Detalhe da pesquisa
1.
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Int J Mol Sci
; 25(2)2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256266
2.
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
PLoS Genet
; 12(4): e1005848, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120463
3.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940506
4.
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Mol Genet Metab
; 114(3): 388-96, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542617
5.
Hepatoblastoma in a patient with methylmalonic aciduria.
Am J Med Genet A
; 167A(3): 635-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691417
6.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Hum Mutat
; 35(11): 1285-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25130867
7.
Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome.
BMC Gastroenterol
; 14: 181, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25332060
8.
Irritable bowel syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants.
Dig Dis Sci
; 59(7): 1392-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24500451
9.
Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
Eur J Pediatr
; 173(7): 967-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24863632
10.
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
Am J Med Genet A
; 161A(8): 2020-3, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813926
11.
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Front Neurol
; 14: 1151835, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37234784
12.
Synchrony 2022: The Role of Neuroinflammation in Behavioral Exacerbations in Autism Spectrum Disorder.
J Pers Med
; 13(7)2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511746
13.
Synchrony 2022: Epilepsy and Seizures in Autism Spectrum Disorder Roundtable.
J Pers Med
; 13(3)2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983738
14.
A Personalized Approach to Evaluating and Treating Autism Spectrum Disorder.
J Pers Med
; 12(2)2022 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207636
15.
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
Mol Genet Metab
; 102(2): 149-52, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093335
16.
High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series.
BMC Neurol
; 11: 102, 2011 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21846334
17.
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Hum Mutat
; 31(8): E1632-51, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20574985
18.
Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study.
BMC Neurol
; 10: 10, 2010 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-20109231
19.
State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians.
Semin Pediatr Neurol
; 34: 100804, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446438
20.
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
J Pers Med
; 11(1)2020 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33383702