IRIS Institutional Research Information System - OPENBS Open Archive UniBS

IZZI, Claudia
 Distribuzione geografica
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Continente #
NA - Nord America 1.756
EU - Europa 1.714
AS - Asia 332
AF - Africa 3
SA - Sud America 3
OC - Oceania 2
Totale 3.810
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Nazione #
US - Stati Uniti d'America 1.754
PL - Polonia 1.287
UA - Ucraina 180
CN - Cina 164
HK - Hong Kong 83
DE - Germania 66
IT - Italia 63
VN - Vietnam 59
FI - Finlandia 38
IE - Irlanda 31
GB - Regno Unito 25
FR - Francia 13
IN - India 13
ES - Italia 4
TR - Turchia 4
BE - Belgio 3
SG - Singapore 3
AU - Australia 2
BR - Brasile 2
JP - Giappone 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 3.810
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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
Princeton 58
Dong Ket 54
Chandler 50
New York 49
Nanjing 42
Dublin 31
Beijing 27
Dearborn 19
Brescia 17
Nanchang 17
Helsinki 16
Phoenix 13
Serio 13
Des Moines 12
Hebei 11
San Diego 11
Shenyang 9
Jinan 8
Frankfurt am Main 7
Tianjin 7
Changsha 6
Hangzhou 6
Jiaxing 6
Lappeenranta 6
Verona 6
Vimercate 6
Ho Chi Minh City 5
London 5
Milan 5
Boardman 4
Kunming 4
Lanzhou 4
Shanghai 4
Baltimore 3
Bonn 3
Brussels 3
Chiswick 3
Falls Church 3
Kilburn 3
Kochi 3
Los Angeles 3
Rome 3
San Francisco 3
Vicenza 3
Barcelona 2
Delhi 2
Falkenstein 2
Guangzhou 2
Haikou 2
Istanbul 2
Kocaeli 2
Norwalk 2
Orange 2
Reston 2
Tokyo 2
Washington 2
Zhengzhou 2
Amsterdam 1
Augusta 1
Bangalore 1
Bangkok 1
Bermondsey 1
Budapest 1
Haifa 1
Hounslow 1
Hyderabad 1
Kafr ash Shaykh 1
Krasnoyarsk 1
Madrid 1
Mainz 1
Melbourne 1
Panama City 1
Piacenza 1
Pisa 1
Redmond 1
Redwood City 1
Sucre 1
Sydney 1
São Paulo 1
Taiyuan 1
Taizhou 1
Toronto 1
Tower Hamlets 1
Venezia 1
Vienna 1
Vientiane 1
Walnut 1
Wandsworth 1
Totale 3.410
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Nome #
Genetic drivers of kidney defects in the digeorge syndrome 240
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) 225
Genome-wide association study identifies susceptibility loci for IgA nephropathy 193
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 188
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy 185
The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia. 185
IgA nephropathy--the case for a genetic basis becomes stronger. 183
Mutations in DSTYK and dominant urinary tract malformations. 183
Renal outcome in patients with congenital anomalies of the kidney and urinary tract. 179
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 175
The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. 167
Copy number disorders are a Common Cause of Congenital Kidney Malformations 165
Uromodulin: from monogenic to multifactorial diseases. 142
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens 141
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. 141
Fetal abdominal wall defects 133
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis 114
Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 109
Chromosomal Microarray and Fetal Growth Restriction 103
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations 91
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. 84
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis 80
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 77
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. 75
[ADPKD: predictors of Renal Disease progression] 58
ADPKD and Heart 51
[Molecular diagnosis of ADPKD] 41
Prenatal ultrasound diagnosis of cavitation of the ganglionic eminence 38
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 27
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype 20
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 20
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 11
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature 6
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 6
Abdominal wall defects 5
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis 5
Type I hyperprolinemia: genotype/phenotype correlations 5
Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis 4
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes 4
[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease] 4
[Genetics and genetic counseling] 3
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations 3
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations. 3
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome 3
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 3
Totale 3.878
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Categoria #
all - tutte 14.173
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 14.173
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019177 0 0 0 0 0 0 0 0 0 0 99 78
2019/20201.358 126 81 86 144 120 154 117 144 124 111 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
2023/2024280 18 22 14 18 9 63 13 12 93 7 11 0
Totale 3.878