Detalhe da pesquisa
1.
Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis.
Kidney Int
; 103(3): 565-579, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442540
2.
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.
J Am Soc Nephrol
; 32(7): 1682-1695, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33863784
3.
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
4.
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
5.
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Am J Hum Genet
; 96(1): 153-61, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557779
6.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Am J Hum Genet
; 94(6): 884-90, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814193
7.
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Pediatr Nephrol
; 32(3): 467-476, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766458
8.
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.
J Am Soc Nephrol
; 27(7): 1970-83, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26534921
9.
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
J Am Soc Nephrol
; 27(3): 814-23, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26150607
10.
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
BMC Bioinformatics
; 17(1): 233, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287006
11.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol
; 26(6): 1279-89, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349199
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.
Integrin α3 mutations with kidney, lung, and skin disease.
N Engl J Med
; 366(16): 1508-14, 2012 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22512483
14.
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
BMC Med Genet
; 16: 35, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040326
15.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int
; 85(4): 880-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257694
16.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 28(5): 751-7, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242530
17.
An integrated organoid omics map extends modeling potential of kidney disease.
Nat Commun
; 14(1): 4903, 2023 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580326
18.
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Kidney Int
; 81(2): 196-200, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21900877
19.
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Pediatr Nephrol
; 32(7): 1285, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28349212
20.
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Nephron Clin Pract
; 120(3): c139-46, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22584503