(Q48477098)

11 February 2018

title

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

1 reference

11 February 2018

author

Pau-Chung Chen

4

1 reference

11 February 2018

Po-Nien Tsao

object named as

Po-Nien Tsao

3

0 references

Wu-Shiun Hsieh

object named as

Wu-Shiun Hsieh

11

0 references

author name string

Chia-Cheng Hung

1

1 reference

11 February 2018

Yi-Ning Su

2

1 reference

11 February 2018

Shio-Jean Lin

5

1 reference

11 February 2018

Cheng-Hui Lin

6

1 reference

11 February 2018

Shu-Chi Mu

7

1 reference

11 February 2018

Chieh-An Liu

8

1 reference

11 February 2018

Ying-Chao Chang

9

1 reference

11 February 2018

Win-Li Lin

10

1 reference

11 February 2018

Su-Ming Hsu

12

1 reference

11 February 2018

publication date

1 March 2007

1 reference

11 February 2018

published in

Electrophoresis

1 reference

11 February 2018

volume

28

1 reference

11 February 2018

issue

6

1 reference

11 February 2018

page(s)

894-899

1 reference

11 February 2018

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Congenital central hypoventilation syndrome: an update.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Molecular analysis of congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

PHOX2B gene mutation in a patient with late-onset central hypoventilation

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Forensic DNA typing by capillary electrophoresis using the ABI Prism 310 and 3100 genetic analyzers for STR analysis

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

DNA fragment analysis by an affordable multiple-channel capillary electrophoresis system

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Ondine's curse and neurocristopathy

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200600383

7 January 2021

Identifiers

DOI

10.1002/ELPS.200600383

1 reference

11 February 2018

1 reference

11 February 2018