Literature DB >> 21088916

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

Muslim Mohammed Al Saadi1.   

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Year:  2010        PMID： 21088916     DOI： 10.1007/s11325-010-0438-0

Source DB:  PubMed          Journal:  Sleep Breath        ISSN： 1520-9512            Impact factor:   2.816


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  11 in total

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

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou
Journal:  Am J Respir Crit Care Med       Date:  2005-01-01       Impact factor: 21.405

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

Authors:  Nick A Antic; Beth A Malow; Neale Lange; R Doug McEvoy; Amy L Olson; Peter Turkington; Wolfram Windisch; Martin Samuels; Cathy A Stevens; Elizabeth M Berry-Kravis; Debra E Weese-Mayer
Journal:  Am J Respir Crit Care Med       Date:  2006-07-27       Impact factor: 21.405

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

Authors:  Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

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

Authors:  Ha Trang; Michel Dehan; François Beaufils; Isabelle Zaccaria; Jeanne Amiel; Claude Gaultier
Journal:  Chest       Date:  2005-01       Impact factor: 9.410

5.  Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Authors:  Elizabeth M Berry-Kravis; Lili Zhou; Casey M Rand; Debra E Weese-Mayer
Journal:  Am J Respir Crit Care Med       Date:  2006-08-03       Impact factor: 21.405

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

Authors:  Chia-Cheng Hung; Yi-Ning Su; Po-Nien Tsao; Pau-Chung Chen; Shio-Jean Lin; Cheng-Hui Lin; Shu-Chi Mu; Chieh-An Liu; Ying-Chao Chang; Win-Li Lin; Wu-Shiun Hsieh; Su-Ming Hsu
Journal:  Electrophoresis       Date:  2007-03       Impact factor: 3.535

7.  Central Alveolar Hypoventilation Syndromes.

Authors:  Hiren Muzumdar; Raanan Arens
Journal:  Sleep Med Clin       Date:  2008-12-01

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

Authors:  Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

9.  PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Authors:  Delphine Trochet; Loïc de Pontual; Christian Straus; David Gozal; Ha Trang; Pierre Landrieu; Arnold Munnich; Stanislas Lyonnet; Claude Gaultier; Jeanne Amiel
Journal:  Am J Respir Crit Care Med       Date:  2007-12-13       Impact factor: 21.405

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

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou; Brion S Maher; Jean M Silvestri; Mark E Curran; Mary L Marazita
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802
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  2 in total

1.  Congenital central hypoventilation syndrome with PHOX2B mutation in Saudi Arabia: a- single center experience.

Authors:  Aisha Almutairi
Journal:  Int J Health Sci (Qassim)       Date:  2014-07

Review 2.  Proceedings of the fourth international conference on central hypoventilation.

Authors:  Ha Trang; Jean-François Brunet; Hermann Rohrer; Jorge Gallego; Jeanne Amiel; Tiziana Bachetti; Kenneth H Fischbeck; Thomas Similowski; Christian Straus; Isabella Ceccherini; Debra E Weese-Mayer; Matthias Frerick; Katarzyna Bieganowska; Linda Middleton; Francesco Morandi; Giancarlo Ottonello
Journal:  Orphanet J Rare Dis       Date:  2014-12-05       Impact factor: 4.123
  2 in total

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