Similar articles for PMID: 7833929

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1

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T. Orimo H, et al. Hum Mol Genet. 1994 Sep;3(9):1683-4. doi: 10.1093/hmg/3.9.1683. Hum Mol Genet. 1994. PMID: 7833929 No abstract available.

2

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.

Orimo H, Goseki-Sone M, Sato S, Shimada T. Orimo H, et al. Genomics. 1997 Jun 1;42(2):364-6. doi: 10.1006/geno.1997.4733. Genomics. 1997. PMID: 9192863 No abstract available.

3

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

4

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. Watanabe H, et al. Oral Dis. 2001 Nov;7(6):331-5. doi: 10.1034/j.1601-0825.2001.00740.x. Oral Dis. 2001. PMID: 11834095

5

Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.

Bertola F, Arosio C, Casati G, Piperno A, Crosti F, Colombo C. Bertola F, et al. Hum Genet. 2009 Apr;125(3):334. Hum Genet. 2009. PMID: 19309795 No abstract available.

6

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. Taillandier A, et al. Hum Mutat. 1999;13(2):171-2. doi: 10.1002/(sici)1098-1004(1999)13:2<171::aid-humu16>3.0.co;2-t. Hum Mutat. 1999. PMID: 10094560

7

Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.

Henthorn PS, Whyte MP. Henthorn PS, et al. Clin Chem. 1992 Dec;38(12):2501-5. Clin Chem. 1992. PMID: 1360878 Review.

8

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

9

Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, Sato S, Mayanagi H, Shimada T, Oida S. Goseki-Sone M, et al. Hum Mutat. 1998;Suppl 1:S263-7. doi: 10.1002/humu.1380110184. Hum Mutat. 1998. PMID: 9452105 No abstract available.

10

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.

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