(Q53645931)

16 May 2018

title

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. (English)

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16 May 2018

2q23.1 microdeletion syndrome

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microdeletion syndrome

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based on heuristic

inferred from title

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Mitsuo Motobayashi

1

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16 May 2018

Akira Nishimura-Tadaki

2

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16 May 2018

Yuji Inaba

3

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16 May 2018

Tomoki Kosho

4

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16 May 2018

Satoko Miyatake

5

1 reference

16 May 2018

Taemi Niimi

6

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16 May 2018

Takafumi Nishimura

7

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16 May 2018

Keiko Wakui

8

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16 May 2018

Yoshimitsu Fukushima

9

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16 May 2018

Naomichi Matsumoto

10

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16 May 2018

Kenichi Koike

11

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16 May 2018

language of work or name

English

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publication date

9 March 2012

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16 May 2018

American Journal of Medical Genetics

published in

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16 May 2018

volume

158A

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16 May 2018

issue

4

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16 May 2018

page(s)

861-868

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16 May 2018

Comparison of factors contributing to developmental attainment of children between 9 and 18 months

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Mechanisms for human genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35235

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35235

1 reference

16 May 2018

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16 May 2018