(Q41933712)

14 October 2017

title

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination (English)

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14 October 2017

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Keiko Shimojima

1

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14 October 2017

Nobuhiko Okamoto

2

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14 October 2017

Yume Suzuki

3

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14 October 2017

Mari Saito

4

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14 October 2017

Masato Mori

5

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14 October 2017

Tatanori Yamagata

6

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14 October 2017

Mariko Y Momoi

7

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14 October 2017

Hideji Hattori

8

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14 October 2017

Yoshiyuki Okano

9

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14 October 2017

Ken Hisata

10

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14 October 2017

Akihisa Okumura

11

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14 October 2017

Toshiyuki Yamamoto

12

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14 October 2017

publication date

21 June 2012

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Journal of Human Genetics

14 October 2017

published in

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14 October 2017

volume

57

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14 October 2017

issue

9

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14 October 2017

page(s)

593-600

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Subtle chromosomal rearrangements in children with unexplained mental retardation

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Genomic copy number variations at 17p13.3 and epileptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Chromosome 1q42 deletion and agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Delineation of the cryptic 1qter deletion phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

7 January 2021

A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

7 January 2021

Two new cases of pure 1q terminal deletion presenting with brain malformations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

7 January 2021

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

7 January 2021

Polymorphic subtelomeric deletion 1q demonstrates the need to reevaluate subtelomere screening methods: determination of the boundary between pathogenic deletion and benign variant for subtelomere 1q

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.77

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.77

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14 October 2017

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