IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, Claudia
 Distribuzione geografica
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Continente #
NA - Nord America 1.828
EU - Europa 1.753
AS - Asia 494
AF - Africa 5
SA - Sud America 3
OC - Oceania 2
Totale 4.085
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Nazione #
US - Stati Uniti d'America 1.826
PL - Polonia 1.287
UA - Ucraina 180
CN - Cina 168
SG - Singapore 102
IT - Italia 96
HK - Hong Kong 83
DE - Germania 66
VN - Vietnam 59
TR - Turchia 42
FI - Finlandia 39
IE - Irlanda 31
GB - Regno Unito 25
ID - Indonesia 17
IN - India 16
FR - Francia 13
ES - Italia 4
BE - Belgio 3
CZ - Repubblica Ceca 3
JP - Giappone 3
AU - Australia 2
BR - Brasile 2
LU - Lussemburgo 2
MA - Marocco 2
MU - Mauritius 2
AT - Austria 1
AZ - Azerbaigian 1
BO - Bolivia 1
CA - Canada 1
EG - Egitto 1
HU - Ungheria 1
IL - Israele 1
LA - Repubblica Popolare Democratica del Laos 1
NL - Olanda 1
PA - Panama 1
RU - Federazione Russa 1
TH - Thailandia 1
Totale 4.085
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Città #
Warsaw 1.287
Fairfield 345
Woodbridge 194
Jacksonville 134
Houston 130
Seattle 130
Ashburn 128
Ann Arbor 127
Wilmington 114
Cambridge 110
Hong Kong 83
Singapore 78
Princeton 58
Dong Ket 54
Chandler 50
New York 49
Nanjing 42
Istanbul 40
Dublin 31
Beijing 27
Brescia 19
Dearborn 19
Helsinki 17
Jakarta 17
Nanchang 17
Phoenix 13
Serio 13
Des Moines 12
Hebei 11
San Diego 11
Romola 9
Shenyang 9
Jinan 8
Shanghai 8
Boardman 7
Frankfurt am Main 7
Tianjin 7
Changsha 6
Hangzhou 6
Jiaxing 6
Lappeenranta 6
Los Angeles 6
Verona 6
Vimercate 6
Ho Chi Minh City 5
London 5
Milan 5
Florence 4
Kunming 4
Lanzhou 4
Baltimore 3
Bonn 3
Brussels 3
Chiswick 3
Cremona 3
Falls Church 3
Kilburn 3
Kochi 3
Rome 3
San Francisco 3
Tokyo 3
Vicenza 3
Allston 2
Barcelona 2
Bengaluru 2
Brno 2
Delhi 2
Falkenstein 2
Guangzhou 2
Haikou 2
Kocaeli 2
Luxembourg 2
Modena 2
Norwalk 2
Orange 2
Reston 2
Salé 2
Washington 2
Zhengzhou 2
Amsterdam 1
Augusta 1
Bangalore 1
Bangkok 1
Bermondsey 1
Bhubaneswar 1
Bologna 1
Budapest 1
Carpenedolo 1
Haifa 1
Hounslow 1
Hyderabad 1
Kafr ash Shaykh 1
Krasnoyarsk 1
Madrid 1
Mainz 1
Melbourne 1
Olomouc 1
Padova 1
Panama City 1
Piacenza 1
Totale 3.575
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Nome #
Genetic drivers of kidney defects in the digeorge syndrome 245
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 231
Genome-wide association study identifies susceptibility loci for IgA nephropathy 203
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 195
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 191
IgA nephropathy--the case for a genetic basis becomes stronger. 190
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 189
Mutations in DSTYK and dominant urinary tract malformations. 187
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 184
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 180
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 172
Copy number disorders are a Common Cause of Congenital Kidney Malformations 170
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 147
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 146
Uromodulin: from monogenic to multifactorial diseases. 146
Fetal abdominal wall defects 136
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 119
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 114
Chromosomal Microarray and Fetal Growth Restriction 110
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 96
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 89
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 84
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 81
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 78
[ADPKD: predictors of Renal Disease progression] 65
ADPKD and Heart 57
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 47
[Molecular diagnosis of ADPKD] 47
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 45
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 32
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 24
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 18
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis 15
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 15
Abdominal wall defects 12
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 11
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 9
Type I hyperprolinemia: genotype/phenotype correlations 9
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 9
[Genetics and genetic counseling] 8
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 8
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 8
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 8
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 7
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 7
Clinical Significance of the Cystic Phenotype in Alport Syndrome 7
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 6
Totale 4.157
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Categoria #
all - tutte 17.827
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 17.827
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020921 0 0 0 0 120 154 117 144 124 111 79 72
2020/2021850 38 79 78 104 58 88 42 80 69 104 35 75
2021/2022254 19 43 11 10 3 10 20 16 28 20 18 56
2022/2023183 32 1 2 14 13 51 0 16 25 3 13 13
2023/2024359 18 22 14 18 9 63 13 12 93 7 21 69
2024/2025200 6 6 16 92 80 0 0 0 0 0 0 0
Totale 4.157