Publications by authors named "Agnes Taillandier"

11Publications

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

Eur J Hum Genet 2020 Sep 24. Epub 2020 Sep 24.

Unité de Génétique Constitutionnelle, Service de Biologie, Centre Hospitalier de Versailles, 78150, Le Chesnay, France.

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http://dx.doi.org/10.1038/s41431-020-00732-6DOI Listing
September 2020

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

Ann Hum Genet 2011 May 24;75(3):439-45. Epub 2011 Mar 24.

Unité de Pathologie Cellulaire et Génétique, Paris Ile de France Ouest PRES Universud Paris, France.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00642.xDOI Listing
May 2011

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

Eur J Med Genet 2007 Sep-Oct;50(5):367-78. Epub 2007 Jul 21.

Equipe Structure-Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Université de Versailles-Saint Quentin en Yvelines, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120700076
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http://dx.doi.org/10.1016/j.ejmg.2007.06.005DOI Listing
November 2007

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

Mol Genet Metab 2005 Mar 19;84(3):273-7. Epub 2004 Dec 19.

Equipe Structure-Fonction et Génétique, EA 2493, CHU Paris Ile de France Ouest, Université de Versailles-Saint Quentin en Yvelines, France.

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http://dx.doi.org/10.1016/j.ymgme.2004.11.003DOI Listing
March 2005

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.

Eur J Hum Genet 2002 Oct;10(10):666-8

Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles-Saint Quentin en Yvelines, Versailles, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200857DOI Listing
October 2002