Detalhe da pesquisa
1.
Navigation of Prenatal Care With Sex Discordance Between Cell-free DNA and Ultrasound Findings.
Clin Obstet Gynecol
; 66(3): 616-623, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650671
2.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304524
3.
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
Hum Mutat
; 39(6): 834-840, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29573043
4.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29235198
5.
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.
Hum Mol Genet
; 25(8): 1528-42, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008886
6.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Am J Hum Genet
; 96(4): 675-81, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817015
7.
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
Methods
; 113: 139-151, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876679
8.
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Hum Mutat
; 35(11): 1363-71, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168514
9.
A pilot randomized control trial of topical capsaicin as adjunctive therapy for nausea and vomiting of pregnancy.
Am J Obstet Gynecol MFM
; 5(7): 100997, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271593
10.
Effect of Novel Breastfeeding Smartphone Applications on Breastfeeding Rates.
Breastfeed Med
; 16(8): 614-623, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33826418
11.
Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over.
PLoS Genet
; 3(8): e139, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17784788
12.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
J Clin Invest
; 129(12): 5568-5583, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31557132
13.
A novel AARS mutation in a family with dominant myeloneuropathy.
Neurology
; 84(20): 2040-7, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904691
14.
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell Rep
; 12(7): 1169-83, 2015 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26257172
15.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Nat Genet
; 47(8): 926-32, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26168012
16.
AKAP9 is essential for spermatogenesis and sertoli cell maturation in mice.
Genetics
; 194(2): 447-57, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23608191
17.
Ecteinascidin 743 interferes with the activity of EWS-FLI1 in Ewing sarcoma cells.
Neoplasia
; 13(2): 145-53, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21403840
18.
Identification of an inhibitor of the EWS-FLI1 oncogenic transcription factor by high-throughput screening.
J Natl Cancer Inst
; 103(12): 962-78, 2011 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21653923