Detalhe da pesquisa
1.
FGF12 copy number variant associated with epileptic encephalopathy.
Clin Genet
; 106(1): 114-115, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715525
2.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
3.
Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy.
Exp Eye Res
; 195: 108043, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376470
4.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Hum Genet
; 138(11-12): 1409-1417, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748968
5.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
6.
Diabetic Macular Edema: Pathophysiology and Novel Therapeutic Targets.
Ophthalmology
; 122(7): 1375-94, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25935789
7.
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Clin Genet
; 96(2): 183-185, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31236915
8.
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Rare
; 22024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770537
9.
The role of monocyte subsets in myocutaneous revascularization.
J Surg Res
; 183(2): 963-75, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23498341
10.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells
; 12(10)2023 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408271
11.
Pericyte-derived sphingosine 1-phosphate induces the expression of adhesion proteins and modulates the retinal endothelial cell barrier.
Arterioscler Thromb Vasc Biol
; 31(12): e107-15, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21940944
12.
Improved methods for RNAseq-based alternative splicing analysis.
Sci Rep
; 11(1): 10740, 2021 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031440
13.
Do Genomic Factors Play a Role in Diabetic Retinopathy?
J Clin Med
; 9(1)2020 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947513
14.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754643
15.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Nat Commun
; 10(1): 708, 2019 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755616
16.
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Semin Pediatr Neurol
; 26: 28-32, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961512
17.
Association of increased levels of MCP-1 and cathepsin-D in young onset type 2 diabetes patients (T2DM-Y) with severity of diabetic retinopathy.
J Diabetes Complications
; 31(5): 804-809, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28336215
18.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
F1000Res
; 6: 553, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663785
19.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789
20.
Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.
F1000Res
; 5: 2269, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27781091