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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

198 related items for PubMed ID: 32375736

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  • 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
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  • 6. Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.
    Khorasanian R, Mojbafan M, Khosravi N.
    Mol Biol Rep; 2021 Dec; 48(12):8239-8243. PubMed ID: 34626313
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  • 7. 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
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  • 11. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.
    Paglietti MG, Cherchi C, Porcaro F, Agolini E, Schiavino A, Petreschi F, Novelli A, Cutrera R.
    Ital J Pediatr; 2019 Apr 18; 45(1):49. PubMed ID: 30999961
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  • 13. Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
    Schirwani S, Pysden K, Chetcuti P, Blyth M.
    J Clin Sleep Med; 2017 Nov 15; 13(11):1359-1362. PubMed ID: 28992836
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  • 17. 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 15; 50():187-200. PubMed ID: 23103552
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