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.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Gastroenterology
; 166(5): 902-914, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101549
3.
The genetics of cystinuria - an update and critical reevaluation.
Curr Opin Nephrol Hypertens
; 33(2): 231-237, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240263
4.
Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance.
Kidney Int
; 104(5): 882-885, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37863636
5.
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
6.
Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution.
J Am Soc Nephrol
; 33(4): 699-717, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031570
7.
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Am J Med Genet C Semin Med Genet
; 190(3): 279-288, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923129
8.
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
9.
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
10.
Cystinuria: clinical practice recommendation.
Kidney Int
; 99(1): 48-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918941
11.
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
12.
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
13.
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
J Am Soc Nephrol
; 31(6): 1296-1313, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444357
14.
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Kidney Int
; 98(4): 958-969, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32505465
15.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28089251
16.
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
17.
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.
J Biol Chem
; 293(39): 15243-15255, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111592
18.
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
19.
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Hum Genet
; 138(3): 211-219, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30778725
20.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet
; 98(6): 1228-1234, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27210743