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1.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet;
104(1): 45-54, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609407
2.
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
J Am Soc Nephrol;
2019 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737270
3.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol;
30(2): 201-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655312
4.
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.
Kidney Int;
95(5): 1079-1090, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010479
5.
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Kidney Int;
96(4): 883-889, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472902
6.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol;
29(8): 2123-2138, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
7.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol;
29(9): 2348-2361, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
8.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int;
93(1): 204-213, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893421
9.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Am J Med Genet A;
2018 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079490
10.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant;
2018 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534211
11.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant;
2018 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295827
12.
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Pediatr Nephrol;
33(2): 305-314, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921387
13.
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
J Am Soc Nephrol;
28(8): 2364-2376, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28381549
14.
A small molecule screening to detect potential therapeutic targets in human podocytes.
Am J Physiol Renal Physiol;
312(1): F157-F171, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760769
15.
aPKCλ/ι and aPKCζ contribute to podocyte differentiation and glomerular maturation.
J Am Soc Nephrol;
24(2): 253-67, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23334392
16.
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
PLoS One;
13(1): e0191224, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351342
17.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol;
13(1): 53-62, 2018 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127259
18.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest;
128(10): 4313-4328, 2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30179222
19.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nat Commun;
9(1): 1960, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773874
20.
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
J Clin Invest;
127(12): 4257-4269, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058690