Detalhe da pesquisa
1.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
2.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
3.
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Am J Hum Genet
; 105(5): 947-958, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668704
4.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
5.
GENCODE reference annotation for the human and mouse genomes.
Nucleic Acids Res
; 47(D1): D766-D773, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30357393
6.
Landscape of transcription in human cells.
Nature
; 489(7414): 101-8, 2012 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955620
7.
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.
Genome Res
; 22(9): 1698-710, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955982
8.
GENCODE: the reference human genome annotation for The ENCODE Project.
Genome Res
; 22(9): 1760-74, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955987
9.
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
Hum Mutat
; 35(4): 447-51, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24515783
10.
Copy number variation modifies expression time courses.
Genome Res
; 21(1): 106-13, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21084671
11.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293053
12.
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
PLoS Biol
; 8(11): e1000543, 2010 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-21124890
13.
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
NPJ Genom Med
; 7(1): 38, 2022 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715439
14.
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Hum Mol Genet
; 17(16): 2486-95, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18469339
15.
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
Am J Med Genet A
; 152A(5): 1285-94, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425838
16.
Spatial distributions of Kv4 channels and KChip2 isoforms in the murine heart based on laser capture microdissection.
Cardiovasc Res
; 73(4): 739-49, 2007 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17289005
17.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
NPJ Genom Med
; 8(1): 9, 2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225732
18.
Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats.
J Clin Invest
; 113(5): 727-36, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14991071
19.
Low number of fixed somatic mutations in a long-lived oak tree.
Nat Plants
; 3(12): 926-929, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209081
20.
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).
Nat Commun
; 7: 12339, 2016 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27531712