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Items: 1 to 20 of 190

1.

Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.

Zhang H, Ke YH, Wang C, Yue H, Hu WW, Gu JM, Zhang ZL.

Arch Med Res. 2012 Jan;43(1):21-30. doi: 10.1016/j.arcmed.2012.01.004. Epub 2012 Jan 31.

PMID:
22300680
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.

PMID:
11438998
3.

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
4.

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.

J Clin Endocrinol Metab. 2005 Apr;90(4):2436-9. Epub 2005 Jan 25.

PMID:
15671102
5.

[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].

Zhao Z, Xia WB, Xing XP, Li M, Wang O, Jiang Y, Xu LJ, Li N.

Zhonghua Nei Ke Za Zhi. 2013 Oct;52(10):824-8. Chinese.

PMID:
24378058
6.

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. doi: 10.1159/000354467. Epub 2013 Sep 10.

7.
8.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.

Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27.

PMID:
28127875
10.

Molecular diagnosis of hypophosphatasia with severe periodontitis.

Watanabe H, Goseki-Sone M, Iimura T, Oida S, Orimo H, Ishikawa I.

J Periodontol. 1999 Jun;70(6):688-91.

PMID:
10397525
11.

Perinatal hypophosphatasia caused by uniparental isodisomy.

Watanabe A, Satoh S, Fujita A, Naing BT, Orimo H, Shimada T.

Bone. 2014 Mar;60:93-7. doi: 10.1016/j.bone.2013.12.009. Epub 2013 Dec 12.

PMID:
24334170
12.
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. Epub 2007 Oct 7.

PMID:
17922851
14.

Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):147-55.

PMID:
10575540
15.

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.

PMID:
10094560
16.

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
17.

Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.

Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH Jr.

Bone. 2013 Oct;56(2):390-7. doi: 10.1016/j.bone.2013.06.010. Epub 2013 Jun 19.

18.

Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia.

Wei KW, Xuan K, Liu YL, Fang J, Ji K, Wang X, Jin Y, Watanabe S, Watanabe K, Ojihara T.

Arch Oral Biol. 2010 Dec;55(12):1017-23. doi: 10.1016/j.archoralbio.2010.08.003. Epub 2010 Sep 9.

PMID:
20828673
19.

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.

Chang KC, Lin PH, Su YN, Peng SS, Lee NC, Chou HC, Chen CY, Hsieh WS, Tsao PN.

J Bone Miner Metab. 2012 Jan;30(1):109-13. doi: 10.1007/s00774-011-0282-8. Epub 2011 Jun 4.

PMID:
21638016
20.

Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

Silvent J, Gasse B, Mornet E, Sire JY.

J Biol Chem. 2014 Aug 29;289(35):24168-79. doi: 10.1074/jbc.M114.576843. Epub 2014 Jul 14.

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