Detalhe da pesquisa
1.
Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.
Pediatr Nephrol
; 2024 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38904753
2.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
3.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
4.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
5.
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Am J Med Genet A
; 185(10): 3005-3011, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145744
6.
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Nephrol Dial Transplant
; 36(2): 237-246, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097957
7.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475988
8.
Rituximab versus cyclophosphamide as first steroid-sparing agent in childhood frequently relapsing and steroid-dependent nephrotic syndrome.
Pediatr Nephrol
; 35(8): 1445-1453, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337638
9.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Hum Genet
; 138(10): 1105-1115, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230195
10.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534211
11.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol
; 29(8): 2123-2138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
12.
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 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
13.
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
14.
HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome.
Am J Kidney Dis
; 71(3): 399-406, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29277510
15.
Outcome of pediatric acute kidney injury: a multicenter prospective cohort study.
Pediatr Nephrol
; 33(2): 335-340, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28917005
16.
A case of urinary bladder agenesis and bilateral ectopic ureters: a case report.
BMC Urol
; 18(1): 83, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30257657
17.
Efficiency of Using Pediatrics Emergency Services and Triage Evaluation.
Pediatr Emerg Care
; 34(6): 417-421, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29851918
18.
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
19.
Is high-dose cholecalciferol justified in children with chronic kidney disease who failed low-dose maintenance therapy?
Pediatr Nephrol
; 28(6): 933-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23338053
20.
Renal impairment in children with posterior urethral valves.
Pediatr Nephrol
; 28(6): 927-31, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263712