Literature DB >> 15105164

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

Debra E Weese-Mayer1, Elizabeth M Berry-Kravis.   

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Year:  2004        PMID： 15105164     DOI： 10.1164/rccm.200402-245PP

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


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  10 in total

1.  Central alveolar hypoventilation and failure to wean from the ventilator.

Authors:  Kannan Ramar
Journal:  J Clin Sleep Med       Date:  2009-12-15       Impact factor: 4.062

2.  Congenital central hypoventilation syndrome: four families.

Authors:  Amit Trivedi; Karen Waters; Sadasivam Suresh; Rashmi Nair
Journal:  Sleep Breath       Date:  2010-11-14       Impact factor: 2.816

3.  Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Authors:  Ulrike Hennewig; Berit Hadzik; Markus Vogel; Thomas Meissner; Timm Goecke; Hartmut Peters; Georg Selzer; Ertan Mayatepek; Thomas Hoehn
Journal:  J Hum Genet       Date:  2008-03-14       Impact factor: 3.172

4.  Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.

Authors:  Hidekazu Horiuchi; Ayako Sasaki; Motoki Osawa; Kazuki Kijima; Yukiko Ino; Ryoji Matoba; Kiyoshi Hayasaka
Journal:  J Mol Diagn       Date:  2005-11       Impact factor: 5.568

5.  Central Alveolar Hypoventilation Syndromes.

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

6.  Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome.

Authors:  Eveline van Delft; Peter Andriessen; Colleen N A L Vaessens; Jan Buijs; Sidarto Bambang Oetomo
Journal:  Eur J Pediatr       Date:  2009-12-02       Impact factor: 3.183

7.  The role of PHOX2B-derived astrocytes in chemosensory control of breathing and sleep homeostasis.

Authors:  Catherine M Czeisler; Talita M Silva; Summer R Fair; Jillian Liu; Srinivasan Tupal; Behiye Kaya; Aaron Cowgill; Salil Mahajan; Phelipe E Silva; Yangyang Wang; Angela R Blissett; Mustafa Göksel; Jeremy C Borniger; Ning Zhang; Silvio A Fernandes-Junior; Fay Catacutan; Michele J Alves; Randy J Nelson; Vishnu Sundaresean; Jens Rekling; Ana C Takakura; Thiago S Moreira; José J Otero
Journal:  J Physiol       Date:  2019-03-19       Impact factor: 5.182

8.  De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

Authors:  Hiroko Arai; Tesshu Otagiri; Ayako Sasaki; Taeko Hashimoto; Kazuo Umetsu; Katsushi Tokunaga; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2007-10-11       Impact factor: 3.172

9.  Effects of Theophylline with Methylprednisolone Combination Therapy on Biomechanics and Histopathology in Diaphragm Muscles of Rats.

Authors:  Nureddin Yuzkat; Ismail Kati; Yasemin Isik; Servet Kavak; Ugur Goktas; Nurettin Cengiz
Journal:  Inflammation       Date:  2016-10       Impact factor: 4.092

10.  Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Authors:  Kitiwan Rojnueangnit; Maria Descartes
Journal:  Clin Case Rep       Date:  2018-01-19
  10 in total

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