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PUBMED FOR HANDHELDS

Journal Abstract Search

345 related items for PubMed ID: 26418987

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  • 2. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
    Wang TC, Su YN, Lai MC.
    Pediatr Neonatol; 2014 Feb; 55(1):68-70. PubMed ID: 23597545
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  • 6. Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
    Klaskova E, Drabek J, Hobzova M, Smolka V, Seda M, Hyjanek J, Slavkovsky R, Stranska J, Prochazka M.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Dec; 160(4):495-498. PubMed ID: 27485184
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  • 7. Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.
    Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.
    Pediatr Pulmonol; 2014 Mar; 49(3):E45-7. PubMed ID: 23460545
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  • 9. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
    Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB.
    Am J Med Genet A; 2018 Jul; 176(7):1627-1631. PubMed ID: 29704303
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  • 15. 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; 98(1):192-5. PubMed ID: 18798833
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  • 17. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
    Pace NP, Pace Bardon M, Borg I.
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
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  • 19. Novel PHOX2B mutations in congenital central hypoventilation syndrome.
    Sasaki A, Kishikawa Y, Imaji R, Fukushima Y, Nakamura Y, Nishimura Y, Yamada M, Mino Y, Mitsui T, Hayasaka K.
    Pediatr Int; 2019 Apr; 61(4):393-396. PubMed ID: 30786110
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