Molecular analysis of congenital central hypoventilation syndrome (Q28210943)

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scientific article (publication date: December 2003)

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English	Molecular analysis of congenital central hypoventilation syndrome	scientific article (publication date: December 2003)

Statements

instance of

scholarly article

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title

Molecular analysis of congenital central hypoventilation syndrome (English)

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main subject

congenital disorder

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congenital central hypoventilation syndrome

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genetics

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stated in

Crossref

DOI

10.1007/S00439-003-1036-Z

reference URL

https://api.crossref.org/works/10.1007/S00439-003-1036-Z

retrieved

22 March 2024

author

Satoshi Kusuda

series ordinal

9

object named as

Satoshi Kusuda

1 reference

stated in

Europe PubMed Central

PubMed publication ID

14566559

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14566559

retrieved

22 March 2024

Kiyoshi Hayasaka

series ordinal

14

object named as

Kiyoshi Hayasaka

1 reference

stated in

Europe PubMed Central

PubMed publication ID

14566559

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14566559

retrieved

22 March 2024

author name string

Ayako Sasaki

series ordinal

1

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Masayo Kanai

series ordinal

2

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Kazuki Kijima

series ordinal

3

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Kazuhiro Akaba

series ordinal

4

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Motoya Hashimoto

series ordinal

5

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Hisaya Hasegawa

series ordinal

6

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Shinsuke Otaki

series ordinal

7

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Takenobu Koizumi

series ordinal

8

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Youhei Ogawa

series ordinal

10

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Keiji Tuchiya

series ordinal

11

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Wakako Yamamoto

series ordinal

12

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Tomohiko Nakamura

series ordinal

13

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language of work or name

English

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publication date

December 2003

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18 October 2003

1 reference

stated in

Europe PubMed Central

PubMed publication ID

14566559

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14566559

retrieved

22 March 2024

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00439-003-1036-z.pdf

file format

Portable Document Format

1 reference

stated in

Crossref

DOI

10.1007/S00439-003-1036-Z

reference URL

https://api.crossref.org/works/10.1007/S00439-003-1036-Z

retrieved

22 March 2024

http://link.springer.com/article/10.1007/s00439-003-1036-z/fulltext.html

file format

HTML

1 reference

stated in

Crossref

DOI

10.1007/S00439-003-1036-Z

reference URL

https://api.crossref.org/works/10.1007/S00439-003-1036-Z

retrieved

22 March 2024

http://link.springer.com/content/pdf/10.1007/s00439-003-1036-z

1 reference

stated in

Crossref

DOI

10.1007/S00439-003-1036-Z

reference URL

https://api.crossref.org/works/10.1007/S00439-003-1036-Z

retrieved

22 March 2024

published in

Human Genetics

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volume

114

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issue

1

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page(s)

22-6

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cites work

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevation of blood pressure by genetic and pharmacological disruption of the ETB receptor in mice

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mother-daughter transmission of congenital central hypoventilation syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complete spectrum of neurocristopathy in an infant with congenital hypoventilation, Hirschsprung's disease, and neuroblastoma

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome associated with multiple ganglioneuromas

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brain-derived neurotrophic factor is required for normal development of the central respiratory rhythm in mice

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RET proto-oncogene is important for the development of respiratory CO2 sensitivity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phox2 genes - from patterning to connectivity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel insights into congenital hypoventilation syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rnx deficiency results in congenital central hypoventilation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome in monozygotic twins

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic congenital central hypoventilation syndrome: the next generation.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14566559

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00439-003-1036-Z

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Dimensions Publication ID

1014522408

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PubMed publication ID

14566559

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