Detalhe da pesquisa
1.
T-cell receptor diversity in minimal change disease in the NEPTUNE study.
Pediatr Nephrol
; 38(4): 1115-1126, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943576
2.
Linkage of familial essential tremor to chromosome 5q35.
Mov Disord
; 31(7): 1059-62, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918299
3.
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Hum Mol Genet
; 21(15): 3513-23, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543975
4.
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Am J Hum Genet
; 88(2): 201-6, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295283
5.
African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer's Disease Measured by pTau181.
J Alzheimers Dis
; 98(1): 221-229, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38393909
6.
Evaluating mitochondrial DNA variation in autism spectrum disorders.
Ann Hum Genet
; 77(1): 9-21, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23130936
7.
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
PLoS Genet
; 6(9): e1001130, 2010 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20885792
8.
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
Ann Hum Genet
; 76(5): 342-51, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22881374
9.
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
Neurogenetics
; 11(3): 291-303, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19921286
10.
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Ann Hum Genet
; 74(2): 97-109, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20070850
11.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ann Hum Genet
; 73(Pt 3): 263-73, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19456320
12.
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Mol Autism
; 6: 43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185613
13.
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
Mol Autism
; 5(1): 1, 2014 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24410847
14.
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Eur J Hum Genet
; 21(11): 1214-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23486545
15.
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
Age (Dordr)
; 35(4): 1467-77, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773346
16.
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
PLoS One
; 7(1): e29729, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22235333
17.
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.
Mol Autism
; 2(1): 1, 2011 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21247446
18.
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
PLoS One
; 6(10): e26049, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22016809
19.
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
Mol Autism
; 2(1): 18, 2011 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22050706
20.
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Eur J Hum Genet
; 19(10): 1074-81, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21654732