(Q33957363)

30 July 2017

title

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

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congenital central hypoventilation syndrome

30 July 2017

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author name string

Debra E Weese-Mayer

1

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30 July 2017

Stacey Bolk

2

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30 July 2017

Jean M Silvestri

3

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30 July 2017

Aravinda Chakravarti

4

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30 July 2017

publication date

1 February 2002

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American Journal of Medical Genetics Part A

30 July 2017

published in

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30 July 2017

volume

107

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30 July 2017

issue

4

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30 July 2017

page(s)

306-310

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Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

30 July 2017

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1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10133

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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

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Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

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Congenital failure of automatic ventilation (Ondine's curse)

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GDNF signalling through the Ret receptor tyrosine kinase

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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

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Amino acid substitution matrices from protein blocks

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Localization of neurotrophins and their high-affinity receptors during human enteric nervous system development

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Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations

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

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Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

21 January 2018

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Novel roles for neurotrophins are suggested by BDNF and NT-3 mRNA expression in developing neurons

21 January 2018

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Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity.

21 January 2018

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Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome.

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

21 January 2018

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

21 January 2018

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Heart rate variability in congenital central hypoventilation syndrome

21 January 2018

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Ondine's curse: a discussion of five cases.

21 January 2018

1 reference

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

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Ondine's curse and neurocristopathy

21 January 2018

1 reference

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Synaptic innervation density is regulated by neuron-derived BDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10133

Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder?

21 January 2018

1 reference

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Total aganglionosis of the colon and Ondine's curse

21 January 2018

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

21 January 2018

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Control of ventilation of Ondine's curse

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.10133

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30 July 2017

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