Detalhe da pesquisa
1.
Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.
Pediatr Nephrol
; 39(5): 1429-1434, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057433
2.
Recurrent urinary tract infection genetic risk: a systematic review and gene network analysis.
Int Urogynecol J
; 35(2): 259-271, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37917182
3.
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
4.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571463
5.
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Mol Genet Metab
; 139(3): 107626, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354892
6.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Am J Med Genet A
; 191(8): 2083-2091, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213061
7.
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
8.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
9.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Nephrol Dial Transplant
; 37(10): 1833-1843, 2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473308
10.
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
11.
Genomic Risk Factors for Urethral Stricture: A Systematic Review and Gene Network Analysis.
Urology
; 184: 251-258, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160764
12.
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Urolithiasis
; 51(1): 101, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561200
13.
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Eur Urol Open Sci
; 44: 106-112, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36185583
14.
The evolving landscape of monogenic nephrolithiasis and therapeutic innovations.
Nat Rev Urol
; 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632353