Detalhe da pesquisa
1.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain
; 139(Pt 3): 782-94, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912632
2.
Increased enhancer-promoter interactions during developmental enhancer activation in mammals.
Nat Genet
; 56(4): 675-685, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509385
3.
Conserved Cis-Acting Range Extender Element Mediates Extreme Long-Range Enhancer Activity in Mammals.
bioRxiv
; 2024 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38826394
4.
Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.
Endocr Metab Immune Disord Drug Targets
; 2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861032
5.
Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy.
Endocr Metab Immune Disord Drug Targets
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946348
6.
Salmonellosis in Children at a Portuguese Hospital: A Retrospective Study.
Acta Med Port
; 36(2): 96-104, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645922
7.
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.
Pediatr Neurol
; 147: 52-55, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562170
8.
Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.
Endocr Metab Immune Disord Drug Targets
; 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817524
9.
Rapid and Quantitative Functional Interrogation of Human Enhancer Variant Activity in Live Mice.
bioRxiv
; 2023 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38105996
10.
Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases.
Endocr Metab Immune Disord Drug Targets
; 2023 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37859320
11.
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Neuropediatrics
; 48(5): 382-384, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505671
12.
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation.
Science
; 378(6615): 68-78, 2022 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201590
13.
MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.
Front Cell Neurosci
; 15: 641264, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33815063
14.
Ophthalmoplegic migraine and infundibular dilatation of a cerebral artery.
Headache
; 48(9): 1372-4, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18631189
15.
ERRγ Preserves Brown Fat Innate Thermogenic Activity.
Cell Rep
; 22(11): 2849-2859, 2018 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29539415
16.
Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis.
Case Rep Pediatr
; 2016: 5823137, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27379191
17.
A novel postoperative immobilization model for murine Achilles tendon sutures.
Lab Anim
; 50(4): 308-11, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26678297
18.
ERRs Mediate a Metabolic Switch Required for Somatic Cell Reprogramming to Pluripotency.
Cell Stem Cell
; 16(5): 547-55, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865501
19.
Intestinal FXR agonism promotes adipose tissue browning and reduces obesity and insulin resistance.
Nat Med
; 21(2): 159-65, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25559344
20.
Methylome, transcriptome, and PPAR(γ) cistrome analyses reveal two epigenetic transitions in fat cells.
Epigenetics
; 9(9): 1195-206, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093444