Detalhe da pesquisa
1.
PKD1 mosaicism associated with severe renal, hepatic, and vascular phenotype.
Clin Nephrol;
98(6): 296-300, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36278297
2.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Kidney Int;
98(3): 717-731, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32450155
3.
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Nephrol Dial Transplant;
32(5): 830-837, 2017 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27387476
4.
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney Int;
88(1): 17-27, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25786098
5.
Lanreotide Reduces Liver Volume, But Might Not Improve Muscle Wasting or Weight Loss, in Patients With Symptomatic Polycystic Liver Disease.
Clin Gastroenterol Hepatol;
13(13): 2353-9.e1, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26073493
6.
Paradoxical response to furosemide in uromodulin-associated kidney disease.
Nephrol Dial Transplant;
30(2): 330-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25540096
7.
Development and validation of a polycystic liver disease complaint-specific assessment (POLCA).
J Hepatol;
61(5): 1143-50, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24996047
8.
Rituximab for minimal-change nephrotic syndrome in adulthood: predictive factors for response, long-term outcomes and tolerance.
Nephrol Dial Transplant;
29(11): 2084-91, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24920841
9.
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative.
Nephrol Dial Transplant;
29 Suppl 4: iv26-32, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25165183
10.
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.
Nephrol Dial Transplant;
28(3): 505-17, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23234755
11.
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Nat Genet;
36(6): 575-7, 2004 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15133510
12.
Autosomal dominant polycystic kidney disease is associated with central and nephrogenic defects in osmoregulation.
Kidney Int;
82(10): 1121-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22718190
13.
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.
Kidney Int;
81(8): 779-83, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22237748
14.
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.
Kidney Int;
81(5): 494-501, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22166847
15.
Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities.
Nephrol Dial Transplant;
27(10): 3746-51, 2012 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23114901
16.
Association of PKD2 (polycystin 2) mutations with left-right laterality defects.
Am J Kidney Dis;
58(3): 456-60, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21719175
17.
Limited Performance of Estimated Total Kidney Volume for Follow-up of ADPKD.
Kidney Int Rep;
6(11): 2821-2829, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34805634
18.
Carbohydrate antigen 19-9 as a diagnostic marker for hepatic cyst infection in autosomal dominant polycystic kidney disease.
Am J Kidney Dis;
55(5): 916-22, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20189277
19.
Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.
Blood;
112(12): 4542-5, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18658028
20.
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Nephrol Dial Transplant;
25(12): 4097-102, 2010 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20798123