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Journal Abstract Search

142 related items for PubMed ID: 28881669

  • 1. Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline phosphatase gene.
    Wan J, Zhang L, Liu T, Wang Y.
    Oncotarget; 2017 Aug 01; 8(31):51569-51577. PubMed ID: 28881669
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  • 2. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
    Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I.
    Oral Dis; 2001 Nov 01; 7(6):331-5. PubMed ID: 11834095
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  • 3. Molecular diagnosis of hypophosphatasia with severe periodontitis.
    Watanabe H, Goseki-Sone M, Iimura T, Oida S, Orimo H, Ishikawa I.
    J Periodontol; 1999 Jun 01; 70(6):688-91. PubMed ID: 10397525
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  • 6. Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.
    Jiang J, Li H, Kong H, Zeng X, Gou L, Xu J.
    J Clin Pediatr Dent; 2023 Jul 01; 47(4):111-115. PubMed ID: 37408354
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  • 8. Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.
    Haliloglu B, Guran T, Atay Z, Abali S, Mornet E, Bereket A, Turan S.
    Eur J Pediatr; 2013 Jun 01; 172(6):851-3. PubMed ID: 23093139
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  • 9. [Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
    Zhao Z, Xia WB, Xing XP, Li M, Wang O, Jiang Y, Xu LJ, Li N.
    Zhonghua Nei Ke Za Zhi; 2013 Oct 01; 52(10):824-8. PubMed ID: 24378058
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  • 11. Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.
    Fukushima K, Kawai-Kowase K, Yonemoto Y, Fujiwara M, Sato H, Sato M, Kubota T, Ozono K, Tamura J.
    J Med Case Rep; 2019 Apr 24; 13(1):101. PubMed ID: 31014398
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  • 12. Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
    Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K.
    Mol Genet Metab; 2015 Aug 24; 115(4):180-5. PubMed ID: 25982064
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  • 15. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
    Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E.
    Hum Mutat; 2001 Aug 24; 18(1):83-4. PubMed ID: 11438998
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  • 19. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
    Whyte MP.
    Nat Rev Endocrinol; 2016 Apr 24; 12(4):233-46. PubMed ID: 26893260
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  • 20. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
    Sawai H, Kanazawa N, Tsukahara Y, Koike K, Udagawa H, Koyama K, Mornet E.
    Prenat Diagn; 2003 Sep 24; 23(9):743-6. PubMed ID: 12975786
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