(Q54562575)

1 June 2018

title

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2. (English)

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1 June 2018

author name string

Nobuhiko Okamoto

1

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1 June 2018

Tatsuya Fujii

2

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1 June 2018

Junko Tanaka

3

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1 June 2018

Kazumasa Saito

4

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Takeshi Matsui

5

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Naoki Harada

6

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language of work or name

English

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publication date

20 November 2013

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1 June 2018

American Journal of Medical Genetics

published in

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volume

164A

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issue

1

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page(s)

213-219

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1 June 2018

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Large, rare chromosomal deletions associated with severe early-onset obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36217

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36217

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1 June 2018

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1 June 2018