Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant (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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author name string

Ulrike Hennewig

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Berit Hadzik

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Markus Vogel

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Thomas Meissner

4

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Timm Goecke

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Hartmut Peters

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Georg Selzer

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Thomas Hoehn

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publication date

14 March 2008

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Journal of Human Genetics

published in

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volume

53

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issue

6

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page(s)

573-577

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https://scigraph.springernature.com/pub.10.1007/s10038-008-0275-1

exact match

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cites work

Congenital central hypoventilation syndrome and Hirschsprung's disease

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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

1 reference

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