(Q79276040)

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Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

scientific article published on December 15, 2003

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20 December 2019

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b (English)

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20 December 2019

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b (English)

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10.1002/AJMG.A.20527

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30 March 2024

congenital central hypoventilation syndrome

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30 March 2024

Mary L. Marazita

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Mary L Marazita

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20 December 2019

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Lili Zhou

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20 December 2019

Debra E. Weese-Mayer

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Elizabeth M. Berry-Kravis

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30 March 2024

Brion S. Maher

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30 March 2024

Jean M. Silvestri

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30 March 2024

Mark E. Curran

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publication date

1 December 2003

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20 December 2019

15 December 2003

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30 March 2024

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30 March 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20527

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30 March 2024

American Journal of Medical Genetics

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20 December 2019

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20 December 2019

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20 December 2019

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20 December 2019

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

1

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

2

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Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

3

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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The use of measured genotype information in the analysis of quantitative phenotypes in man. I. Models and analytical methods.

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The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

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Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET

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Ondine's curse and neurocristopathy

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Ondine's curse: a discussion of five cases.

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

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

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Abnormal esophageal motility in children with congenital central hypoventilation syndrome.

14

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30 March 2024

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

15

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30 March 2024

Human HOX gene mutations

17

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Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

19

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

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Two rat homologues of Drosophila achaete-scute specifically expressed in neuronal precursors

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Congenital central hypoventilation syndrome in monozygotic twins.

24

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

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MASH1 maintains competence for BMP2-induced neuronal differentiation in post-migratory neural crest cells

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Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells

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

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Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

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PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

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

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

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

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30 March 2024

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

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Anxiety and congenital central hypoventilation syndrome.

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Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1.

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

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Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways

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Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

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Rnx deficiency results in congenital central hypoventilation

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

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

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Idiopathic congenital central hypoventilation syndrome: the next generation.

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Fate of midbrain dopaminergic neurons controlled by the engrailed genes

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Autonomic dysfunction in children with Hirschsprung's disease

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Total aganglionosis of the colon and Ondine's curse

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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Congenital central hypoventilation syndrome associated with multiple ganglioneuromas.

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

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

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

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

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

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

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Expression of Ret-, p75(NTR)-, Phox2a-, Phox2b-, and tyrosine hydroxylase-immunoreactivity by undifferentiated neural crest-derived cells and different classes of enteric neurons in the embryonic mouse gut

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Identifiers

10.1002/AJMG.A.20527

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14608649%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14608649%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

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