Detalhe da pesquisa
1.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Proc Natl Acad Sci U S A
; 120(22): e2211087120, 2023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216524
2.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
3.
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
4.
The retinal phenotype in primary hyperoxaluria type 2 and 3.
Pediatr Nephrol
; 38(5): 1485-1490, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260161
5.
Consensus draft of the native mouse podocyte-ome.
Am J Physiol Renal Physiol
; 323(2): F182-F197, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796460
6.
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int
; 102(2): 405-420, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643372
7.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet
; 104(1): 45-54, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609407
8.
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Nephrol Dial Transplant
; 37(12): 2496-2504, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022790
9.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol
; 32(11): 2885-2899, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607910
10.
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Kidney Int
; 100(5): 1092-1100, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34153329
11.
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
12.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Kidney Int
; 100(3): 650-659, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33940108
13.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am J Hum Genet
; 103(5): 808-816, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388404
14.
Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis.
J Am Soc Nephrol
; 31(3): 544-559, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047005
15.
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
16.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat
; 41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821646
17.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
18.
Hypomagnesemia is underestimated in children with HNF1B mutations.
Pediatr Nephrol
; 35(10): 1877-1886, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32388583
19.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Kidney Int
; 96(6): 1389-1399, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685312
20.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med
; 374(19): 1853-63, 2016 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120771