Similar articles for PMID: 12357339

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1

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. Hérasse M, et al. Eur J Hum Genet. 2002 Oct;10(10):666-8. doi: 10.1038/sj.ejhg.5200857. Eur J Hum Genet. 2002. PMID: 12357339

2

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

Mornet E. Mornet E. Hum Mutat. 2000;15(4):309-15. doi: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C. Hum Mutat. 2000. PMID: 10737975 Review.

3

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. Sugimoto N, et al. J Hum Genet. 1998;43(3):160-4. doi: 10.1007/s100380050061. J Hum Genet. 1998. PMID: 9747027

4

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. Mornet E, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036

5

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. Nasu M, et al. FEBS J. 2006 Dec;273(24):5612-24. doi: 10.1111/j.1742-4658.2006.05550.x. FEBS J. 2006. PMID: 17212778 Free article.

6

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. Mumm S, et al. Mol Genet Metab. 2002 Feb;75(2):143-53. doi: 10.1006/mgme.2001.3283. Mol Genet Metab. 2002. PMID: 11855933

7

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. Taillandier A, et al. Hum Mutat. 2000 Mar;15(3):293. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10679946

8

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. Taillandier A, et al. Hum Mutat. 2001;18(1):83-4. doi: 10.1002/humu.1154. Hum Mutat. 2001. PMID: 11438998

9

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. Taillandier A, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2436-9. doi: 10.1210/jc.2004-1456. Epub 2005 Jan 25. J Clin Endocrinol Metab. 2005. PMID: 15671102

10

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. Watanabe H, et al. Biochem Biophys Res Commun. 2005 Feb 4;327(1):124-9. doi: 10.1016/j.bbrc.2004.11.155. Biochem Biophys Res Commun. 2005. PMID: 15629439

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