Detalhe da pesquisa
1.
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Gastroenterology
; 166(5): 902-914, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101549
2.
Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.
J Am Soc Nephrol
; 34(9): 1521-1534, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37332102
3.
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Am J Hum Genet
; 102(5): 832-844, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706351
4.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
J Am Soc Nephrol
; 30(11): 2091-2102, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395617
5.
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
Hum Mutat
; 39(3): 378-382, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243290
6.
Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation.
BMC Nephrol
; 17(1): 125, 2016 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600725
7.
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Kidney360
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38689396
8.
An update on ductal plate malformations and fibropolycystic diseases of the liver.
Hum Pathol
; 132: 102-113, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777701
9.
Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management.
Semin Nephrol
; 43(4): 151434, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37996359
10.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Eur J Hum Genet
; 31(11): 1300-1308, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807342
11.
A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.
Kidney360
; 3(9): 1640-1651, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245662
12.
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Front Genet
; 13: 1021037, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276950
13.
Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated.
Proc Natl Acad Sci U S A
; 105(41): 15854-9, 2008 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-18836079
14.
Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.
Kidney360
; 1(10): 1068-1076, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33554127
15.
Altered natural killer cells in type 1 diabetic patients.
Diabetes
; 56(1): 177-85, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17192480
16.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
J Clin Invest
; 127(5): 1772-1785, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28375157
17.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
J Clin Invest
; 127(9): 3558, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28862642
18.
Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.
Kidney360
; 1(8): 720-723, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327334
19.
Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease.
Kidney Int Rep
; 5(5): 727-731, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32405593
20.
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.
Kidney Int Rep
; 5(1): 103-108, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922066