Mornet E - Search Results

1

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. Thompson MD, et al. Among authors: mornet e. Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Am J Med Genet A. 2010. PMID: 20578257

2

Severe cleidocranial dysplasia can mimic hypophosphatasia.

Unger S, Mornet E, Mundlos S, Blaser S, Cole DE. Unger S, et al. Among authors: mornet e. Eur J Pediatr. 2002 Nov;161(11):623-6. doi: 10.1007/s00431-002-0978-9. Epub 2002 Jun 28. Eur J Pediatr. 2002. PMID: 12424591

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

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.

6

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre JL, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, Laivuori H, Le Merrer M, Mehta S, Jern C, Sharif S, Prieur F, Gillessen-Kaesbach G, Zankl A, Mornet E. Simon-Bouy B, et al. Among authors: mornet e. Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088. Prenat Diagn. 2008. PMID: 18925618

7

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. Brun-Heath I, et al. Among authors: mornet e. Clin Genet. 2008 Mar;73(3):245-50. doi: 10.1111/j.1399-0004.2007.00902.x. Epub 2007 Oct 7. Clin Genet. 2008. PMID: 17922851

8

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues.

Brun-Heath I, Ermonval M, Chabrol E, Xiao J, Palkovits M, Lyck R, Miller F, Couraud PO, Mornet E, Fonta C. Brun-Heath I, et al. Among authors: mornet e. Cell Tissue Res. 2011 Mar;343(3):521-36. doi: 10.1007/s00441-010-1111-4. Epub 2010 Dec 31. Cell Tissue Res. 2011. PMID: 21191615 Free article.

9

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. Among authors: mornet e. Hum Genet. 2008 May;123(4):429-32. doi: 10.1007/s00439-008-0480-1. Epub 2008 Mar 14. Hum Genet. 2008. PMID: 18340466

10

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

Spentchian M, Brun-Heath I, Taillandier A, Fauvert D, Serre JL, Simon-Bouy B, Carvalho F, Grochova I, Mehta SG, Müller G, Oberstein SL, Ogur G, Sharif S, Mornet E. Spentchian M, et al. Among authors: mornet e. Genet Test. 2006 Winter;10(4):252-7. doi: 10.1089/gte.2006.10.252. Genet Test. 2006. PMID: 17253930

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

132 results

Search Page