Literature DB >> 15615891

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

Debra E Weese-Mayer, Elizabeth M Berry-Kravis, Lili Zhou.   

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Year:  2005        PMID： 15615891     DOI： 10.1164/ajrccm.171.1.950

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  18 in total

1.  Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report.

Authors:  Muslim Mohammed Al Saadi
Journal:  Sleep Breath       Date:  2010-11-19       Impact factor: 2.816

2.  Area postrema undergoes dynamic postnatal changes in mice and humans.

Authors:  Hamza Numan Gokozan; Faisal Baig; Sarah Corcoran; Fay Patsy Catacutan; Patrick Edwin Gygli; Ana C Takakura; Thiago S Moreira; Catherine Czeisler; José J Otero
Journal:  J Comp Neurol       Date:  2015-12-17       Impact factor: 3.215

3.  Intelligent volume-assured pressured support (iVAPS) for the treatment of congenital central hypoventilation syndrome.

Authors:  Abdullah Khayat; Debra Medin; Faiza Syed; Theo J Moraes; Saadoun Bin-Hasan; Indra Narang; Suhail Al-Saleh; Reshma Amin
Journal:  Sleep Breath       Date:  2017-02-11       Impact factor: 2.816

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

Authors:  Ruth L Stornetta; Thiago S Moreira; Ana C Takakura; Bong Jin Kang; Darryl A Chang; Gavin H West; Jean François Brunet; Daniel K Mulkey; Douglas A Bayliss; Patrice G Guyenet
Journal:  J Neurosci       Date:  2006-10-04       Impact factor: 6.167

5.  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.

Authors:  Ismail Al Rashdi; Mohammed Al Ghafri; Said Al Hanshi; Nabil Al Macki
Journal:  Oman Med J       Date:  2011-09

6.  Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Authors:  Shaney Barratt; Adrian Kendrick; Fiona Buchanan; Adam Whittle
Journal:  BMJ Case Rep       Date:  2009-02-02

7.  Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Authors:  Jacob T Cain; Dae I Kim; Megan Quast; Winnie G Shivega; Ryan J Patrick; Chuanpit Moser; Suzanne Reuter; Myrza Perez; Angela Myers; Jill M Weimer; Kyle J Roux; Megan Landsverk
Journal:  Am J Med Genet A       Date:  2017-03-29       Impact factor: 2.802

8.  Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Authors:  Aoi Hino; Jiro Terada; Hajime Kasai; Hikaru Shojima; Keiko Ohgino; Ayako Sasaki; Kiyoshi Hayasaka; Koichiro Tatsumi
Journal:  J Clin Sleep Med       Date:  2020-11-15       Impact factor: 4.062

Review 9.  Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Authors:  Debra E Weese-Mayer; Casey M Rand; Amy Zhou; Michael S Carroll; Carl E Hunt
Journal:  Pediatr Res       Date:  2016-09-27       Impact factor: 3.756

10.  Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Authors:  S Barratt; A H Kendrick; F Buchanan; A T Whittle
Journal:  Thorax       Date:  2007-10       Impact factor: 9.139
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