Detalhe da pesquisa
1.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
2.
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Hum Mol Genet
; 23(20): 5464-78, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24890387
3.
Dual roles for Prox1 in the regulation of the chicken betaB1-crystallin promoter.
Invest Ophthalmol Vis Sci
; 49(4): 1542-52, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385074
4.
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
Mol Ther Nucleic Acids
; 12: 420-432, 2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30195779
5.
Subfertility in mice harboring a mutation in betaB2-crystallin.
Mol Vis
; 13: 366-73, 2007 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-17392687
6.
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Ann Clin Transl Neurol
; 2(6): 648-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125040
7.
Proteomic and sequence analysis of chicken lens crystallins reveals alternate splicing and translational forms of beta B2 and beta A2 crystallins.
Invest Ophthalmol Vis Sci
; 45(8): 2705-15, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15277495
8.
Ectopic Pax6 expression disturbs lens fiber cell differentiation.
Invest Ophthalmol Vis Sci
; 45(10): 3589-98, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15452066
9.
The Zeb proteins δEF1 and Sip1 may have distinct functions in lens cells following cataract surgery.
Invest Ophthalmol Vis Sci
; 55(8): 5445-55, 2014 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25082886
10.
General utility of the chicken betaB1-crystallin promoter to drive protein expression in lens fiber cells of transgenic mice.
Transgenic Res
; 11(4): 397-410, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12212842