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PUBMED FOR HANDHELDS

Journal Abstract Search


319 related items for PubMed ID: 17282973

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  • 44. A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.
    Miura Y, Watanabe T, Uchida T, Nawa T, Endo N, Fukuzawa T, Ohkubo R, Takeyama J, Sasaki A, Hayasaka K.
    Eur J Med Genet; 2019 Sep; 62(9):103541. PubMed ID: 30227298
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  • 47. 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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  • 48. 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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  • 51. Causative and common PHOX2B variants define a broad phenotypic spectrum.
    Bachetti T, Ceccherini I.
    Clin Genet; 2020 Jan; 97(1):103-113. PubMed ID: 31444792
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  • 55. Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene.
    Ventura F, Barranco R, Bachetti T, Nozza P, Fulcheri E, Palmieri A, Ceccherini I.
    J Forensic Leg Med; 2018 Aug; 58():1-5. PubMed ID: 29679838
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  • 56. A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.
    Low KJ, Turnbull AR, Smith KR, Hilliard TN, Hole LJ, Meecham Jones DJ, Williams MM, Donaldson A.
    Pediatr Pulmonol; 2014 Oct; 49(10):E140-3. PubMed ID: 24799442
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  • 58. Later Onset Congenital Central Hypoventilation Syndrome.
    Amos L.
    Med Clin North Am; 2024 Jan; 108(1):215-226. PubMed ID: 37951652
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