(Q28263308)

1

0 references

Tesshu Otagiri

2

0 references

Ayako Sasaki

3

0 references

Kazuo Umetsu

4

0 references

Kiyoshi Hayasaka

Journal of Human Genetics

5

0 references

language of work or name

English

0 references

publication date

January 2010

0 references

published in

0 references

volume

55

0 references

issue

1

0 references

page(s)

4-7

0 references

cites work

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

Molecular analysis of congenital central hypoventilation syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

Advances in mechanisms of genetic instability related to hereditary neurological diseases

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

The origins, patterns and implications of human spontaneous mutation

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

Yeast Mph1 helicase dissociates Rad51-made D-loops: implications for crossover control in mitotic recombination.

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/JHG.2009.109

Srs2 and Sgs1-Top3 suppress crossovers during double-strand break repair in yeast

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Polyalanine expansions might not result from unequal crossing-over

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Huntington disease expansion mutations in humans can occur before meiosis is completed

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

The hyper unequal sister chromatid recombination in an sgs1 mutant of budding yeast requires MSH2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

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/10.1038%2FJHG.2009.109

Expandable DNA repeats and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109

inferred from DOI database lookup

7 January 2021

based on heuristic

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109