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.
Maternal choline supplementation ameliorates Alzheimer's disease pathology by reducing brain homocysteine levels across multiple generations.
Mol Psychiatry
; 25(10): 2620-2629, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622336
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.
Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.
Behav Genet
; 49(4): 399-414, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30949922
7.
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
8.
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
9.
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
10.
FTO variation and early frontostriatal brain development in children.
Obesity (Silver Spring)
; 32(1): 156-165, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817330
11.
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Rare
; 22024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770537
12.
Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices.
Front Nutr
; 10: 1174441, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324730
13.
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
14.
Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro.
Biol Open
; 10(1)2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878879
15.
Leukocyte and cytokine variables in asymptomatic Pugs at genetic risk of necrotizing meningoencephalitis.
J Vet Intern Med
; 35(6): 2846-2852, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687084
16.
DNA Methylation and Expression Profiles of Whole Blood in Parkinson's Disease.
Front Genet
; 12: 640266, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33981329
17.
Family SES Is Associated with the Gut Microbiome in Infants and Children.
Microorganisms
; 9(8)2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34442687
18.
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Genome Med
; 13(1): 153, 2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645491
19.
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
20.
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