Detalhe da pesquisa
1.
GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.
Hum Genomics
; 18(1): 41, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38654324
2.
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
3.
Hypertension in children with congenital anomalies of the kidney and urinary tract.
Pediatr Nephrol
; 39(4): 1185-1192, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37910243
4.
Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).
Pediatr Nephrol
; 39(2): 357-369, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468646
5.
Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families.
Pediatr Nephrol
; 39(4): 1065-1075, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656310
6.
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
7.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
8.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Hum Genet
; 142(1): 73-88, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066768
9.
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
10.
Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2PB/+ Gen1PB/+ mice.
Biochem Biophys Res Commun
; 653: 153-160, 2023 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36870240
11.
Early predictive factors for progression to kidney failure in infants with severe congenital anomalies of the kidney and urinary tract.
Pediatr Nephrol
; 38(4): 1057-1066, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951131
12.
Maternal risk factors in offspring with congenital anomalies of the kidney and urinary tract in Asian women.
Pediatr Nephrol
; 38(9): 3065-3070, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37052690
13.
Predicting outcomes in children with congenital anomalies of the kidney and urinary tract.
Pediatr Nephrol
; 38(10): 3407-3415, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133803
14.
Congenital anomalies of the kidney and urinary tract (CAKUT) in critically ill infants: a multicenter cohort study.
Pediatr Nephrol
; 38(1): 161-172, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467155
15.
Predictive factors for survival in patients with oligohydramnios secondary to antenatal kidney disease.
Pediatr Nephrol
; 38(6): 1783-1792, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409365
16.
Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.
Pediatr Nephrol
; 38(12): 3963-3973, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36867265
17.
Antenatally detected urinary tract dilatation: long-term outcome.
Pediatr Nephrol
; 38(10): 3221-3227, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920569
18.
Amniotic fluid content in children with kidney and urinary tract anomalies determines pre- and postnatal development.
Pediatr Nephrol
; 38(11): 3635-3643, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37219638
19.
Fetal uropathies: pre- and postnatal imaging, management and follow-up.
Pediatr Radiol
; 53(4): 610-620, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35840694
20.
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.
Am J Med Genet C Semin Med Genet
; 190(3): 325-343, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208064