekistan 2
AL - Albania 1
BO - Bolivia 1
CO - Colombia 1
CR - Costa Rica 1
EC - Ecuador 1
EE - Estonia 1
GR - Grecia 1
GT - Guatemala 1
HU - Ungheria 1
IL - Israele 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KW - Kuwait 1
LK - Sri Lanka 1
LV - Lettonia 1
MY - Malesia 1
OM - Oman 1
TH - Thailandia 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 7.934
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Città #
Warsaw 2.004
Fairfield 540
Woodbridge 319
Hong Kong 295
Jacksonville 262
Singapore 252
Houston 236
Ashburn 226
Seattle 213
Cambridge 186
Wilmington 171
Ann Arbor 161
Princeton 120
Beijing 104
Dong Ket 80
Chandler 75
Nanjing 75
New York 75
Istanbul 73
Dublin 63
Helsinki 57
Brescia 43
Moscow 38
Nanchang 30
Des Moines 28
Dearborn 26
Jakarta 25
Hebei 22
Nuremberg 22
San Diego 22
Los Angeles 21
Phoenix 21
Milan 18
Shenyang 17
London 16
Changsha 14
Shanghai 14
The Dalles 14
Jinan 13
Serio 13
Tianjin 13
Frankfurt am Main 12
Lappeenranta 12
Turku 12
Verona 12
Rome 11
São Paulo 11
Jiaxing 10
Romola 10
Boardman 9
Düsseldorf 9
Kunming 9
San Francisco 9
Hangzhou 8
Toronto 8
Vienna 8
Campinas 7
Ho Chi Minh City 7
Munich 6
Vimercate 6
Brasília 5
Brooklyn 5
Brussels 5
Curitiba 5
Lanzhou 5
Santa Clara 5
Bologna 4
Brno 4
Chiswick 4
Florence 4
Fort Lauderdale 4
Fukuoka 4
Genoa 4
Iesi 4
Mexico City 4
Norwalk 4
Olomouc 4
Redwood City 4
Rio de Janeiro 4
Washington 4
Albano Laziale 3
Augusta 3
Baltimore 3
Belo Horizonte 3
Bonn 3
Boston 3
Boves 3
Burlington 3
Cremona 3
Delhi 3
Falls Church 3
Giussano 3
Kilburn 3
Kocaeli 3
Kochi 3
Lancaster 3
Lauterbourg 3
Lima 3
Luxembourg 3
Orange 3
Totale 6.339
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Nome #
Genetic drivers of kidney defects in the digeorge syndrome 252
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 243
Genome-wide association study identifies susceptibility loci for IgA nephropathy 221
Uromodulin storage diseases: clinical aspects and mechanisms. 211
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 209
Familial aggregation of primary glomerulonephritis in an Italian population isolate: Valtrompia study 208
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. 206
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 204
IgA nephropathy--the case for a genetic basis becomes stronger. 200
Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds 200
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 198
IgA nephropathy: the presence of familial disease does not confer an increased risk for progression 195
Mutations in DSTYK and dominant urinary tract malformations. 195
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 193
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 191
Autosomal Dominant tubulointerstitial Kidney Disease with Adult onset due to a novel Renin Mutation Mapping in the Mature protein 191
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 190
Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis 187
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 181
Copy number disorders are a Common Cause of Congenital Kidney Malformations 179
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 166
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 157
Uromodulin: from monogenic to multifactorial diseases. 156
Fetal abdominal wall defects 145
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. 137
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 130
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 127
Chromosomal Microarray and Fetal Growth Restriction 125
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy. 105
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 104
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 100
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes 98
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 92
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 92
Genetic heterogeneity of isolated vesicoureteral reflux. 90
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 83
[Hyperuricemia and Gout] 82
[ADPKD: predictors of Renal Disease progression] 82
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis 78
ADPKD and Heart 71
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. 69
Utilità dello screening genetico in Sclerosi Tuberosa paucisintomatica 67
Testicular involvement is a hallmark of Apo A-I Leu75Pro mutation amyloidosis 67
“Amiloidosi renale da Apolipoproteina (APOA-1: una misconosciuta ausa di nefrite tubulo-interstiziale”. 64
Il fenotipo renale non è diverso nelle forme familiari e sporadiche di Nefropatia a depositi di IgA (IgAN). 63
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 61
Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. 61
Alström syndrome: a rare and usually ignored cause of hereditary tubulo-interstitial nephritis. 61
“Characterisation of the intracellular trafficking of uromodulin mutant isoforms”. 61
[Molecular diagnosis of ADPKD] 61
Alström Syndrome: A Rare Cause of Hereditary Tubulointerstitial Nephritis Due to Defects in the Primary Cilia. 60
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 59
[The complex etiopathogenesis of focal segmental glomerulosclerosis] 59
Mapping the first locus for autosomal dominant non syndromic kidney hypoplasia on chromosome 1p31-35. 58
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA 54
Congenital anomalies of the kidney and urinary tract: evaluation of the long term outcome based on a single centre experience 53
[ADPKD and intracranial aneurysms: indications for screening, follow-up and clinical management] 51
Genetics of mesangial IgA nephropathy 49
Variable Expressivity of HNF1B Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 48
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates.] 46
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 46
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 42
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 39
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 35
Clinical Significance of the Cystic Phenotype in Alport Syndrome 30
Abdominal wall defects 28
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 28
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy 28
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 27
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 26
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 25
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 23
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 22
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 22
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 21
[Genetics and genetic counseling] 19
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 19
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features 19
Type I hyperprolinemia: genotype/phenotype correlations 19
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 15
Outcomes in Pregnancies with a Confined Placental Mosaicism and Implications for Prenatal Screening Using Cell-Free DNA 14
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 14
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age 14
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 12
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study 11
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 10
Totale 8.054
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Categoria #
all - tutte 36.958
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 36.958
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020119 0 0 0 0 0 0 0 0 0 0 0 119
2020/20211.581 60 135 116 185 81 237 106 148 150 168 82 113
2021/2022486 37 87 17 18 5 17 33 42 34 39 37 120
2022/2023312 66 1 5 22 25 88 1 30 37 3 18 16
2023/2024581 23 39 29 35 20 93 21 19 163 10 28 101
2024/20251.376 9 10 20 163 136 129 146 61 129 112 301 160
Totale 8.054