Mornet E - Search Results

1

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036

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

A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11 beta-hydroxylase genes defects.

Clot F, Jager M, Simon-Bouy B, Serre JL, Aupetit-Faisant B, Mornet E. Clot F, et al. Among authors: mornet e. Hum Genet. 1994 Sep;94(3):316-7. doi: 10.1007/BF00208293. Hum Genet. 1994. PMID: 8076952 No abstract available.

7

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.

Mornet E, Chateau C, Taillandier A, Simon-Bouy B, Serre JL. Mornet E, et al. Hum Genet. 1996 Apr;97(4):512-5. doi: 10.1007/BF02267077. Hum Genet. 1996. PMID: 8834253

8

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.

Mornet E, Muller F, Lenvoisé-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL. Mornet E, et al. Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544. Hum Genet. 1997. PMID: 9341863

9

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. Among authors: mornet e. 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

10

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

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