(Q37849639)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Min-Jung Kwon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Gi-Hyuck Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Myoung-Keun Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Ji-Youn Kim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Hye Soo Yoo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Yun Sil Chang

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Jong-Won Kim

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Won Soon Park

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

publication date

4 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

24 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

10

1 reference

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24 January 2020

page(s)

1267-1271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

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

24 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Phox2 genes - from patterning to connectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Congenital failure of automatic ventilation (Ondine's curse)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-011-1434-5

MECP2 duplication in a patient with congenital central hypoventilation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21373876

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21373876

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polyalanine expansions in human

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21373876

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00431-011-1434-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21373876%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference