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Journal Abstract Search

209 related items for PubMed ID: 31707452

  • 1. Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
    Michigami T, Tachikawa K, Yamazaki M, Kawai M, Kubota T, Ozono K.
    Calcif Tissue Int; 2020 Mar; 106(3):221-231. PubMed ID: 31707452
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  • 2. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
    Watanabe A, Karasugi T, Sawai H, Naing BT, Ikegawa S, Orimo H, Shimada T.
    J Hum Genet; 2011 Feb; 56(2):166-8. PubMed ID: 21179104
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  • 4. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
    Uday S, Matsumura T, Saraff V, Saito S, Orimo H, Högler W.
    Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
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  • 5. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
    Glotov OS, Savostyanov KV, Nagornova TS, Chernov AN, Fedyakov MA, Raspopova AN, Krasnoukhov KN, Danilov LG, Moiseeva NV, Kalinin RS, Tsai VV, Eismont YA, Voinova VY, Vitebskaya AV, Gurkina EY, Kuzenkova LM, Sosnina IB, Pushkov AA, Zhanin IS, Zakharova EY.
    Int J Mol Sci; 2022 Oct 26; 23(21):. PubMed ID: 36361766
    [Abstract] [Full Text] [Related]

  • 6. Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
    Mao X, Liu S, Lin Y, Chen Z, Shao Y, Yu Q, Liu H, Lu Z, Sheng H, Lu X, Huang Y, Liu L, Zeng C.
    BMC Pediatr; 2019 Nov 25; 19(1):456. PubMed ID: 31760938
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  • 7. Perinatal hypophosphatasia caused by uniparental isodisomy.
    Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.
    Bone; 2014 Mar 25; 60():93-7. PubMed ID: 24334170
    [Abstract] [Full Text] [Related]

  • 8. Utility of genetic testing for prenatal presentations of hypophosphatasia.
    Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E.
    Mol Genet Metab; 2021 Mar 25; 132(3):198-203. PubMed ID: 33549410
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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
    Mornet E, Taillandier A, Domingues C, Dufour A, Benaloun E, Lavaud N, Wallon F, Rousseau N, Charle C, Guberto M, Muti C, Simon-Bouy B.
    Eur J Hum Genet; 2021 Feb 24; 29(2):289-299. PubMed ID: 32973344
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  • 12. Clinical and genetic aspects of hypophosphatasia in Japanese patients.
    Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.
    Arch Dis Child; 2014 Mar 24; 99(3):211-5. PubMed ID: 24276437
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  • 13. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
    Kishnani PS, Del Angel G, Zhou S, Rush ET.
    Mol Genet Metab; 2021 May 24; 133(1):113-121. PubMed ID: 33814268
    [Abstract] [Full Text] [Related]

  • 14. Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
    Dahir KM, Tilden DR, Warner JL, Bastarache L, Smith DK, Gifford A, Ramirez AH, Simmons JS, Black MM, Newman JH, Denny JC.
    J Clin Endocrinol Metab; 2018 Jun 01; 103(6):2234-2243. PubMed ID: 29659871
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  • 15. Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
    Okawa R, Kokomoto K, Kitaoka T, Kubota T, Watanabe A, Taketani T, Michigami T, Ozono K, Nakano K.
    PLoS One; 2019 Jun 01; 14(10):e0222931. PubMed ID: 31600233
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  • 16. Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
    Matsuda N, Takasawa K, Ohata Y, Takishima S, Kubota T, Ishihara Y, Fujiwara M, Ogawa E, Morio T, Kashimada K, Ozono K.
    Endocr J; 2020 Dec 28; 67(12):1227-1232. PubMed ID: 32779619
    [Abstract] [Full Text] [Related]

  • 17. Genetics of hypophosphatasia.
    Mornet E.
    Arch Pediatr; 2017 May 28; 24(5S2):5S51-5S56. PubMed ID: 29405932
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  • 19. Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
    Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH.
    Bone; 2013 Oct 28; 56(2):390-7. PubMed ID: 23791648
    [Abstract] [Full Text] [Related]

  • 20. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
    Yu F, Wang J, Xu X.
    BMC Pediatr; 2019 Apr 13; 19(1):109. PubMed ID: 30979366
    [Abstract] [Full Text] [Related]

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