Molecular analysis of congenital central hypoventilation syndrome (Q28210943)

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

22 March 2024

9

Satoshi Kusuda

1 reference

Europe PubMed Central

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

22 March 2024

14

Kiyoshi Hayasaka

1 reference

Europe PubMed Central

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

22 March 2024

author name string

Ayako Sasaki

1

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Masayo Kanai

2

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Kazuki Kijima

3

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Kazuhiro Akaba

4

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Motoya Hashimoto

5

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Hisaya Hasegawa

6

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Shinsuke Otaki

7

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Takenobu Koizumi

8

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Youhei Ogawa

10

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Keiji Tuchiya

11

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Wakako Yamamoto

12

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Tomohiko Nakamura

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

Europe PubMed Central

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

full work available at URL

22 March 2024

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

file format

Portable Document Format

1 reference

Crossref

DOI

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

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

22 March 2024

1 reference

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

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

22 March 2024

1 reference

Crossref

DOI

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

22 March 2024

0 references

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

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12 December 2020

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

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12 December 2020

Mother-daughter transmission of congenital central hypoventilation syndrome

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12 December 2020

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

1 reference

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

1 reference

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Congenital central hypoventilation syndrome associated with multiple ganglioneuromas.

1 reference

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

1 reference

12 December 2020

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

1 reference

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

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

1 reference

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

1 reference

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

1 reference

12 December 2020

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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Phox2 genes - from patterning to connectivity

1 reference

12 December 2020

Novel insights into congenital hypoventilation syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Rnx deficiency results in congenital central hypoventilation

1 reference

12 December 2020

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital central hypoventilation syndrome in monozygotic twins.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Idiopathic congenital central hypoventilation syndrome: the next generation.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

Dimensions Publication ID

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1014522408

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