Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome (Q34515079)

2 August 2017

title

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome (English)

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congenital central hypoventilation syndrome

2 August 2017

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author name string

Weese-Mayer DE

1

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Silvestri JM

2

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Huffman AD

3

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Smok-Pearsall SM

4

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Kowal MH

5

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Maher BS

6

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Cooper ME

7

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Marazita ML

8

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publication date

1 May 2001

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American Journal of Medical Genetics Part A

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published in

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2 August 2017

volume

100

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issue

3

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page(s)

237-245

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

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cites work

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

21 January 2018

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Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

21 January 2018

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

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

21 January 2018

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Ondine's curse: a discussion of five cases

21 January 2018

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Congenital failure of automatic ventilation (Ondine's curse)

21 January 2018

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GDNF signalling through the Ret receptor tyrosine kinase

21 January 2018

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

21 January 2018

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Congenital central hypoventilation syndrome in monozygotic twins

21 January 2018

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Congenital central hypoventilation syndrome: A pathologic study of the neuromuscular system

21 January 2018

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Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse).

21 January 2018

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Cardio-respiratory control in an infant with Ondine's curse: a multivariate autoregressive modelling approach

21 January 2018

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

21 January 2018

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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

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

21 January 2018

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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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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.

21 January 2018

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Congenital central hypoventilation syndrome associated with multiple ganglioneuromas

21 January 2018

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

21 January 2018

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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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21 January 2018

Identifiers

DOI

10.1002/AJMG.1249

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2 August 2017

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