Lia-Baldini AS - Search Results

1

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization.

Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Ménez A, Le Du MH. Mornet E, et al. Among authors: lia baldini as. J Biol Chem. 2001 Aug 17;276(33):31171-8. doi: 10.1074/jbc.M102788200. Epub 2001 Jun 6. J Biol Chem. 2001. PMID: 11395499 Free article.

2

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

Brun-Heath I, Lia-Baldini AS, Maillard S, Taillandier A, Utsch B, Nunes ME, Serre JL, Mornet E. Brun-Heath I, et al. Among authors: lia baldini as. Eur J Med Genet. 2007 Sep-Oct;50(5):367-78. doi: 10.1016/j.ejmg.2007.06.005. Epub 2007 Jul 21. Eur J Med Genet. 2007. PMID: 17719863

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. Among authors: lia baldini as. Hum Mutat. 2001;18(1):83-4. doi: 10.1002/humu.1154. Hum Mutat. 2001. PMID: 11438998

4

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

Fauvert D, Brun-Heath I, Lia-Baldini AS, Bellazi L, Taillandier A, Serre JL, de Mazancourt P, Mornet E. Fauvert D, et al. Among authors: lia baldini as. BMC Med Genet. 2009 Jun 6;10:51. doi: 10.1186/1471-2350-10-51. BMC Med Genet. 2009. PMID: 19500388 Free PMC article.

5

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. Lia-Baldini AS, et al. Hum Genet. 2001 Jul;109(1):99-108. doi: 10.1007/s004390100546. Hum Genet. 2001. PMID: 11479741

6

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E. Lia-Baldini AS, et al. Hum Genet. 2008 May;123(4):429-32. doi: 10.1007/s00439-008-0480-1. Epub 2008 Mar 14. Hum Genet. 2008. PMID: 18340466

7

Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability.

Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, Junien C, Gourdon G. Seznec H, et al. Among authors: lia baldini as. Hum Mol Genet. 2000 May 1;9(8):1185-94. doi: 10.1093/hmg/9.8.1185. Hum Mol Genet. 2000. PMID: 10767343

8

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS, Magdelaine C, Nizou A, Airault C, Salles JP, Moulin P, Delemer B, Aitouares M, Funalot B, Sturtz F, Lienhardt-Roussie A. Lia-Baldini AS, et al. Eur J Endocrinol. 2013 Jan 17;168(2):K27-34. doi: 10.1530/EJE-12-0714. Print 2013 Feb. Eur J Endocrinol. 2013. PMID: 23169696

9

Improved agarose gel assay for quantification of growth factor-induced cell motility.

Mousseau Y, Leclers D, Faucher-Durand K, Cook-Moreau J, Lia-Baldini AS, Rigaud M, Sturtz FG. Mousseau Y, et al. Among authors: lia baldini as. Biotechniques. 2007 Oct;43(4):509-16. doi: 10.2144/000112557. Biotechniques. 2007. PMID: 18019343 Free article.

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