Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
2.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
3.
Posttransplant nephrotic syndrome resulting from NELL1-positive membranous nephropathy.
Am J Transplant
; 21(9): 3175-3179, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866674
4.
Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1.
J Med Genet
; 2020 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381729
5.
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Genet Med
; 22(8): 1374-1383, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398770
6.
Autochthonous West Nile virus infection outbreak in humans, Leipzig, Germany, August to September 2020.
Euro Surveill
; 25(46)2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33213686
7.
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Kidney Int
; 96(1): 222-230, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31027891
8.
Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin.
BMC Med Genet
; 17(1): 73, 2016 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27733133
9.
Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives.
Semin Nephrol
; 43(4): 151437, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968178
10.
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation.
Front Immunol
; 14: 1094862, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36776892
11.
Letermovir Rescue Therapy in Kidney Transplant Recipients with Refractory/Resistant CMV Disease.
J Clin Med
; 13(1)2023 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38202107
12.
The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study.
PLoS One
; 17(9): e0273671, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054109
13.
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics.
Front Genet
; 12: 682565, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34249099
14.
Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies.
Clin Kidney J
; 10(6): 742-746, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29225802