Detalhe da pesquisa
1.
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
Hum Mol Genet
; 29(19): 3285-3295, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32977341
2.
Zinc finger protein 274 regulates imprinted expression of transcripts in Prader-Willi syndrome neurons.
Hum Mol Genet
; 27(3): 505-515, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228278
3.
An in vivo EGF receptor localization screen in C. elegans Identifies the Ezrin homolog ERM-1 as a temporal regulator of signaling.
PLoS Genet
; 10(5): e1004341, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24785082
4.
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Hum Mutat
; 34(11): 1472-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956177
5.
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.
Sci Adv
; 8(36): eabh2868, 2022 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070393
6.
Prader-Willi syndrome: reflections on seminal studies and future therapies.
Open Biol
; 10(9): 200195, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961075
7.
Contiguous mutation syndrome in the era of high-throughput sequencing.
Mol Genet Genomic Med
; 3(3): 215-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26029708
8.
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Nat Neurosci
; 18(12): 1731-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26571461
9.
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Nat Genet
; 44(11): 1255-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086397
10.
[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects]. / Les mutations du gène NONO sont responsables d'un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices.
Med Sci (Paris)
; 32(6-7): 571-3, 2016.
Artigo
em Francês
| MEDLINE | ID: mdl-27406762