Detalhe da pesquisa
1.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554502
2.
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
Clin Chem Lab Med
; 55(6): 809-816, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002029
3.
Bone metabolism and arterial stiffness after renal transplantation.
Kidney Blood Press Res
; 39(6): 507-15, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25531154
4.
Ambulatory arterial stiffness index in children after kidney transplantation.
Pediatr Transplant
; 17(7): 598-604, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23855604
5.
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
Pediatr Nephrol
; 28(10): 2061-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23800802
6.
Cardiovascular risk assessment in children with chronic kidney disease.
Pediatr Nephrol
; 28(6): 875-84, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23070276
7.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 28(5): 751-7, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242530
8.
Cardiovascular risk assessment in children following kidney transplantation.
Pediatr Transplant
; 16(6): 564-76, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22694162
9.
Effects of bone and mineral metabolism on arterial elasticity in chronic renal failure.
Pediatr Nephrol
; 24(12): 2413-20, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763629
10.
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Nat Genet
; 46(3): 299-304, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24509478
11.
Measurement of pulse wave velocity in children and young adults: a comparative study using three different devices.
Hypertens Res
; 34(11): 1197-202, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796122
12.
The 83,557insA variant of the gene coding 11ß-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome.
J Steroid Biochem Mol Biol
; 123(1-2): 79-84, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21111044