Literature DB >> 32990200

Some congenital diseases may just show up later.

Manju S Hurvitz1, Rakesh Bhattacharjee1.   

Abstract

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Mesh：

Year:  2020        PMID： 32990200      PMCID： PMC8034207          DOI： 10.5664/jcsm.8850

Source DB:  PubMed          Journal:  J Clin Sleep Med        ISSN： 1550-9389            Impact factor:   4.062


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  18 in total

1.  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

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

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Isabella Ceccherini; Thomas G Keens; Darius A Loghmanee; Ha Trang
Journal:  Am J Respir Crit Care Med       Date:  2010-03-15       Impact factor: 21.405

3.  Congenital central hypoventilation syndrome and Hirschsprung disease: A retrospective review of the French National Registry Center on 33 cases.

Authors:  A Broch; H Trang; L Montalva; D Berrebi; S Dauger; A Bonnard
Journal:  J Pediatr Surg       Date:  2019-03-01       Impact factor: 2.545

4.  Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.

Authors:  Frank A Zelko; Michael N Nelson; Sue E Leurgans; Elizabeth M Berry-Kravis; Debra E Weese-Mayer
Journal:  Pediatr Pulmonol       Date:  2010-01

5.  24-hour BP in children with congenital central hypoventilation syndrome.

Authors:  Ha Trang; Souham Boureghda; Isabelle Denjoy; Mohamed Alia; Michel Kabaker
Journal:  Chest       Date:  2003-10       Impact factor: 9.410

6.  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 7.  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

Review 8.  Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Authors:  Debra E Weese-Mayer; Casey M Rand; Elizabeth M Berry-Kravis; Larry J Jennings; Darius A Loghmanee; Pallavi P Patwari; Isabella Ceccherini
Journal:  Pediatr Pulmonol       Date:  2009-06

9.  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

Review 10.  Congenital central hypoventilation syndrome: diagnosis and management.

Authors:  Melissa A Maloney; Sheila S Kun; Thomas G Keens; Iris A Perez
Journal:  Expert Rev Respir Med       Date:  2018-02-28       Impact factor: 3.772
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