Mornet E - Search Results

1

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.

Herasse M, Spentchian M, Taillandier A, Keppler-Noreuil K, Fliorito AN, Bergoffen J, Wallerstein R, Muti C, Simon-Bouy B, Mornet E. Herasse M, et al. Among authors: mornet e. J Med Genet. 2003 Aug;40(8):605-9. doi: 10.1136/jmg.40.8.605. J Med Genet. 2003. PMID: 12920074 Free PMC article. No abstract available.

2

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. Among authors: mornet e. Eur J Hum Genet. 2002 Oct;10(10):666-8. doi: 10.1038/sj.ejhg.5200857. Eur J Hum Genet. 2002. PMID: 12357339

3

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

Brun-Heath I, Taillandier A, Serre JL, Mornet E. Brun-Heath I, et al. Among authors: mornet e. Mol Genet Metab. 2005 Mar;84(3):273-7. doi: 10.1016/j.ymgme.2004.11.003. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694177

4

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: mornet e. 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

5

A molecular-based estimation of the prevalence of hypophosphatasia in the European population.

Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. Mornet E, et al. Ann Hum Genet. 2011 May;75(3):439-45. doi: 10.1111/j.1469-1809.2011.00642.x. Epub 2011 Mar 24. Ann Hum Genet. 2011. PMID: 21488855

6

Correlations of genotype and phenotype in hypophosphatasia.

Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet E. Zurutuza L, et al. Among authors: mornet e. Hum Mol Genet. 1999 Jun;8(6):1039-46. doi: 10.1093/hmg/8.6.1039. Hum Mol Genet. 1999. PMID: 10332035

7

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.

Mornet E, Muller F, Ngo S, Taillandier A, Simon-Bouy B, Maire I, Oury JF. Mornet E, et al. Prenat Diagn. 1999 Aug;19(8):755-7. doi: 10.1002/(sici)1097-0223(199908)19:8<755::aid-pd629>3.0.co;2-#. Prenat Diagn. 1999. PMID: 10451522

8

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. Among authors: mornet e. Hum Genet. 2001 Jul;109(1):99-108. doi: 10.1007/s004390100546. Hum Genet. 2001. PMID: 11479741

9

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E. Spentchian M, et al. Among authors: mornet e. Hum Mutat. 2003 Jul;22(1):105-6. doi: 10.1002/humu.9159. Hum Mutat. 2003. PMID: 12815606

10

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: mornet e. BMC Med Genet. 2009 Jun 6;10:51. doi: 10.1186/1471-2350-10-51. BMC Med Genet. 2009. PMID: 19500388 Free PMC article.

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