Detalhe da pesquisa
1.
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Genome Res
; 33(9): 1439-1454, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798116
2.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
3.
Incipient genome erosion and metabolic streamlining for antibiotic production in a defensive symbiont.
Proc Natl Acad Sci U S A
; 118(17)2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33883280
4.
Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.
Hum Mol Genet
; 30(6): 411-429, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564861
5.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
6.
Association Study of Exon Variants in the NF-κB and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Am J Hum Genet
; 99(5): 1163-1171, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745838
7.
A genome-wide association study for mastitis resistance in phenotypically well-characterized Holstein dairy cattle using a selective genotyping approach.
Immunogenetics
; 71(1): 35-47, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269158
8.
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
Ann Neurol
; 84(2): 234-245, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014611
9.
Lung eosinophilia induced by house dust mites or ovalbumin is modulated by nicotinic receptor α7 and inhibited by cigarette smoke.
Am J Physiol Lung Cell Mol Physiol
; 315(4): L553-L562, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29975102
10.
Complex signatures of natural selection at GYPA.
Hum Genet
; 137(2): 151-160, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29362874
11.
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
Am J Med Genet A
; 176(5): 1207-1211, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681093
12.
Patterns of host gene expression associated with harboring a foregut microbial community.
BMC Genomics
; 18(1): 697, 2017 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874116
13.
Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont.
Mol Biol Evol
; 33(8): 1957-66, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27189544
14.
Classification Tree Analysis as a Method for Uncovering Relations Between CHRNA5A3B4 and CHRNB3A6 in Predicting Smoking Progression in Adolescent Smokers.
Nicotine Tob Res
; 19(4): 410-416, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613882
15.
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Ann Neurol
; 77(4): 668-74, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612243
16.
CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt.
Nicotine Tob Res
; 18(5): 637-41, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26541911
17.
CYP2A6 Longitudinal Effects in Young Smokers.
Nicotine Tob Res
; 18(2): 196-203, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25744963
18.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
19.
A novel human-infection-derived bacterium provides insights into the evolutionary origins of mutualistic insect-bacterial symbioses.
PLoS Genet
; 8(11): e1002990, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23166503
20.
Gut microbes of mammalian herbivores facilitate intake of plant toxins.
Ecol Lett
; 17(10): 1238-46, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25040855