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460 related items for PubMed ID: 26378991

  • 1. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
    Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE.
    Chest; 2016 Mar; 149(3):809-15. PubMed ID: 26378991
    [Abstract] [Full Text] [Related]

  • 2. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.
    Patwari PP, Stewart TM, Rand CM, Carroll MS, Kuntz NL, Kenny AS, Brogadir CD, Weese-Mayer DE.
    Pediatr Res; 2012 Mar; 71(3):280-5. PubMed ID: 22278185
    [Abstract] [Full Text] [Related]

  • 3. Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.
    Lee MJ, Park JS, Kim K, Ko JM, Park JD, Suh DI.
    Eur J Pediatr; 2024 Aug; 183(8):3479-3487. PubMed ID: 38780650
    [Abstract] [Full Text] [Related]

  • 4. Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.
    Joseph L, Goldberg S, Shahroor S, Gomori M, Mimouni FB, Picard E.
    Pediatr Pulmonol; 2011 Aug; 46(8):826-8. PubMed ID: 21465679
    [Abstract] [Full Text] [Related]

  • 5. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
    Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.
    Pediatr Pulmonol; 2008 Jan; 43(1):77-86. PubMed ID: 18041756
    [Abstract] [Full Text] [Related]

  • 6. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
    Evers-Bikker EE, de Weerd W, Wijkstra PJ, Corel L, Verweij LP, Vosse BAH.
    Eur J Pediatr; 2024 Feb; 183(2):791-797. PubMed ID: 38001308
    [Abstract] [Full Text] [Related]

  • 7. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.
    Neurobiol Dis; 2013 Feb; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

  • 8. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.
    Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K.
    Pediatr Pulmonol; 2014 Feb; 49(2):E13-6. PubMed ID: 23460419
    [Abstract] [Full Text] [Related]

  • 9. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL, Bradshaw WT.
    Neonatal Netw; 2011 Feb; 30(6):397-401. PubMed ID: 22052119
    [Abstract] [Full Text] [Related]

  • 10. Hyperthyroidism hidden by congenital central hypoventilation syndrome.
    Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):705-8. PubMed ID: 25581741
    [Abstract] [Full Text] [Related]

  • 11. Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
    Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE.
    Am J Med Genet A; 2019 Mar; 179(3):503-506. PubMed ID: 30672101
    [Abstract] [Full Text] [Related]

  • 12. Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.
    Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE.
    J Appl Physiol (1985); 2014 Feb 15; 116(4):439-50. PubMed ID: 24381123
    [Abstract] [Full Text] [Related]

  • 13. [Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].
    Yan Y, Yi B, Liu D, Zhao F, Zhang C, Chen X, Hao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct 15; 32(5):665-9. PubMed ID: 26418987
    [Abstract] [Full Text] [Related]

  • 14. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
    Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.
    Am J Med Genet A; 2003 Dec 15; 123A(3):267-78. PubMed ID: 14608649
    [Abstract] [Full Text] [Related]

  • 15. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.
    Pediatr Pulmonol; 2009 Jun 15; 44(6):521-35. PubMed ID: 19422034
    [Abstract] [Full Text] [Related]

  • 16. Peripheral chemoreceptors in congenital central hypoventilation syndrome.
    Perez IA, Keens TG.
    Respir Physiol Neurobiol; 2013 Jan 01; 185(1):186-93. PubMed ID: 23099221
    [Abstract] [Full Text] [Related]

  • 17. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
    Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H.
    J Clin Sleep Med; 2014 Mar 15; 10(3):327-9. PubMed ID: 24634632
    [Abstract] [Full Text] [Related]

  • 18. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
    Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE.
    Acta Paediatr; 2009 Jan 15; 98(1):192-5. PubMed ID: 18798833
    [Abstract] [Full Text] [Related]

  • 19. Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.
    Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE.
    Pediatr Res; 2017 Jan 15; 81(1-2):192-201. PubMed ID: 27673423
    [Abstract] [Full Text] [Related]

  • 20. Congenital central hypoventilation syndrome: diagnosis and management.
    Maloney MA, Kun SS, Keens TG, Perez IA.
    Expert Rev Respir Med; 2018 Apr 15; 12(4):283-292. PubMed ID: 29486608
    [Abstract] [Full Text] [Related]

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