E-LIB Suche - Ergebnisse für: Izzi, Claudia

1

Clinical Significance of the Cystic Phenotype in Alport Syn..:

Zeni, Letizia ; Mescia, Federica ; Toso, Diego...
American Journal of Kidney Diseases. , 2024

Link: https://doi.org/10.1053/..

2

Monoallelic pathogenic IFT140 variants are a common cause o..:

Dordoni, Chiara ; Zeni, Letizia ; Toso, Diego...
Clinical Kidney Journal. 17 (2024) 2 - p. , 2024

Link: https://doi.org/10.1093/..

3

#5542 THE ITALIAN REGISTRY OF POLYCYSTIC KIDNEY DISEASE (RI..:

Cortinovis, Roberta ; Dordoni, Chiara ; Mescia, Federica...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

4

#4215 MONOALLELIC IFT140-RELATED POLYCYSTIC KIDNEY DISEASE ..:

Dordoni, Chiara ; Zeni, Letizia ; Mazza, Cinzia...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

5

Identification of bi‐allelic LFNG variants in three patient..:

Lecca, Mauro ; Bedeschi, Maria Francesca ; Izzi, Claudia...
Clinical Genetics. 104 (2023) 2 - p. 230-237 , 2023

Link: https://doi.org/10.1111/..

6

#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR-..:

Zeni, Letizia ; Mescia, Federica ; Toso, Diego...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

7

Leader peptide or pro-segment mutants of renin are misroute..:

Schaeffer, Céline ; De Fusco, Maurizio ; Pasqualetto, Elena...
Disease Models & Mechanisms. 16 (2023) 6 - p. , 2023

Link: https://doi.org/10.1242/..

8

Autosomal Dominant Tubulointerstitial Kidney Disease: An Em..:

Econimo, Laura ; Schaeffer, Celine ; Zeni, Letizia...
Kidney International Reports. 7 (2022) 11 - p. 2332-2344 , 2022

Link: https://doi.org/10.1016/..

9

Lessons From the Clinic: ADPKD Genetic Test Unraveling Seve..:

Izzi, Claudia ; Dordoni, Chiara ; Delbarba, Elisa...
Kidney International Reports. 7 (2022) 4 - p. 895-898 , 2022

Link: https://doi.org/10.1016/..

10

Expanding the variability of the ADPKD-GANAB clinical pheno..:

Delbarba, Elisa ; Econimo, Laura ; Dordoni, Chiara...
Journal of Nephrology. 35 (2021) 2 - p. 645-652 , 2021

Link: https://doi.org/10.1007/..

11

Variable Expressivity of HNF1B Nephropathy, From Renal Cyst..:

Izzi, Claudia ; Dordoni, Chiara ; Econimo, Laura...
Kidney International Reports. 5 (2020) 12 - p. 2341-2350 , 2020

Link: https://doi.org/10.1016/..

12

P0057ADPKD: COMPLEX GENOTYPES MAY EXPLAIN SEVERE PHENOTYPE ..:

Scolari, Francesco ; Dallera, Nadia ; Mazza, Cinzia...
Nephrology Dialysis Transplantation. 35 (2020) Supplement_3 - p. , 2020

Link: https://doi.org/10.1093/..

13

P0074EXPANDING THE VARIABILITY OF THE ADPKD-GANAB CLINICAL ..:

Izzi, Claudia ; Scolari, Francesco ; Dallera, Nadia...
Nephrology Dialysis Transplantation. 35 (2020) Supplement_3 - p. , 2020

Link: https://doi.org/10.1093/..

14

Outcomes in pregnancies with a confined placental mosaicism..:

Grati, Francesca Romana ; Ferreira, Jose ; Benn, Peter...
Genetics in Medicine. 22 (2020) 2 - p. 309-316 , 2020

Link: https://doi.org/10.1038/..

15

Genetic and Clinical Predictors of Age of ESKD in Individua..:

Kidd, Kendrah ; Vylet'al, Petr ; Schaeffer, Céline...
Kidney International Reports. 5 (2020) 9 - p. 1472-1485 , 2020

Link: https://doi.org/10.1016/..