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1.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet;
2019 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
2.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol;
30(2): 201-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655312
3.
Monogenic causes of chronic kidney disease in adults.
Kidney Int;
95(4): 914-928, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773290
4.
Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol;
29(1): 36-50, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29079659
5.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol;
29(8): 2123-2138, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
6.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol;
29(9): 2348-2361, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
7.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant;
2018 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295827
8.
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
J Am Soc Nephrol;
28(8): 2364-2376, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28381549
9.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Pediatr Nephrol;
32(12): 2273-2282, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28779239
10.
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
PLoS One;
13(1): e0191224, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351342
11.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol;
13(1): 53-62, 2018 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127259
12.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nat Commun;
9(1): 1960, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29773874
13.
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.
Mol Syndromol;
8(5): 272-277, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878612
14.
Methylene Blue (Tetramethylthionine Chloride) Influences the Mobility of Adult Neural Stem Cells: A Potentially Novel Therapeutic Mechanism of a Therapeutic Approach in the Treatment of Alzheimer's Disease.
J Alzheimers Dis;
57(2): 531-540, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28269766
15.
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
J Clin Invest;
127(12): 4257-4269, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29058690