Detalhe da pesquisa
1.
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
2.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710394
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.
Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations.
Ear Hear
; 41(4): 983-989, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985533
5.
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
6.
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness.
Hum Genet
; 137(6-7): 459-470, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29955957
7.
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
8.
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
9.
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
10.
Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain.
Nat Commun
; 12(1): 1537, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750804
11.
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease.
Acta Neuropathol Commun
; 8(1): 76, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493431
12.
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.
Mol Genet Genomic Med
; 7(12): e995, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595699
13.
Methods for CpG Methylation Array Profiling Via Bisulfite Conversion.
Methods Mol Biol
; 1706: 233-254, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423802
14.
Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways.
Clin Epigenetics
; 10(1): 93, 2018 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30005700
15.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Epigenomics
; 9(11): 1373-1386, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967789
16.
Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.
Neurol Genet
; 3(3): e153, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28534045