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Journal Abstract Search

259 related items for PubMed ID: 26219705

  • 1. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations.
    Mornet E.
    Subcell Biochem; 2015; 76():25-43. PubMed ID: 26219705
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Kinetic characterization of hypophosphatasia mutations with physiological substrates.
    Di Mauro S, Manes T, Hessle L, Kozlenkov A, Pizauro JM, Hoylaerts MF, Millán JL.
    J Bone Miner Res; 2002 Aug; 17(8):1383-91. PubMed ID: 12162492
    [Abstract] [Full Text] [Related]

  • 4. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
    Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W.
    Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
    [Abstract] [Full Text] [Related]

  • 5. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
    Hofmann C, Liese J, Schwarz T, Kunzmann S, Wirbelauer J, Nowak J, Hamann J, Girschick H, Graser S, Dietz K, Zeck S, Jakob F, Mentrup B.
    Bone; 2013 Jul; 55(1):150-7. PubMed ID: 23454488
    [Abstract] [Full Text] [Related]

  • 6. A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.
    Martins L, de Almeida AB, Dos Santos EJL, Foster BL, Machado RA, Kantovitz KR, Coletta RD, Nociti FH.
    Bone; 2019 Aug; 125():128-139. PubMed ID: 31077853
    [Abstract] [Full Text] [Related]

  • 7. Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia.
    Wei KW, Xuan K, Liu YL, Fang J, Ji K, Wang X, Jin Y, Watanabe S, Watanabe K, Ojihara T.
    Arch Oral Biol; 2010 Dec; 55(12):1017-23. PubMed ID: 20828673
    [Abstract] [Full Text] [Related]

  • 8. Correlations of genotype and phenotype in hypophosphatasia.
    Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E.
    Hum Mol Genet; 1999 Jun; 8(6):1039-46. PubMed ID: 10332035
    [Abstract] [Full Text] [Related]

  • 9. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
    Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.
    Am J Med Genet A; 2017 Mar; 173(3):601-610. PubMed ID: 28127875
    [Abstract] [Full Text] [Related]

  • 10. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
    García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, Gómez Vida JM, de Haro T, García-Fontana B, Muñoz-Torres M.
    Sci Rep; 2019 Jul 02; 9(1):9569. PubMed ID: 31267001
    [Abstract] [Full Text] [Related]

  • 11. Genetics of hypophosphatasia.
    Mornet E.
    Arch Pediatr; 2017 May 02; 24(5S2):5S51-5S56. PubMed ID: 29405932
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 133(1):113-121. PubMed ID: 33814268
    [Abstract] [Full Text] [Related]

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  • 14. Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
    Masi L, Marini F, Franceschelli F, Leoncini G, Cianferotti L, Cioppi F, Giusti F, Marcucci G, Gronchi G, Brandi ML.
    Osteoporos Int; 2021 Dec 02; 32(12):2461-2472. PubMed ID: 34097127
    [Abstract] [Full Text] [Related]

  • 15. Hypophosphatasia.
    Mornet E.
    Metabolism; 2018 May 02; 82():142-155. PubMed ID: 28939177
    [Abstract] [Full Text] [Related]

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  • 17. Mutational and biochemical findings in adults with persistent hypophosphatasemia.
    McKiernan FE, Dong J, Berg RL, Scotty E, Mundt P, Larson L, Rai I.
    Osteoporos Int; 2017 Aug 02; 28(8):2343-2348. PubMed ID: 28401263
    [Abstract] [Full Text] [Related]

  • 18. Clinical Forms and Animal Models of Hypophosphatasia.
    Salles JP.
    Subcell Biochem; 2015 Aug 02; 76():3-24. PubMed ID: 26219704
    [Abstract] [Full Text] [Related]

  • 19. Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia.
    Liu J, Nam HK, Campbell C, Gasque KC, Millán JL, Hatch NE.
    Bone; 2014 Oct 02; 67():81-94. PubMed ID: 25014884
    [Abstract] [Full Text] [Related]

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