Detalhe da pesquisa
1.
Diagnosis and management of primary hyperoxalurias: best practices.
Pediatr Nephrol
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753085
2.
PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
Kidney Int
; 103(1): 207-217, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007597
3.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
4.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571463
5.
Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria.
Kidney Int
; 101(3): 626-634, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34481803
6.
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
7.
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
8.
Incidence of Urinary Tract Infections in Newborns with Spina Bifida-Is Antibiotic Prophylaxis Necessary?
J Urol
; 206(1): 126-132, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683941
9.
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
Kidney Int
; 97(3): 567-579, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959358
10.
Kidney Function Surveillance in the National Spina Bifida Patient Registry: A Retrospective Cohort Study.
J Urol
; 204(3): 578-586, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141805
11.
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
12.
Baseline Urinary Tract Imaging in Infants Enrolled in the UMPIRE Protocol for Children with Spina Bifida.
J Urol
; 201(6): 1193-1198, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730412
13.
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
14.
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
15.
Imaging in the diagnosis of pediatric urolithiasis.
Pediatr Radiol
; 47(1): 5-16, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27815617
16.
Design and Methodological Considerations of the Centers for Disease Control and Prevention Urologic and Renal Protocol for the Newborn and Young Child with Spina Bifida.
J Urol
; 196(6): 1728-1734, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27475969
17.
Characteristics and survival of patients with end stage renal disease and spina bifida in the United States renal data system.
J Urol
; 193(2): 558-64, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167993
18.
Nonrenal indications for continuous renal replacement therapy: A report from the Prospective Pediatric Continuous Renal Replacement Therapy Registry Group.
Pediatr Crit Care Med
; 13(5): e299-304, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22805158
19.
Treatment of primary hyperoxaluria type 1.
Clin Kidney J
; 15(Suppl 1): i9-i13, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35592620
20.
Pathophysiology and Treatment of Enteric Hyperoxaluria.
Clin J Am Soc Nephrol
; 16(3): 487-495, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32900691