Detalhe da pesquisa
1.
Kidney diseases caused by complement dysregulation: acquired, inherited, and still more to come.
Clin Dev Immunol
; 2012: 695131, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23227086
2.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet
; 5(1): e1000353, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165332
3.
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Nephrol Dial Transplant
; 25(9): 2970-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20172850
4.
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
Pediatr Nephrol
; 25(2): 261-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19876656
5.
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life.
Kidney Int
; 75(7): 669-71, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19282856
6.
Complete remission of nephrotic syndrome in an infant with focal segmental glomerulosclerosis: is it renin-angiotensin blockade?
Pediatr Nephrol
; 24(5): 1065-70, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18853198
7.
Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1.
Pediatr Nephrol
; 24(7): 1399-401, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19205749
8.
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Nephrol Dial Transplant
; 23(11): 3527-33, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18503012
9.
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Nephrol Dial Transplant
; 23(4): 1291-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18065803
10.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
J Clin Invest
; 121(5): 2013-24, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540551
11.
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Clin J Am Soc Nephrol
; 5(9): 1655-62, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20595692
12.
A novel TRPC6 mutation that causes childhood FSGS.
PLoS One
; 4(11): e7771, 2009 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19936226
13.
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 23(9): 1455-60, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18543005
14.
Focal segmental glomerulosclerosis is not a sufficient predictor of renal outcome in patients with membranous nephropathy.
Nephrol Dial Transplant
; 22(8): 2201-7, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17442739