Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2. (Q40035950)

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6 March 2020

title

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2 (English)

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6 March 2020

6

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Giorgio Tasca

7

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6 March 2020

Silvère M van der Maarel

10

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6 March 2020

Giancarlo Deidda

11

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6 March 2020

author name string

Patrizia Calandra

1

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6 March 2020

Isabella Cascino

2

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Richard J L F Lemmers

3

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6 March 2020

Giuliana Galluzzi

4

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6 March 2020

Emanuela Teveroni

5

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Enzo Ricci

8

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Fabiola Moretti

9

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language of work or name

English

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publication date

1 February 2016

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Journal of Medical Genetics

6 March 2020

published in

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volume

53

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page(s)

348-355

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6 March 2020

issue

5

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

6 March 2020

cites work

1 reference

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

21 January 2018

1 reference

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Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

21 January 2018

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Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

21 January 2018

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

21 January 2018

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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

21 January 2018

1 reference

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

21 January 2018

1 reference

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A unifying genetic model for facioscapulohumeral muscular dystrophy

21 January 2018

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Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

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Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

21 January 2018

1 reference

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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

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A focal domain of extreme demethylation within D4Z4 in FSHD2.

21 January 2018

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Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

21 January 2018

1 reference

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Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103436

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103436

MethPrimer: designing primers for methylation PCRs

21 January 2018

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10.1136/JMEDGENET-2015-103436

21 January 2018

Identifiers

DOI

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6 March 2020

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