Detalhe da pesquisa
1.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int
; 104(2): 367-377, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37230224
2.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int
; 104(2): 378-387, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37230223
3.
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
Clin Genet
; 103(1): 114-118, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36089563
4.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35005812
5.
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
Kidney Int
; 99(2): 405-409, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33129895
6.
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatr Nephrol
; 36(8): 2361-2369, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33580824
7.
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Pediatr Nephrol
; 35(6): 1125-1128, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32198635
8.
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.
Pediatr Nephrol
; 35(6): 1033-1040, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32040628
9.
Treatment and outcome of congenital nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 458-467, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29474669
10.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 28(10): 2901-2914, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28566479
11.
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
Clin Chem Lab Med
; 55(6): 809-816, 2017 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28002029
12.
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
J Am Soc Nephrol
; 27(3): 722-9, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26139440
13.
Absence of cell surface expression of human ACE leads to perinatal death.
Hum Mol Genet
; 23(6): 1479-91, 2014 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24163131
14.
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
J Am Soc Nephrol
; 25(12): 2740-51, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24854265
15.
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Hum Mutat
; 35(2): 178-86, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24227627
16.
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int
; 86(3): 589-99, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24670410
17.
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kidney Int Rep
; 9(4): 973-981, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38765578
18.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 28(5): 751-7, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23242530
19.
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
iScience
; 26(7): 107171, 2023 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37456840
20.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22095942