Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

American Journal of Medical Genetics

Volumn 100, Issue 3, 2001, Pages 229-236

  Marazita, Mary L ^a,b   Maher, Brion S ^a,b   Cooper, Margaret E ^a   Silvestri, Jean M ^c,d   Huffman, Angela D ^c   Smok Pearsall, Sheilah M ^c   Kowal, Mary H ^c   Weese Mayer, Debra E ^c,d  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c Rush Children's Hospital and Rush University Medical Center   (United States)

^d RUSH UNIVERSITY   (United States)

Author keywords

Autonomic nervous system (ANS) dysfunction; Idiopathic congenital central hypoventilation syndrome (CCHS); Segregation analysis

Indexed keywords

ARTICLE; AUTONOMIC DYSFUNCTION; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE SEGREGATION; HUMAN; IDIOPATHIC DISEASE; INFANT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AUTONOMIC NERVOUS SYSTEM DISEASES; CASE-CONTROL STUDIES; DATA INTERPRETATION, STATISTICAL; HUMANS; HYPOVENTILATION; NERVOUS SYSTEM MALFORMATIONS; SYNDROME;

EID: 0035341262     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1284     Document Type: Article

References (51)

1. A new look at the statistical model identification
2. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
3. Mutations of the RET-GDNF signaling pathway in Ondine's curse
4. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
5. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
6. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
7. Mutation of the endothelin-receptor B gene in the Waardenburg-Hirschsprung disease
8. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31
9. The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment
10. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
11. On the statistical determination of major gene mechanisms in continuous human traits: Regressive models
12. Ondine's curse and neurocristopathy
13. 2 sensitivity
14. Ondine's curse: A discussion of five cases
15. Familial dysautonomia
16. Congenital failure of automatic ventilation (Ondine's curse)
17. Neuroblastoma in a mother and congenital central hypoventilation in her daughter: Variable expression of the same genetic disorder?
18. GDNF signaling through the Ret receptor tyrosine kinase
19. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease
20. Congenital central hypoventilation and sleep state
21. Primary alveolar hypoventilation (Ondine's curse syndrome) in an infant without external arcuate nucleus. Case report
22. Congenital central hypoventilation syndrome: Ocular findings in 37 children
23. Congenital central alveolar hypoventilation syndrome in six infants
24. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate
25. Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs
26. Congenital central hypoventilation syndrome in monozygotic twins
27. Congenital central hypoventilation syndrome: A pathological study of the neuromuscular system
28. Hirschsprung's disease and Ondine's curse: Further evidence for a distinct syndrome
29. Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse)
30. Cardio-respiratory control in an infant with Ondine's curse: A multivariate autoregressive modeling approach
31. Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome
32. Anxiety and congenital central hypoventilation syndrome
33. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
34. Central autonomic dysfunction with defective lacrimation
35. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome
36. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
37. Central hypoventilation during quiet sleep in two infants
38. Rnx deficiency results in congenital central hypoventilation
39. Congenital central hypoventilation syndrome: Cardiorespiratory responses to moderate exercise, simulating daily activity
40. Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome
41. Total aganglionosis of the colon and Ondine's curse
42. Congenital central hypoventilation syndrome associated with multiple ganglioneuromas
43. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature
44. Congenital central hypoventilation syndrome: Diagnosis, management, and long-term outcome in thirty-two children
45. Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome
46. American Thoracic Society Statement on the diagnosis and management of idiopathic congenital central hypoventilation syndrome
47. Case/control family study of ANS dysfunction in idiopathic congential central hypoventilation syndrome
48. Control of ventilation in Ondine's curse
49. Heart rate variability in congenital central hypoventilation syndrome