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Results: 1 to 20 of 106

Similar articles for PubMed (Select 11760847)

1.

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.

PMID:
11760847
2.

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.

PMID:
11834095
3.
4.

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 4;327(1):124-9.

PMID:
15629439
5.

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.

PMID:
11855933
6.

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. doi: 10.1016/j.bbadis.2010.12.002. Epub 2010 Dec 17.

7.

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.

PMID:
15137467
8.
9.

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.

Orimo H, Goseki-Sone M, Inoue M, Tsubakio Y, Sakiyama T, Shimada T.

J Bone Miner Metab. 2002;20(1):28-33.

PMID:
11810413
11.

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.

PMID:
11438998
12.

Correlations of genotype and phenotype in hypophosphatasia.

Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E.

Hum Mol Genet. 1999 Jun;8(6):1039-46.

13.

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.

PMID:
10690885
14.

A molecular approach to dominance in hypophosphatasia.

Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E.

Hum Genet. 2001 Jul;109(1):99-108.

PMID:
11479741
15.
16.

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.

PMID:
9844100
17.

Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K.

J Biochem. 1998 May;123(5):968-77.

18.

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.

PMID:
12412800
19.
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.

PMID:
10679946
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