(Q34156952)

31 July 2017

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome (English)

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congenital central hypoventilation syndrome

31 July 2017

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Luigi Gagliardi

5

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Isabella Ceccherini

object named as

Isabella Ceccherini

13

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Fabio Mosca

object named as

Fabio Mosca

8

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Roberto Ravazzolo

12

object named as

Roberto Ravazzolo

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31 July 2017

Ivana Matera

1

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31 July 2017

Tiziana Bachetti

2

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31 July 2017

Roberta Cinti

3

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31 July 2017

Margherita Lerone

4

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31 July 2017

Francesco Morandi

6

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31 July 2017

Mario Motta

7

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31 July 2017

Giancarlo Ottonello

9

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31 July 2017

Raffaele Piumelli

10

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31 July 2017

Johannes G Schober

11

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31 July 2017

1 November 2002

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American Journal of Medical Genetics Part A

31 July 2017

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31 July 2017

113

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31 July 2017

2

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31 July 2017

178-182

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Hirschsprung disease, associated syndromes, and genetics: a review

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

3' deletions cause aniridia by preventing PAX6 gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Assignment of the human homeobox 11-like 2 gene (HOX11L2) to chromosome 5q34-->q35 by radiation hybrid mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Formation of brainstem (nor)adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Rnx deficiency results in congenital central hypoventilation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Assignment of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4-A5 by in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Hox11 controls the genesis of the spleen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

Ondine's curse and neurocristopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

CHox11L2, a Hox11 related gene, is expressed in the peripheral nervous system and subpopulation of the spinal cord during chick development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10746

21 January 2018

Identifiers

DOI

10.1002/AJMG.10746

1 reference

31 July 2017

1 reference