Lista de obras -

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

artículo científico publicado en 2018

A unifying genetic model for facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

artículo científico publicado en 2021

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

artículo científico publicado en 2009

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

artículo científico publicado en 2016

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

artículo científico publicado en 2016

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

artículo científico publicado en 2014

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

artículo científico publicado en 2012

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

scientific article published on 19 December 2018

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

artículo científico publicado en 2011

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

artículo científico publicado en 2016

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

artículo científico publicado en 2010

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

artículo científico publicado en 2015

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2020

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

artículo científico publicado en 2015

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

artículo científico publicado en 2014

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

article

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

artículo científico publicado en 2015

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

artículo científico publicado en 2018

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

artículo científico publicado en 2015

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

artículo científico publicado en 2016

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

artículo científico publicado en 2011

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

artículo científico publicado en 2009

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

artículo científico publicado en 2019

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

artículo científico publicado en 2017

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

artículo científico publicado en 2013

Lista de obras de

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

A unifying genetic model for facioscapulohumeral muscular dystrophy

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1