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1.
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clin Genet
; 105(3): 335-339, 2024 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38041579
2.
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
Electrophoresis
; 44(19-20): 1588-1594, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37565369
3.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Hum Mol Genet
; 28(23): 3912-3920, 2019 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600781
4.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Neurogenetics
; 20(2): 57-64, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30911870
5.
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
Front Genet
; 14: 1235589, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37674478
6.
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.
Cells
; 11(17)2022 08 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36078093
7.
D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.
Cells
; 11(24)2022 12 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36552879
8.
Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR.
Genes (Basel)
; 13(8)2022 08 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36011409
9.
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: A study on 4266 samples.
Int J Infect Dis
; 108: 187-189, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33878460
10.
Facioscapulohumeral muscular dystrophy: do neurotrophins play a role?
Muscle Nerve
; 41(1): 120-7, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19813193
11.
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Front Neurol
; 9: 1027, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30546343
12.
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
BMC Med Genet
; 8: 8, 2007 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-17335567
13.
Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI) patients are characterized by increased BDNF serum levels.
Curr Alzheimer Res
; 7(1): 15-20, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20205668
14.
Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.
Proteomics
; 6(19): 5303-21, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17013991
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