Detalhe da pesquisa
1.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854360
2.
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1582-1584, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345026
3.
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1381-1390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012068
4.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1391-1398, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012069
5.
Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression.
PLoS Genet
; 9(2): e1003205, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23437000
6.
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Nat Genet
; 38(12): 1397-405, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17086182
7.
Mutations in RAI1 associated with Smith-Magenis syndrome.
Nat Genet
; 33(4): 466-8, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12652298
8.
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
9.
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
Am J Med Genet A
; 155A(1): 38-49, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204209
10.
Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis.
Dev Biol
; 334(2): 418-28, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19660449
11.
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
12.
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Nephrol Dial Transplant
; 23(11): 3527-33, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18503012
13.
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Nephrol Dial Transplant
; 23(4): 1291-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18065803
14.
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Genet Test
; 12(1): 67-73, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18373405
15.
The 24th international Mammalian Genome Conference meeting report.
Mamm Genome
; 22(3-4): 148-55, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21298271
16.
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
J Clin Invest
; 121(5): 2013-24, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540551
17.
A novel TRPC6 mutation that causes childhood FSGS.
PLoS One
; 4(11): e7771, 2009 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19936226
18.
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 23(9): 1455-60, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18543005
19.
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Mamm Genome
; 19(4): 246-62, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18343975
20.
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Pediatrics
; 119(4): e907-19, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17371932