(Q48477724)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

congenital central hypoventilation syndrome

25 December 2019

main subject

0 references

author

Wu-Shiun Hsieh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Lei-Ru Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Po-Nien Tsao

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Yi-Ning Su

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Pi-Chuan Fan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hung-Cheih Chou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Chien-Yi Chen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Yu-Hsun Chang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

1 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

number of pages

5

1 reference

Journal of the Formosan Medical Association

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

69-73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype

25 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Congenital central hypoventilation syndrome: an update

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

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://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Molecular analysis of congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Mutations of the RET-GDNF signaling pathway in Ondine's curse

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960218-7

7 January 2021

10.1016/S0929-6646(09)60218-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17282973%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference