(Q88038924)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24909117%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Monozygotic twins with 17q21.31 microdeletion syndrome (English)

1 reference

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20 March 2020

main subject

microdeletion syndrome

1 reference

8

1 reference

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20 March 2020

author name string

Marketa Vlckova

1

1 reference

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20 March 2020

Miroslava Hancarova

2

1 reference

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20 March 2020

Jana Drabova

3

1 reference

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20 March 2020

Zuzana Slamova

4

1 reference

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20 March 2020

Monika Koudova

5

1 reference

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20 March 2020

Renata Alanova

6

1 reference

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20 March 2020

Katrin Mannik

7

1 reference

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20 March 2020

Zdenek Sedlacek

9

1 reference

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20 March 2020

publication date

9 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24909117%20AND%20SRC:MED&resulttype=core&format=json

Twin Research and Human Genetics

20 March 2020

published in

1 reference

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20 March 2020

volume

17

1 reference

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20 March 2020

issue

5

1 reference

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20 March 2020

page(s)

405-410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24909117%20AND%20SRC:MED&resulttype=core&format=json

Blood ties: chimerism can mask twin discordance in high-throughput sequencing

20 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Epigenetic differences arise during the lifetime of monozygotic twins

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

A common inversion under selection in Europeans

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Structural diversity and African origin of the 17q21.31 inversion polymorphism

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

DNA methylation profiles in monozygotic and dizygotic twins.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance?

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Putative role of brain acetaldehyde in ethanol addiction

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FTHG.2014.29

7 January 2021

Identifiers

DOI

10.1017/THG.2014.29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24909117%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference