Literature DB >> 22102181

Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.

Lia Rita Azeredo Bittencourt1, Mario Pedrazzoli, Fabiana Yagihara, Gabriela Pontes Luz, Silvério Garbuio, Gustavo Antonio Moreira, João Aléssio J Perfeito, Sergio Tufik.   

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Year:  2011        PMID： 22102181     DOI： 10.1007/s11325-011-0614-x

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


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  15 in total

1.  Central alveolar hypoventilation and sleep. Treatment by intermittent positive-pressure ventilation through nasal mask in an adult.

Authors:  C Guilleminault; R Stoohs; H Schneider; T Podszus; J H Peter; P von Wichert
Journal:  Chest       Date:  1989-11       Impact factor: 9.410

2.  ["Ondine's curse" in adults].

Authors:  F Bullemer; S Heindl; O Karg
Journal:  Pneumologie       Date:  1999-10

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.  Late-onset central hypoventilation syndrome: a family genetic study.

Authors:  L S Doherty; J L Kiely; P C Deegan; G Nolan; S McCabe; A J Green; S Ennis; W T McNicholas
Journal:  Eur Respir J       Date:  2007-02       Impact factor: 16.671

7.  [Clinical late manifestation of Ondine's syndrome with pronounced primary, especially sleep related alveolar hypoventilation].

Authors:  J Schlegel; K Kienast; B Fischer; R Ferlinz
Journal:  Pneumologie       Date:  1995-03

8.  Beneficial effect of oxygen in primary alveolar hypoventilation with central sleep apnea.

Authors:  W T McNicholas; J L Carter; R Rutherford; N Zamel; E A Phillipson
Journal:  Am Rev Respir Dis       Date:  1982-06

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

10.  Long-term survival of a patient with congenital central hypoventilation syndrome despite the lack of continuous ventilatory support.

Authors:  Wolfram Windisch; Ellen Hennings; Jan Hendrik Storre; Heinrich Matthys; Stephan Sorichter
Journal:  Respiration       Date:  2004 Mar-Apr       Impact factor: 3.580
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  7 in total

1.  Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome.

Authors:  Ajay S Kasi; Sheila S Kun; Thomas G Keens; Iris A Perez
Journal:  J Clin Sleep Med       Date:  2018-12-15       Impact factor: 4.062

2.  Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.

Authors:  Joana Magalhães; Núria Madureira; Rita Medeiros; Paula C Fernandes; Myriam Oufadem; Jeanne Amiel; M Helena Estêvão; M Guilhermina Reis
Journal:  Sleep Breath       Date:  2014-05-04       Impact factor: 2.816

3.  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 4.  Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.

Authors:  Renata Lazari Sandoval; Carlos Moreno Zaconeta; Paulo Roberto Margotto; Maria Teresinha de Oliveira Cardoso; Evely Mirella Santos França; Cristina Touguinha Neves Medina; Talyta Matos Canó; Aline Saliba de Faria
Journal:  Rev Paul Pediatr       Date:  2016-01-06

Review 5.  The genetics of congenital central hypoventilation syndrome: clinical implications.

Authors:  John Bishara; Thomas G Keens; Iris A Perez
Journal:  Appl Clin Genet       Date:  2018-11-15

6.  Conscious sedation with dexmedetomidine for implantation of a phrenic nerve stimulator in a pediatric case of late-onset congenital central hypoventilation syndrome.

Authors:  Keiko Hirooka; Kotoe Kamata; Shiro Horisawa; Minoru Nomura; Takaomi Taira; Makoto Ozaki
Journal:  JA Clin Rep       Date:  2017-08-31

7.  A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Authors:  Nikolai Paul Pace; Michael Pace Bardon; Isabella Borg
Journal:  Mol Genet Genomic Med       Date:  2020-10-13       Impact factor: 2.183
  7 in total

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