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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. Among authors: le merrer m. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036
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: le merrer m. Prenat Diagn. 2008 Nov;28(11):993-8. doi: 10.1002/pd.2088. Prenat Diagn. 2008. PMID: 18925618
Clinical utility gene card for: hypophosphatasia.
Mornet E, Beck C, Bloch-Zupan A, Girschick H, Le Merrer M. Mornet E, et al. Among authors: le merrer m. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.170. Epub 2010 Oct 27. Eur J Hum Genet. 2011. PMID: 20978533 Free PMC article. No abstract available.
Clinical utility gene card for: hypophosphatasia - update 2013.
Mornet E, Hofmann C, Bloch-Zupan A, Girschick H, Le Merrer M. Mornet E, et al. Among authors: le merrer m. Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.177. Epub 2013 Aug 7. Eur J Hum Genet. 2014. PMID: 23921539 Free PMC article. No abstract available.
Dominant carpotarsal osteochondromatosis.
Maroteaux P, Le Merrer M, Bensahel H, Freisinger P. Maroteaux P, et al. Among authors: le merrer m. J Med Genet. 1993 Aug;30(8):704-6. doi: 10.1136/jmg.30.8.704. J Med Genet. 1993. PMID: 8411062 Free PMC article.
Pachydysostosis of the fibula.
Maroteaux P, Freisinger P, Le Merrer M. Maroteaux P, et al. Among authors: le merrer m. J Bone Joint Surg Br. 1991 Sep;73(5):842-5. doi: 10.1302/0301-620X.73B5.1894679. J Bone Joint Surg Br. 1991. PMID: 1894679
348 results