BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 10834525)

  • 1. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
    Mochizuki H; Saito M; Michigami T; Ohashi H; Koda N; Yamaguchi S; Ozono K
    Eur J Pediatr; 2000 May; 159(5):375-9. PubMed ID: 10834525
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
    Michigami T; Uchihashi T; Suzuki A; Tachikawa K; Nakajima S; Ozono K
    Eur J Pediatr; 2005 May; 164(5):277-82. PubMed ID: 15660230
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 13(1):101. PubMed ID: 31014398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
    Stoll C; Fischbach M; Terzic J; Alembik Y; Vuillemin MO; Mornet E
    Genet Couns; 2002; 13(3):289-95. PubMed ID: 12416636
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 18(1):83-4. PubMed ID: 11438998
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
    Taillandier A; Sallinen SL; Brun-Heath I; De Mazancourt P; Serre JL; Mornet E
    J Clin Endocrinol Metab; 2005 Apr; 90(4):2436-9. PubMed ID: 15671102
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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; 52(10):824-8. PubMed ID: 24378058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
    Sugimoto N; Iwamoto S; Hoshino Y; Kajii E
    J Hum Genet; 1998; 43(3):160-4. PubMed ID: 9747027
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
    Müller HL; Yamazaki M; Michigami T; Kageyama T; Schönau E; Schneider P; Ozono K
    J Clin Endocrinol Metab; 2000 Feb; 85(2):743-7. PubMed ID: 10690885
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Congenital hypophosphatasia].
    Terheggen HG; Wischermann A
    Monatsschr Kinderheilkd; 1984 Jul; 132(7):512-22. PubMed ID: 6147751
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
    Henthorn PS; Whyte MP
    Clin Chem; 1992 Dec; 38(12):2501-5. PubMed ID: 1360878
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
    Petković Ramadza D; Stipoljev F; Sarnavka V; Begović D; Potocki K; Fumić K; Mornet E; Barić I
    Coll Antropol; 2009 Dec; 33(4):1255-8. PubMed ID: 20102078
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
    Ozono K; Yamagata M; Michigami T; Nakajima S; Sakai N; Cai G; Satomura K; Yasui N; Okada S; Nakayama M
    J Clin Endocrinol Metab; 1996 Dec; 81(12):4458-61. PubMed ID: 8954059
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
    Henthorn PS; Raducha M; Fedde KN; Lafferty MA; Whyte MP
    Proc Natl Acad Sci U S A; 1992 Oct; 89(20):9924-8. PubMed ID: 1409720
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
    Komaru K; Satou Y; Al-Shawafi HA; Numa-Kinjoh N; Sohda M; Oda K
    FEBS J; 2016 Mar; 283(6):1168-79. PubMed ID: 26797772
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.
    Zhang H; Ke YH; Wang C; Yue H; Hu WW; Gu JM; Zhang ZL
    Arch Med Res; 2012 Jan; 43(1):21-30. PubMed ID: 22300680
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
    Demirbilek H; Alanay Y; Alikaşifoğlu A; Topçu M; Mornet E; Gönç N; Özön A; Kandemir N
    J Clin Res Pediatr Endocrinol; 2012 Mar; 4(1):34-8. PubMed ID: 22394703
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
    Park EG; Cho SY; Lee J; Kim J; Cho H; Kim J; Huh R; Ki CS; Kim OH; Jin DK
    Ann Clin Lab Sci; 2016 May; 46(3):302-7. PubMed ID: 27312557
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
    Litmanovitz ; Reish O; Dolfin T; Arnon S; Regev R; Grinshpan G; Yamazaki M; Ozono K
    J Inherit Metab Dis; 2002 Feb; 25(1):35-40. PubMed ID: 11999978
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.