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.
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
3.
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
4.
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
5.
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
6.
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
7.
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