(Q48440264)

11 February 2018

title

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant (English)

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11 February 2018

congenital central hypoventilation syndrome

main subject

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8

Ertan Mayatepek

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11 February 2018

author name string

Ulrike Hennewig

1

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11 February 2018

Berit Hadzik

2

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11 February 2018

Markus Vogel

3

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11 February 2018

Thomas Meissner

4

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11 February 2018

Timm Goecke

5

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11 February 2018

Hartmut Peters

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11 February 2018

Georg Selzer

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11 February 2018

Thomas Hoehn

9

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11 February 2018

publication date

14 March 2008

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11 February 2018

Journal of Human Genetics

published in

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11 February 2018

volume

53

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11 February 2018

issue

6

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11 February 2018

page(s)

573-577

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11 February 2018

Congenital central hypoventilation syndrome and Hirschsprung's disease

cites work

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12 December 2020

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

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12 December 2020

Autonomic regulation of islet hormone secretion--implications for health and disease

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12 December 2020

The role of Phox2b in synchronizing pan-neuronal and type-specific aspects of neurogenesis.

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12 December 2020

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

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12 December 2020

Hyperinsulinism in syndromal disorders

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12 December 2020

Norepinephrine and epinephrine-deficient mice are hyperinsulinemic and have lower blood glucose

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12 December 2020

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

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12 December 2020

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant

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12 December 2020

Age-associated changes in mRNA levels of Phox2, norepinephrine transporter and dopamine beta-hydroxylase in the locus coeruleus and adrenal glands of rats

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12 December 2020

The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity

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12 December 2020

Hyperinsulinism in infancy and childhood: when an insulin level is not always enough

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12 December 2020

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

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12 December 2020

Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat.

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12 December 2020

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

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12 December 2020

Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

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12 December 2020

Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies

1 reference

12 December 2020

10.1007/S10038-008-0275-1

Identifiers

DOI

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11 February 2018

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11 February 2018