(Q34515079)

2 August 2017

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

1 reference

congenital central hypoventilation syndrome

2 August 2017

0 references

0 references

author name string

Weese-Mayer DE

1

1 reference

2 August 2017

Silvestri JM

2

1 reference

2 August 2017

Huffman AD

3

1 reference

2 August 2017

Smok-Pearsall SM

4

1 reference

2 August 2017

Kowal MH

5

1 reference

2 August 2017

Maher BS

6

1 reference

2 August 2017

Cooper ME

7

1 reference

2 August 2017

Marazita ML

8

1 reference

2 August 2017

1 May 2001

1 reference

American Journal of Medical Genetics Part A

2 August 2017

1 reference

2 August 2017

100

1 reference

2 August 2017

3

1 reference

2 August 2017

237-245

1 reference

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

2 August 2017

1 reference

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

21 January 2018

1 reference

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Ondine's curse: a discussion of five cases.

21 January 2018

1 reference

Congenital failure of automatic ventilation (Ondine's curse)

21 January 2018

1 reference

GDNF signalling through the Ret receptor tyrosine kinase

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital central hypoventilation syndrome in monozygotic twins.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital central hypoventilation syndrome associated with multiple ganglioneuromas.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Heart rate variability in congenital central hypoventilation syndrome

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1249

1 reference

2 August 2017

1 reference