Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. (Q36695869)

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3 March 2020

title

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2 (English)

1 reference

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3 March 2020

3

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3 March 2020

Baziel van Engelen

6

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3 March 2020

Adolfo López de Munain

7

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3 March 2020

Silvère M van der Maarel

11

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3 March 2020

author name string

Marlinde L van den Boogaard

1

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3 March 2020

Richard J F L Lemmers

2

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3 March 2020

Patrick J van der Vliet

4

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3 March 2020

Nicol Voermans

5

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3 March 2020

Stephen J Tapscott

8

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3 March 2020

Nienke van der Stoep

9

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3 March 2020

Rabi Tawil

10

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3 March 2020

publication date

18 March 2015

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European Journal of Human Genetics

3 March 2020

published in

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volume

24

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issue

1

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3 March 2020

page(s)

78-85

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describes a project that uses

3 March 2020

ImageQuant

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11 June 2022

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based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.55

0 references

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

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Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

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

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Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

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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).

30 September 2017

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SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

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30 September 2017

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28 June 2018

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5 September 2018

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5 September 2018

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PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782668

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25782668%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

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3 March 2020

1 reference

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