Detalhe da pesquisa
1.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol
; 39(6): 1847-1858, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196016
2.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379543
3.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051115
4.
A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.
Kidney Int
; 100(3): 621-635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33865885
5.
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Ren Fail
; 43(1): 62-70, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349102
6.
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
7.
Hypomagnesemia is underestimated in children with HNF1B mutations.
Pediatr Nephrol
; 35(10): 1877-1886, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388583
8.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Nephrol Dial Transplant
; 34(6): 981-991, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773598
9.
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Pediatr Nephrol
; 34(6): 1065-1075, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666461
10.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Ann Intern Med
; 168(2): 100-109, 2018 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29204651
11.
[Does Gordon's syndrome always manifest as hypertension? - a case report of one family]. / Czy zespól Gordona zawsze przebiega w postaci nadcisnienia tetniczego? opis przypadku jednej rodziny.
Pol Merkur Lekarski
; 47(281): 193-196, 2019 Nov 29.
Artigo
em Polonês
| MEDLINE | ID: mdl-31812975
12.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrol Dial Transplant
; 33(1): 85-94, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27708066
13.
Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families.
Ren Fail
; 38(10): 1759-1762, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27764983
14.
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
15.
Copy-number disorders are a common cause of congenital kidney malformations.
Am J Hum Genet
; 91(6): 987-97, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159250
16.
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Nephrol Dial Transplant
; 30(4): 636-44, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25477417
17.
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Pediatr Nephrol
; 30(6): 931-43, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480730
18.
Dent disease in children: diagnostic and therapeutic considerations.
Clin Nephrol
; 84(4): 222-30, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26308078
19.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Eur J Hum Genet
; 31(1): 105-111, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319675
20.
Hypertensive nephropathy in children - do we diagnose early enough?
Blood Press
; 21(4): 233-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424480