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
Inglês
| MEDLINE | ID: mdl-33508234
2.
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
Inglês
| MEDLINE | ID: mdl-36995132
3.
Vaccines and nephrotic syndrome: efficacy and safety.
Pediatr Nephrol
; 38(9): 2915-2928, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36512075
4.
Microplastics and Kidneys: An Update on the Evidence for Deposition of Plastic Microparticles in Human Organs, Tissues and Fluids and Renal Toxicity Concern.
Int J Mol Sci
; 24(18)2023 Sep 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37762695
5.
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Int J Mol Sci
; 23(3)2022 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35163085
6.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nephrol Dial Transplant
; 35(7): 1195-1202, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30403813
7.
Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial.
Pediatr Nephrol
; 35(6): 997-1003, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31993781
8.
A novel UMOD gene mutation associated with chronic kidney failure at a young age.
Clin Nephrol
; 92(3): 151-155, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29424336
9.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Ann Intern Med
; 168(2): 100-109, 2018 01 16.
Artigo
Inglês
| MEDLINE | ID: mdl-29204651
10.
Adverse events linked with the use of chimeric and humanized anti-CD20 antibodies in children with idiopathic nephrotic syndrome.
Br J Clin Pharmacol
; 84(6): 1238-1249, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29436729
11.
Mutations in DSTYK and dominant urinary tract malformations.
N Engl J Med
; 369(7): 621-9, 2013 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23862974
12.
A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.
PLoS Genet
; 9(2): e1003206, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23437001
13.
Copy-number disorders are a common cause of congenital kidney malformations.
Am J Hum Genet
; 91(6): 987-97, 2012 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23159250
14.
Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.
Biochim Biophys Acta
; 1830(12): 5494-502, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23612153
15.
Genotype-phenotype associations in WT1 glomerulopathy.
Kidney Int
; 85(5): 1169-78, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24402088
16.
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Nephrol Dial Transplant
; 29 Suppl 4: iv80-6, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25165188
17.
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
J Am Soc Nephrol
; 24(6): 967-77, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23661805
18.
Biologics and Non-Biologics Immunosuppressive Treatments for IgA Nephropathy in Both Adults and Children.
J Clin Med
; 13(9)2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38730994
19.
Novel biomarkers and pathophysiology of membranous nephropathy: PLA2R and beyond.
Clin Kidney J
; 17(1): sfad228, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38213493
20.
A critical view on autoantibodies in lupus nephritis: Concrete knowledge based on evidence.
Autoimmun Rev
; 23(5): 103535, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38552995