Detalhe da pesquisa
1.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
2.
Mutations in DSTYK and dominant urinary tract malformations.
N Engl J Med
; 369(7): 621-9, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23862974
3.
Copy-number disorders are a common cause of congenital kidney malformations.
Am J Hum Genet
; 91(6): 987-97, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23159250
4.
Phenotypic expansion of DGKE-associated diseases.
J Am Soc Nephrol
; 25(7): 1408-14, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24511134
5.
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Kidney Int
; 80(4): 389-96, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697813
6.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(4): 764, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816350
7.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(1): 117-127, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578417
8.
Hyperinsulinemia and insulin resistance, early cardiovascular risk factors in children with chronic kidney disease.
Blood Purif
; 26(6): 518-25, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987465
9.
[Familial Focal Segmental Glomerulosclerosis, a vademecum for clinical nephrologist]. / Glomerulosclerosi Focale e Segmentaria Familiare: vademecum per il nefrologo clinico.
G Ital Nefrol
; 32 Suppl 642015.
Artigo
em Italiano
| MEDLINE | ID: mdl-26479060
10.
Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective study.
Clin Ther
; 26(9): 1411-8, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15531003
11.
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33.
Am J Hum Genet
; 80(3): 539-49, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17273976
12.
Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.
Nephrol Dial Transplant
; 21(9): 2452-63, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16822791
13.
Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypes.
Hum Mol Genet
; 14(16): 2357-67, 2005 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16002416
14.
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure.
Pediatr Nephrol
; 18(3): 225-9, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12644913
15.
Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children.
Nephrol Dial Transplant
; 17(3): 413-21, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11865086
16.
Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.
Kidney Int
; 63(2): 686-95, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12631135
17.
Broadening the spectrum of diseases related to podocin mutations.
J Am Soc Nephrol
; 14(5): 1278-86, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707396
18.
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.
J Am Soc Nephrol
; 12(12): 2742-2746, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11729243
19.
Lack of cardiac anomalies in children with NPHS2 mutations.
Nephrol Dial Transplant
; 22(5): 1477-9, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17218332