Detalhe da pesquisa
1.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
2.
Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?
Pediatr Nephrol
; 39(6): 1685-1707, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728640
3.
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
J Am Soc Nephrol
; 34(6): 1105-1119, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995132
4.
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Int J Mol Sci
; 25(3)2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38338714
5.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med
; 380(2): 142-151, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586318
6.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
J Am Soc Nephrol
; 32(4): 805-820, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597122
7.
Podocytes: The Role of Lysosomes in the Development of Nephrotic Syndrome.
Am J Pathol
; 190(6): 1172-1174, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32305354
8.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
9.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
10.
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
Ann Intern Med
; 170(1): 11-21, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476936
11.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Ann Intern Med
; 168(2): 100-109, 2018 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29204651
12.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(6): 1034, 2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220675
13.
The complement system in the pathogenesis and progression of kidney diseases: What doesn't kill you makes you older.
Eur J Intern Med
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461065
14.
Effect of music therapy intervention on anxiety and pain during percutaneous renal biopsy: a randomized controlled trial.
Clin Kidney J
; 16(12): 2721-2727, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38046004
15.
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
Kidney Int Rep
; 8(8): 1638-1647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547535
16.
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Nat Commun
; 14(1): 2481, 2023 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120605
17.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
medRxiv
; 2023 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577628
18.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Nat Commun
; 14(1): 7836, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38036523
19.
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
Orphanet J Rare Dis
; 16(1): 374, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481500
20.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(4): 764, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816350