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 May.
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 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240263
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.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Adrenomedullin disulfide bond mimetics uncover structural requirements for AM1 receptor activation.
J Pept Sci
; 25(3): e3147, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680847
12.
Adrenomedullin - new perspectives of a potent peptide hormone.
J Pept Sci
; 23(7-8): 472-485, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150464
13.
Fluorescently labeled adrenomedullin allows real-time monitoring of adrenomedullin receptor trafficking in living cells.
J Pept Sci
; 21(12): 905-12, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26767744
14.
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.
Clin Kidney J
; 17(1): sfad260, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38213489
15.
Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.
Nutrients
; 15(9)2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37432176
16.
Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.
Sci Rep
; 13(1): 9029, 2023 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270618
17.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Eur J Hum Genet
; 31(11): 1300-1308, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807342
18.
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Clin Kidney J
; 15(7): 1333-1339, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35756743
19.
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.
Genes Dis
; 9(5): 1301-1314, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35873018
20.
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
JHEP Rep
; 4(11): 100579, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246085