Detalhe da pesquisa
1.
Global microRNA profiling in human urinary exosomes reveals novel disease biomarkers and cellular pathways for autosomal dominant polycystic kidney disease.
Kidney Int
; 98(2): 420-435, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622528
2.
Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.
Nephrol Dial Transplant
; 34(9): 1453-1460, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30165646
3.
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.
J Am Soc Nephrol
; 29(10): 2593-2600, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135240
4.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Diabetologia
; 61(5): 1027-1036, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29450569
5.
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Eur J Hum Genet
; 31(11): 1237-1250, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460656
6.
Real-life use of tolvaptan in ADPKD: a retrospective analysis of a large Canadian cohort.
Sci Rep
; 13(1): 22257, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097698
7.
Atypical Polycystic Kidney Disease as defined by Imaging.
Sci Rep
; 13(1): 2952, 2023 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807559
8.
Urinary epidermal growth factor/monocyte chemotactic peptide 1 ratio as non-invasive predictor of Mayo clinic imaging classes in autosomal dominant polycystic kidney disease.
J Nephrol
; 36(4): 987-997, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36342644
9.
Shared pathobiology identifies AMPK as a therapeutic target for obesity and autosomal dominant polycystic kidney disease.
Front Mol Biosci
; 9: 962933, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106024
10.
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
J Hum Genet
; 56(9): 682-4, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796138
11.
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Clin J Am Soc Nephrol
; 16(5): 790-799, 2021 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690722
12.
Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD.
Clin J Am Soc Nephrol
; 16(3): 374-383, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602752
13.
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Clin J Am Soc Nephrol
; 14(2): 213-223, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30647093
14.
Intrafamilial Variability of ADPKD.
Kidney Int Rep
; 4(7): 995-1003, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317121
15.
Molecular diagnosis of autosomal dominant polycystic kidney disease.
Expert Rev Mol Diagn
; 17(10): 885-895, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724316
16.
Genetics of GNE myopathy in the non-Jewish Persian population.
Eur J Hum Genet
; 24(2): 243-51, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25966635
17.
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
PLoS One
; 9(11): e112747, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25392994
18.
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
Eur J Hum Genet
; 21(3): 347-51, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781099
19.
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Gene
; 519(2): 295-7, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23454484
20.
Prenatal exposure to maternal cigarette smoking, amygdala volume, and fat intake in adolescence.
JAMA Psychiatry
; 70(1): 98-105, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22945562