Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD-Reference-Cited by-同舟云学术

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

Published:2018-11-28 Issue: Volume:9 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Cascella Raffaella,Strafella Claudia,Caputo Valerio,Galota Rosaria Maria,Errichiello Valeria,Scutifero Marianna,Petillo Roberta,Marella Gian Luca,Arcangeli Mauro,Colantoni Luca,Zampatti Stefania,Ricci Enzo,Deidda Giancarlo,Politano Luisa,Giardina Emiliano

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference22 articles.

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1. Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD;Frontiers in Genetics;2023-08-22

2. Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level;ELECTROPHORESIS;2023-08-11

3. D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients;Cells;2022-12-18

4. Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD;Cells;2022-08-29

5. Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients;Children;2022-01-11