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PUBMED FOR HANDHELDS

Journal Abstract Search


302 related items for PubMed ID: 24276437

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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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  • 3. 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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  • 4. Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.
    Xu L, Pang Q, Jiang Y, Wang O, Li M, Xing X, Xia W.
    Biosci Rep; 2018 Aug 31; 38(4):. PubMed ID: 29724887
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  • 6. 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 31; 106(3):221-231. PubMed ID: 31707452
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  • 7. 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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  • 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 28; 173(3):601-610. PubMed ID: 28127875
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  • 12. Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.
    Ozono K, Michigami T.
    J Hum Genet; 2011 Mar 28; 56(3):174-6. PubMed ID: 21307860
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  • 15. 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
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  • 16. Perinatal hypophosphatasia caused by uniparental isodisomy.
    Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.
    Bone; 2014 Mar 02; 60():93-7. PubMed ID: 24334170
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  • 17. Neurological Symptoms of Hypophosphatasia.
    Taketani T.
    Subcell Biochem; 2015 Mar 02; 76():309-22. PubMed ID: 26219717
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