Detalhe da pesquisa
1.
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Genet Med
; 20(2): 190-201, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771254
2.
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
J Med Genet
; 54(1): 26-37, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530400
3.
Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
Am J Kidney Dis
; 65(1): 122-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25446019
4.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiol
; 122(1-2): 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434854
5.
Characterization of Renal Injury and Inflammation in an Experimental Model of Intravascular Hemolysis.
Front Immunol
; 9: 179, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545789
6.
Intravascular hemolysis activates complement via cell-free heme and heme-loaded microvesicles.
JCI Insight
; 3(12)2018 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29925688
7.
Loss of tubular creatinine secretion as the only sign of tubular proximal cell dysfunction in light chain proximal tubulopathy: A case report.
Medicine (Baltimore)
; 95(26): e3815, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27367983
8.
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
J Bone Miner Res
; 31(3): 498-513, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26426912
9.
[Diagnostic value of IgG subtypes in membranous nephropathy: A case report]. / Place de l'étude des sous-classes d'IgG dans les glomérulonéphrites extramembraneuses : à propos d'un cas.
Nephrol Ther
; 11(3): 169-72, 2015 Jun.
Artigo
em Francês
| MEDLINE | ID: mdl-25921735
10.
Crystalline light chain proximal tubulopathy with chronic renal failure and silicone gel breast implants: 1 case report.
Hum Pathol
; 46(1): 165-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454480
11.
Heterogeneous histologic and clinical evolution in 3 cases of dense deposit disease with long-term follow-up.
Hum Pathol
; 45(11): 2326-33, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260719
12.
Aspergillus arthritis and organ transplantation.
Clin Kidney J
; 5(3): 237-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26069774