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1.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet;
101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
2.
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
3.
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Am J Hum Genet;
96(1): 153-61, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557779
4.
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
Am J Hum Genet;
94(6): 884-90, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814193
5.
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.
J Am Soc Nephrol;
27(7): 1970-83, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26534921
6.
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
J Am Soc Nephrol;
27(3): 814-23, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26150607
7.
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
BMC Bioinformatics;
17(1): 233, 2016 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27287006
8.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol;
26(6): 1279-89, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349199
9.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet;
101(6): 1034, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220675
10.
Integrin α3 mutations with kidney, lung, and skin disease.
N Engl J Med;
366(16): 1508-14, 2012 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22512483
11.
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
BMC Med Genet;
16: 35, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040326
12.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int;
85(4): 880-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257694
13.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatr Nephrol;
28(5): 751-7, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23242530
14.
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
Kidney Int;
81(2): 196-200, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21900877
15.
Erratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Pediatr Nephrol;
32(7): 1285, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28349212
16.
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Nephron Clin Pract;
120(3): c139-46, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22584503
17.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet;
5(1): e1000353, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165332
18.
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
J Am Soc Nephrol;
22(10): 1815-20, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21903995
19.
Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.
Pediatr Nephrol;
26(7): 1157-61, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21365190
20.
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Nephrol Dial Transplant;
25(9): 2970-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20172850