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Results: 1 to 20 of 257

Similar articles for PubMed (Select 11479741)

1.

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
2.

Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.

Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K.

Mol Genet Metab. 2015 May 12. pii: S1096-7192(15)30013-5. doi: 10.1016/j.ymgme.2015.05.006. [Epub ahead of print]

PMID:
25982064
3.

Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.

Kosnik-Infinger L, Gendron C, Gordon CB, Pan BS, van Aalst JA, Vogel TW.

Neurosurg Focus. 2015 May;38(5):E10. doi: 10.3171/2015.2.FOCUS14847.

PMID:
25929963
4.

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S.

Bone. 2015 Jun;75:229-39. doi: 10.1016/j.bone.2015.02.022. Epub 2015 Feb 27.

PMID:
25731960
5.

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.

PMID:
25023282
6.

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B.

Eur J Hum Genet. 2014 Oct;22(10):1160-4. doi: 10.1038/ejhg.2014.10. Epub 2014 Feb 26.

PMID:
24569605
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. doi: CliCa1402233239. Review. Japanese.

PMID:
24473356
8.

Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach.

Brandt G.

Anthropol Anz. 2013;70(3):249-60.

PMID:
24466636
9.

[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
10.

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.

Arch Dis Child. 2014 Mar;99(3):211-5. doi: 10.1136/archdischild-2013-305037. Epub 2013 Nov 25.

PMID:
24276437
11.

Benign prenatal hypophosphatasia: a treatable disease not to be missed.

Matsushita M, Kitoh H, Michigami T, Tachikawa K, Ishiguro N.

Pediatr Radiol. 2014 Mar;44(3):340-3. doi: 10.1007/s00247-013-2805-z. Epub 2013 Oct 22.

PMID:
24145968
12.

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters.

Guañabens N, Mumm S, Möller I, González-Roca E, Peris P, Demertzis JL, Whyte MP.

J Bone Miner Res. 2014 Apr;29(4):929-34. doi: 10.1002/jbmr.2110.

PMID:
24123110
13.

[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].

Ma MY, Li H, Cai YS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):582-4. doi: 10.3760/cma.j.issn.1003-9406.2013.05.016. Chinese.

PMID:
24078575
14.

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.

PMID:
24022022
15.

Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.

Nakamura-Utsunomiya A, Okada S, Hara K, Miyagawa S, Takeda K, Fukuhara R, Nakata Y, Hayashidani M, Tachikawa K, Michigami T, Ozono K, Kobayashi M.

Clin Pediatr Endocrinol. 2010 Jan;19(1):7-13. doi: 10.1297/cpe.19.7. Epub 2010 Mar 11.

16.

Hypophosphatasia.

Rockman-Greenberg C.

Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:380-8. Review.

PMID:
23858621
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.

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.

Sultana S, Al-Shawafi HA, Makita S, Sohda M, Amizuka N, Takagi R, Oda K.

Mol Genet Metab. 2013 Jul;109(3):282-8. doi: 10.1016/j.ymgme.2013.04.016. Epub 2013 Apr 30.

PMID:
23688511
19.

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

Leung EC, Mhanni AA, Reed M, Whyte MP, Landy H, Greenberg CR.

JIMD Rep. 2013;11:73-8. doi: 10.1007/8904_2013_224. Epub 2013 Apr 12.

20.

Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.

Zhu T, Gan YH, Liu H.

Chin J Dent Res. 2012;15(2):99-104.

PMID:
23509830
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