Detalhe da pesquisa
1.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698748
2.
SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.
Genome Res
; 25(12): 1781-90, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26359233
3.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Hum Mutat
; 38(10): 1432-1441, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744936
4.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27634379
5.
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Hum Mutat
; 36(4): 443-53, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25615407
6.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Hum Mol Genet
; 22(20): 4206-14, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777630
7.
Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.
Sci Rep
; 9(1): 10327, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316120
8.
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Neurol Genet
; 5(6): e372, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872053
9.
Design on a Rational Basis of High-Affinity Peptides Inhibiting the Histone Chaperone ASF1.
Cell Chem Biol
; 26(11): 1573-1585.e10, 2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31543461
10.
A score for measurement of the role of social vulnerability in decisions on abortion.
Eur J Obstet Gynecol Reprod Biol
; 117(1): 93-101, 2004 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15474252
11.
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Neurology
; 83(8): 733-42, 2014 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25031281