Detalhe da pesquisa
1.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Am J Hum Genet
; 109(8): 1484-1499, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896117
2.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Am J Hum Genet
; 109(1): 136-156, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890546
3.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
4.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proc Natl Acad Sci U S A
; 119(33): e2114734119, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947615
5.
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
Ann Hum Genet
; 88(1): 76-85, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37042117
6.
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Nephrol Dial Transplant
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544324
7.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598857
8.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273371
9.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Nephrol Dial Transplant
; 38(2): 271-282, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519781
10.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
J Am Soc Nephrol
; 33(3): 511-529, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228297
11.
UMOD and the architecture of kidney disease.
Pflugers Arch
; 474(8): 771-781, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35881244
12.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Am J Med Genet C Semin Med Genet
; 190(1): 109-120, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289079
13.
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Ann Hum Genet
; 86(3): 145-152, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888854
14.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212438
15.
Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease.
Kidney Int
; 100(6): 1282-1291, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34634361
17.
Molecular genetics of renal ciliopathies.
Biochem Soc Trans
; 49(3): 1205-1220, 2021 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960378
18.
Clinical and genetic spectra of kidney disease caused by REN mutations.
Kidney Int
; 98(6): 1397-1400, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276865
19.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Kidney Int
; 98(3): 717-731, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32450155
20.
Uromodulin processing in DNAJB11-kidney disease.
Kidney Int
; 105(2): 376-380, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38016513