BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

511 related articles for article (PubMed ID: 10737975)

  • 1. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
    Mornet E
    Hum Mutat; 2000; 15(4):309-15. PubMed ID: 10737975
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.
    Hérasse M; Spentchian M; Taillandier A; Mornet E
    Eur J Hum Genet; 2002 Oct; 10(10):666-8. PubMed ID: 12357339
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
    Mumm S; Jones J; Finnegan P; Henthorn PS; Podgornik MN; Whyte MP
    Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
    Spentchian M; Merrien Y; Herasse M; Dobbie Z; Gläser D; Holder SE; Ivarsson SA; Kostiner D; Mansour S; Norman A; Roth J; Stipoljev F; Taillemite JL; van der Smagt JJ; Serre JL; Simon-Bouy B; Taillandier A; Mornet E
    Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
    Watanabe H; Takinami H; Goseki-Sone M; Orimo H; Hamatani R; Ishikawa I
    Biochem Biophys Res Commun; 2005 Feb; 327(1):124-9. PubMed ID: 15629439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
    Mornet E; Taillandier A; Peyramaure S; Kaper F; Muller F; Brenner R; Bussière P; Freisinger P; Godard J; Le Merrer M; Oury JF; Plauchu H; Puddu R; Rival JM; Superti-Furga A; Touraine RL; Serre JL; Simon-Bouy B
    Eur J Hum Genet; 1998; 6(4):308-14. PubMed ID: 9781036
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
    Taillandier A; Cozien E; Muller F; Merrien Y; Bonnin E; Fribourg C; Simon-Bouy B; Serre JL; Bieth E; Brenner R; Cordier MP; De Bie S; Fellmann F; Freisinger P; Hesse V; Hennekam RC; Josifova D; Kerzin-Storrar L; Leporrier N; Zabot MT; Mornet E
    Hum Mutat; 2000 Mar; 15(3):293. PubMed ID: 10679946
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Positive maternal serum triple test screening in severe early onset hypophosphatasia.
    Witters I; Moerman P; Mornet E; Fryns JP
    Prenat Diagn; 2004 Jul; 24(7):494-7. PubMed ID: 15300736
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
    Brun-Heath I; Taillandier A; Serre JL; Mornet E
    Mol Genet Metab; 2005 Mar; 84(3):273-7. PubMed ID: 15694177
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Tissue-nonspecific alkaline phosphatase and hypophosphatasia].
    Oda K; Kinjoh NN; Sohda M; Komaru K; Amizuka N
    Clin Calcium; 2014 Feb; 24(2):233-9. PubMed ID: 24473356
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
    Brun-Heath I; Chabrol E; Fox M; Drexler K; Petit C; Taillandier A; De Mazancourt P; Serre JL; Mornet E
    Clin Genet; 2008 Mar; 73(3):245-50. PubMed ID: 17922851
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
    Nasu M; Ito M; Ishida Y; Numa N; Komaru K; Nomura S; Oda K
    FEBS J; 2006 Dec; 273(24):5612-24. PubMed ID: 17212778
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.
    Watanabe H; Goseki-Sone M; Orimo H; Hamatani R; Takinami H; Ishikawa I
    J Bone Miner Res; 2002 Nov; 17(11):1945-8. PubMed ID: 12412800
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.
    Takinami H; Goseki-Sone M; Watanabe H; Orimo H; Hamatani R; Fukushi-Irie M; Ishikawa I
    J Med Dent Sci; 2004 Mar; 51(1):67-74. PubMed ID: 15137467
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.
    Goseki-Sone M; Orimo H; Iimura T; Miyazaki H; Oda K; Shibata H; Yanagishita M; Takagi Y; Watanabe H; Shimada T; Oida S
    J Bone Miner Res; 1998 Dec; 13(12):1827-34. PubMed ID: 9844100
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
    Makita S; Al-Shawafi HA; Sultana S; Sohda M; Nomura S; Oda K
    FEBS J; 2012 Dec; 279(23):4327-37. PubMed ID: 23039266
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
    Orimo H; Girschick HJ; Goseki-Sone M; Ito M; Oda K; Shimada T
    J Bone Miner Res; 2001 Dec; 16(12):2313-9. PubMed ID: 11760847
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.