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Journal Abstract Search

189 related items for PubMed ID: 23791648

  • 1. 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; 56(2):390-7. PubMed ID: 23791648
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  • 2. 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; 47(4):111-115. PubMed ID: 37408354
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  • 3. Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
    Foster BL, Sheen CR, Hatch NE, Liu J, Cory E, Narisawa S, Kiffer-Moreira T, Sah RL, Whyte MP, Somerman MJ, Millán JL.
    J Dent Res; 2015 May; 94(5):706-14. PubMed ID: 25716980
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  • 4. 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
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  • 5. 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; 115(4):180-5. PubMed ID: 25982064
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  • 7. 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
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  • 11. 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
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  • 14. A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.
    Oto Y, Suzuki D, Morita T, Inoue T, Nitta A, Murakami N, Abe Y, Hamada Y, Akiyama T, Matsubara T.
    J Pediatr Endocrinol Metab; 2024 Mar 25; 37(3):276-279. PubMed ID: 38310522
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  • 16. A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
    Martins L, Dos Santos EL, de Almeida AB, Machado RA, Lyrio AM, Foster BL, Kantovitz KR, Coletta RD, Nociti FH.
    Osteoporos Int; 2020 Nov 25; 31(11):2251-2257. PubMed ID: 32572521
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  • 17. 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
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  • 18. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
    Martins L, Lessa LGF, Ali TM, Lazar M, Kim CA, Kantovitz KR, Santamaria MP, Araújo CF, Ramos CJ, Foster BL, Franco JFS, Bertola D, Nociti FH.
    Int J Mol Sci; 2022 Dec 23; 24(1):. PubMed ID: 36613725
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