(Q51788691)

12 April 2018

title

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

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author

Jeanne Amiel

8

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Valérie Malan

9

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Christian Gilissen

12

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Hans Scheffer

18

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Lisenka Vissers

19

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Annette Schenck

23

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Annick Toutain

7

Annick Toutain

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Joris A Veltman

22

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Han G. Brunner

21

Han G Brunner

1 reference

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Jamie M Kramer

2

Jamie M Kramer

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Arjan P M de Brouwer

20

Arjan P M de Brouwer

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Kornelia Neveling

3

Kornelia Neveling

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Willy M Nillesen

4

Willy M Nillesen

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David A Koolen

1

David A Koolen

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Helger G Yntema

24

Helger G Yntema

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Ernie M H F Bongers

16

Ernie M H F Bongers

1 reference

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Sau Wai Cheung

11

Sau Wai Cheung

1 reference

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Ton Feuth

15

Ton Feuth

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Bert B A de Vries

25

Bert B A de Vries

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author name string

Heather L Moore-Barton

5

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Frances V Elmslie

6

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Anne Chun-Hui Tsai

10

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Eugene T P Verwiel

13

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Sarah Martens

14

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Petra de Vries

17

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language of work or name

English

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publication date

29 April 2012

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12 April 2018

published in

Nature Genetics

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volume

44

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issue

6

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page(s)

639-641

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https://scigraph.springernature.com/pub.10.1038/ng.2262

exact match

0 references

cites work

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

21 January 2018

1 reference

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

21 January 2018

1 reference

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila

21 January 2018

1 reference

Two mammalian MOF complexes regulate transcription activation by distinct mechanisms

21 January 2018

1 reference

Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

The nonspecific lethal complex is a transcriptional regulator in Drosophila

21 January 2018

1 reference

The nuclear protein Waharan is required for endosomal-lysosomal trafficking in Drosophila

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG.2262

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12 April 2018

PubMed ID

22544363

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12 April 2018