186 related articles for article (PubMed ID: 11547844)
1. Hypophosphatasia: molecular diagnosis of Rathbun's original case.
Mumm S; Jones J; Finnegan P; Whyte MP
J Bone Miner Res; 2001 Sep; 16(9):1724-7. PubMed ID: 11547844
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations.
Henthorn PS; Whyte MP
Prenat Diagn; 1995 Nov; 15(11):1001-6. PubMed ID: 8606878
[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. 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. Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood.
Khandwala HM; Mumm S; Whyte MP
Endocr Pract; 2006; 12(6):676-81. PubMed ID: 17229666
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. [Case report on hypophosphatasia (Rathbun's disease)].
Hähnel H
Z Arztl Fortbild (Jena); 1977 Dec; 71(24):1188-92. PubMed ID: 602291
[No Abstract] [Full Text] [Related]
9. 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]
10. Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
Yang H; Wang L; Geng J; Yu T; Yao RE; Shen Y; Yin L; Ying D; Huang R; Zhou Y; Chen H; Liu L; Mo X; Shen Y; Fu Q; Yu Y
Cell Physiol Biochem; 2013; 32(3):635-44. PubMed ID: 24022022
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Watanabe H; Hashimoto-Uoshima M; Goseki-Sone M; Orimo H; Ishikawa I
Oral Dis; 2001 Nov; 7(6):331-5. PubMed ID: 11834095
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nat Rev Endocrinol; 2016 Apr; 12(4):233-46. PubMed ID: 26893260
[TBL] [Abstract][Full Text] [Related]
15. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Ishida Y; Komaru K; Oda K
Biochim Biophys Acta; 2011 Mar; 1812(3):326-32. PubMed ID: 21168482
[TBL] [Abstract][Full Text] [Related]
16. Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
Fukushi-Irié M; Ito M; Amaya Y; Amizuka N; Ozawa H; Omura S; Ikehara Y; Oda K
Biochem J; 2000 Jun; 348 Pt 3(Pt 3):633-42. PubMed ID: 10839996
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato M; Hattori T; Shimizu T; Ninagawa K; Izumihara R; Nomoto H; Tanimura K; Atsumi T
J Bone Miner Metab; 2020 Nov; 38(6):903-907. PubMed ID: 32772198
[TBL] [Abstract][Full Text] [Related]
19. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.
Taillandier A; Zurutuza L; Muller F; Simon-Bouy B; Serre JL; Bird L; Brenner R; Boute O; Cousin J; Gaillard D; Heidemann PH; Steinmann B; Wallot M; Mornet E
Hum Mutat; 1999; 13(2):171-2. PubMed ID: 10094560
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]