Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493768
2.
Characterization of K562 cells: uncovering novel chromosomes, assessing transferrin receptor expression, and probing pharmacological therapies.
Cell Mol Life Sci
; 80(9): 248, 2023 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578596
3.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35411967
4.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633740
5.
Sex-Specific Control of Human Heart Maturation by the Progesterone Receptor.
Circulation
; 143(16): 1614-1628, 2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682422
6.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
7.
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Mov Disord
; 37(12): 2427-2439, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148898
8.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267898
9.
Infanticide vs. inherited cardiac arrhythmias.
Europace
; 23(3): 441-450, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200177
10.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Mov Disord
; 35(9): 1675-1679, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32407596
11.
Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling.
Am J Physiol Heart Circ Physiol
; 316(1): H45-H60, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30387702
12.
Multicellular Transcriptional Analysis of Mammalian Heart Regeneration.
Circulation
; 136(12): 1123-1139, 2017 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733351
13.
Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data.
Mov Disord
; 38(12): 2320-2322, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113319
14.
Vascular histone deacetylation by pharmacological HDAC inhibition.
Genome Res
; 24(8): 1271-84, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24732587
15.
Improving understanding of chromatin regulatory proteins and potential implications for drug discovery.
Expert Rev Proteomics
; 13(4): 435-45, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26923902
16.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Ann Clin Transl Neurol
; 11(5): 1250-1266, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544359
17.
Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
Emerg Top Life Sci
; 7(3): 349-359, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37733280
18.
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.
Eur J Hum Genet
; 31(1): 122-124, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945246
19.
Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes.
J Clin Invest
; 133(4)2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633903
20.
Genetic and epigenetic events in diabetic wound healing.
Int Wound J
; 8(1): 12-21, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21159125