(Q81422221)

English

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

scientific article published on 11 October 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

congenital central hypoventilation syndrome

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author name string

Hiroko Arai

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Tesshu Otagiri

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Ayako Sasaki

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Taeko Hashimoto

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Kazuo Umetsu

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Katsushi Tokunaga

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Kiyoshi Hayasaka

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

11 October 2007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

52

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Europe PubMed Central

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8 January 2020

11

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

921-925

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

https://scigraph.springernature.com/pub.10.1007/s10038-007-0197-3

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Advances in mechanisms of genetic instability related to hereditary neurological diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ARX mutations: a frequent cause of X-linked mental retardation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyalanine expansions in human

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alanine tracts: the expanding story of human illness and trinucleotide repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repeat instability: mechanisms of dynamic mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polyalanine expansions might not result from unequal crossing-over

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of congenital central hypoventilation syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The origins, patterns and implications of human spontaneous mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17928950

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0197-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17928950%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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