Detalhe da pesquisa
1.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
2.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(3): 451-458, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886343
3.
Resource: A multi-species multi-timepoint transcriptome database and webpage for the pineal gland and retina.
J Pineal Res
; 69(3): e12673, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533862
4.
Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.
Prenat Diagn
; 36(4): 312-20, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26824862
5.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(5): 866, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100096
6.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Am J Hum Genet
; 101(4): 638, 2017 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985497
7.
Circadian changes in long noncoding RNAs in the pineal gland.
Proc Natl Acad Sci U S A
; 109(33): 13319-24, 2012 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22864914
8.
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Cancers (Basel)
; 16(8)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38672657
9.
MicroRNAs in the pineal gland: miR-483 regulates melatonin synthesis by targeting arylalkylamine N-acetyltransferase.
J Biol Chem
; 287(30): 25312-24, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22908386
10.
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Eur J Hum Genet
; 31(3): 353-359, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207621
11.
Osteogenic Commitment of Human Periodontal Ligament Cells Is Predetermined by Methylation, Chromatin Accessibility and Expression of Key Transcription Factors.
Cells
; 11(7)2022 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35406691
12.
Crx broadly modulates the pineal transcriptome.
J Neurochem
; 119(2): 262-74, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21797868
13.
The anti-tumour activity of DNA methylation inhibitor 5-aza-2'-deoxycytidine is enhanced by the common analgesic paracetamol through induction of oxidative stress.
Cancer Lett
; 501: 172-186, 2021 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359448
14.
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.
J Clin Med
; 9(11)2020 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33143217
15.
Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.
J Mol Diagn
; 22(9): 1151-1161, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553884
16.
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.
Br J Ophthalmol
; 2019 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30745306
17.
mir-374-5p, mir-379-5p, and mir-503-5p Regulate Proliferation and Hypertrophic Differentiation of Growth Plate Chondrocytes in Male Rats.
Endocrinology
; 159(3): 1469-1478, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29390136
18.
Pigment composition and adaptation in free-living and symbiotic strains of Acaryochloris marina.
FEMS Microbiol Ecol
; 61(1): 65-73, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17466026
19.
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
Eur J Hum Genet
; 25(4): 416-422, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28120840
20.
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Mol Diagn Ther
; 21(6): 685-692, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28986857