Detalhe da pesquisa
1.
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
2.
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
3.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232676
4.
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
5.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
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.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
8.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872655
9.
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Nephrol Dial Transplant
; 36(2): 237-246, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097957
10.
Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis.
Pediatr Nephrol
; 36(2): 463-471, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32715379
11.
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
12.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475988
13.
Ribavirin therapy of hepatitis E infection may cause hyporegenerative anemia in pediatric renal transplant patients.
Pediatr Transplant
; 22(4): e13195, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665156
14.
A Novel Function for P2Y2 in Myeloid Recipient-Derived Cells during Graft-versus-Host Disease.
J Immunol
; 195(12): 5795-804, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26538394
15.
Correction to: Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis.
Pediatr Nephrol
; 36(12): 4015, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34553238
16.
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Kidney Int Rep
; 6(2): 460-471, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615071
17.
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Kidney Int Rep
; 6(2): 472-483, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33615072
18.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Sci Adv
; 7(1)2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523862
19.
A CRISPR-based assay for the detection of opportunistic infections post-transplantation and for the monitoring of transplant rejection.
Nat Biomed Eng
; 4(6): 601-609, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32284553