Detalhe da pesquisa
1.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics;
299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38625590
2.
Post-obstructive diuresis after posterior urethral valve treatment in neonates: a retrospective cohort study.
Pediatr Nephrol;
39(2): 505-511, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37656311
3.
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
J Med Genet;
60(10): 993-998, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37080586
4.
A wave of deep intronic mutations in X-linked Alport syndrome.
Kidney Int;
104(2): 367-377, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37230224
5.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney Int;
104(2): 378-387, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37230223
6.
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
Clin Genet;
103(1): 114-118, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36089563
7.
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.
Clin Genet;
103(6): 693-698, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36705481
8.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat;
43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35005812
9.
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Nephrol Dial Transplant;
37(2): 239-254, 2022 01 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34264297
10.
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
Nephrol Dial Transplant;
37(12): 2351-2362, 2022 11 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35772019
11.
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.
Kidney Int;
99(2): 405-409, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33129895
12.
Cystinuria: clinical practice recommendation.
Kidney Int;
99(1): 48-58, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32918941
13.
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatr Nephrol;
36(8): 2361-2369, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33580824
14.
Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
Pediatr Nephrol;
36(5): 1165-1173, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33165639
15.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet;
101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29100091
16.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med;
376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28121514
17.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood;
132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29891534
18.
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
em Inglês
| MEDLINE
| ID: mdl-32198635
19.
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
em Inglês
| MEDLINE
| ID: mdl-32040628
20.
The use of fetal MRI for renal and urogenital tract anomalies.
Prenat Diagn;
40(1): 100-109, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31736096