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Journal Abstract Search

242 related items for PubMed ID: 28686331

  • 21. Myelomeningocele before birth.
    Osaka K, Tanimura T, Hirayama A, Matsumoto S.
    J Neurosurg; 1978 Nov; 49(5):711-24. PubMed ID: 712393
    [Abstract] [Full Text] [Related]

  • 22. Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
    Niu Z, Mei L, Tang F, Li J, Wang X, Sun J, He C, Cheng H, Liu Y, Cai X, Song J, Feng Y, Jiang L.
    Eur Arch Otorhinolaryngol; 2021 Aug; 278(8):2807-2815. PubMed ID: 32940795
    [Abstract] [Full Text] [Related]

  • 23. First-time tethered cord release among adults with myelomeningocele: an analysis of people in the National Spina Bifida Patient Registry.
    Dias MS, Wang M, Liang M, Rizk EB, Bowman R, Partington MD, Blount JP, Rocque BG, Hopson B, Lee A, Walker WO.
    J Neurosurg Spine; 2023 Oct 01; 39(4):527-533. PubMed ID: 37347622
    [Abstract] [Full Text] [Related]

  • 24. The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
    Morell R, Friedman TB, Asher JH, Robbins LG.
    J Med Genet; 1997 Jun 01; 34(6):447-52. PubMed ID: 9192262
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  • 25. Homozygosity for Waardenburg syndrome.
    Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D.
    Am J Hum Genet; 1995 May 01; 56(5):1173-8. PubMed ID: 7726174
    [Abstract] [Full Text] [Related]

  • 26. Screening for novel PAX3 polymorphisms and risks of spina bifida.
    Lu W, Zhu H, Wen S, Laurent C, Shaw GM, Lammer EJ, Finnell RH.
    Birth Defects Res A Clin Mol Teratol; 2007 Jan 01; 79(1):45-9. PubMed ID: 17149730
    [Abstract] [Full Text] [Related]

  • 27. Co-morbidities Associated With Early Mortality in Adults With Spina Bifida.
    Dicianno BE, Sherman A, Roehmer C, Zigler CK.
    Am J Phys Med Rehabil; 2018 Dec 01; 97(12):861-865. PubMed ID: 29757766
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  • 31. Biallelic variants in PAX3 cause Klein syndrome.
    Salah S, Meiner V, Abumayaleh A, Asafra A, Al-Sharif T, Al-Fallah O, Hasasneh B, Zlotogora J.
    Clin Genet; 2022 Sep 01; 102(3):223-227. PubMed ID: 35607853
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  • 33. Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
    Jang MA, Lee T, Lee J, Cho EH, Ki CS.
    Ann Lab Med; 2015 May 01; 35(3):362-5. PubMed ID: 25932447
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  • 36. A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.
    Xiao Y, Luo J, Zhang F, Li J, Han Y, Zhang D, Wang M, Ma Y, Xu L, Bai X, Wang H.
    Acta Otolaryngol; 2016 May 01; 136(5):439-45. PubMed ID: 26824486
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  • 37. Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.
    Chen K, Zhan Y, Wu X, Zong L, Jiang H.
    Int J Pediatr Otorhinolaryngol; 2018 Jan 01; 104():200-204. PubMed ID: 29287868
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  • 39. A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.
    Guo M, Li Q, Jiang C, Li S, Ruan B.
    Int J Pediatr Otorhinolaryngol; 2021 Aug 01; 147():110758. PubMed ID: 34038854
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  • 40. The value of MLPA in Waardenburg syndrome.
    Milunsky JM, Maher TA, Ito M, Milunsky A.
    Genet Test; 2007 Aug 01; 11(2):179-82. PubMed ID: 17627390
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