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1.
Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Clin Exp Ophthalmol;
51(4): 300-312, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36882936
2.
Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Maori and Polynesian reveals novel changes and a common founder mutation.
Clin Exp Ophthalmol;
45(9): 901-910, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28488341
3.
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.
Development;
140(6): 1330-41, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23406904
4.
A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
Ophthalmology;
123(4): 709-22, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26786512
5.
Prediction of promoters and enhancers using multiple DNA methylation-associated features.
BMC Genomics;
16 Suppl 7: S11, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26099324
6.
Characterization of tissue-specific differential DNA methylation suggests distinct modes of positive and negative gene expression regulation.
BMC Genomics;
16: 49, 2015 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-25652663
7.
Integrative analysis of tissue-specific methylation and alternative splicing identifies conserved transcription factor binding motifs.
Nucleic Acids Res;
41(18): 8503-14, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23887936
8.
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
Ophthalmic Genet;
38(6): 537-543, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28394649
9.
Differential DNA methylation identified in the blood and retina of AMD patients.
Epigenetics;
10(8): 698-707, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26067391
10.
A novel methyl-binding domain protein enrichment method for identifying genome-wide tissue-specific DNA methylation from nanogram DNA samples.
Epigenetics Chromatin;
6(1): 17, 2013 Jun 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-23759032
11.
Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration.
Cell Rep;
5(6): 1527-35, 2013 Dec 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-24373284
12.
Use of laser capture microdissection for analysis of retinal mRNA/miRNA expression and DNA methylation.
Methods Mol Biol;
884: 289-304, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22688715
13.
Cell-specific DNA methylation patterns of retina-specific genes.
PLoS One;
7(3): e32602, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22403679
14.
Defects in imprinting and genome-wide DNA methylation are not common in the in vitro fertilization population.
Fertil Steril;
97(1): 147-53.e7, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22112648
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