(Q50789416)

19 March 2018

title

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. (English)

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19 March 2018

author name string

Keiko Shimojima

1

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19 March 2018

Nobuhiko Okamoto

2

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19 March 2018

Tetsuya Inazu

3

1 reference

19 March 2018

Toshiyuki Yamamoto

4

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19 March 2018

publication date

25 August 2011

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19 March 2018

Journal of Human Genetics

published in

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volume

56

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issue

11

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page(s)

810-812

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19 March 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2011.100

exact match

0 references

cites work

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Microduplication 22q11.2: a new chromosomal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Genome architecture, rearrangements and genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Mechanisms for human genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

De novo microduplication at 22q11.21 in a patient with VACTERL association

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

inferred from DOI database lookup

7 January 2021

based on heuristic

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.100

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2011.100

1 reference

19 March 2018

Dimensions Publication ID

1019638745

0 references

1 reference

19 March 2018