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

Identifieur interne : 008805 ( Main/Exploration ); précédent : 008804; suivant : 008806

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

Auteurs : Brigitte Simon-Bouy [France] ; Agnès Taillandier [France] ; Delphine Fauvert [France] ; Isabelle Brun-Heath [France] ; Jean-Louis Serre [France] ; Carmen G. Armengod [Espagne] ; Martin G. Bialer [États-Unis] ; Michèle Mathieu [France] ; Jacques Cousin [France] ; David Chitayat [Canada] ; Jan Liebelt [Australie] ; Barbara Feldman [États-Unis] ; Marion Gérard-Blanluet [France] ; Stefani Körtge-Jung [Allemagne] ; Cath King [Royaume-Uni] ; Hannele Laivuori [Finlande] ; Martine Le Merrer [France] ; Sarju Mehta [Royaume-Uni] ; Christina Jern [Suède] ; Saba Sharif [Royaume-Uni] ; Fabienne Prieur [France] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Andreas Zankl [Australie] ; Etienne Mornet [France]

Source :

RBID : ISTEX:FB22439F680AAB29B5F26FB4160004F6182A373A

Descripteurs français

English descriptors

Abstract

We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP.

Url:
DOI: 10.1002/pd.2088


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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<name sortKey="Feldman, Barbara" sort="Feldman, Barbara" uniqKey="Feldman B" first="Barbara" last="Feldman">Barbara Feldman</name>
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<name sortKey="Gerard Lanluet, Marion" sort="Gerard Lanluet, Marion" uniqKey="Gerard Lanluet M" first="Marion" last="Gérard-Blanluet">Marion Gérard-Blanluet</name>
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<name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name>
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<name sortKey="Laivuori, Hannele" sort="Laivuori, Hannele" uniqKey="Laivuori H" first="Hannele" last="Laivuori">Hannele Laivuori</name>
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<name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
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<name sortKey="Mehta, Sarju" sort="Mehta, Sarju" uniqKey="Mehta S" first="Sarju" last="Mehta">Sarju Mehta</name>
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<name sortKey="Sharif, Saba" sort="Sharif, Saba" uniqKey="Sharif S" first="Saba" last="Sharif">Saba Sharif</name>
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<title level="j" type="main">Prenatal Diagnosis</title>
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<term>Adult hypophosphatasia</term>
<term>Alkaline</term>
<term>Alkaline phosphatase</term>
<term>Autosomal</term>
<term>Autosomal recessive</term>
<term>Biol chem</term>
<term>Clinical genetics</term>
<term>Copyright</term>
<term>Crown domain</term>
<term>Diagn</term>
<term>Fetus</term>
<term>Functional domains</term>
<term>Genet</term>
<term>Genetic counseling</term>
<term>Genetics</term>
<term>Heterozygous mutation</term>
<term>Hypophosphatasia</term>
<term>Index case</term>
<term>John wiley sons</term>
<term>Long bones</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Molecular testing</term>
<term>Mornet</term>
<term>Mutation</term>
<term>Osteochondral spurs</term>
<term>Perinatal</term>
<term>Phosphatase</term>
<term>Prenat</term>
<term>Prenat diagn</term>
<term>Prenatal</term>
<term>Prenatal cases</term>
<term>Prenatal diagnosis</term>
<term>Prenatal signs</term>
<term>Recessive</term>
<term>Spontaneous improvement</term>
<term>Tnsalp</term>
<term>Tnsalp gene</term>
<term>Ultrasound</term>
<term>Ultrasound signs</term>
<term>Utero</term>
<term>Utero presentation</term>
<term>Wenkert</term>
<term>Whyte</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en">
<term>Adult hypophosphatasia</term>
<term>Alkaline</term>
<term>Alkaline phosphatase</term>
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<term>Index case</term>
<term>John wiley sons</term>
<term>Long bones</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Molecular testing</term>
<term>Mornet</term>
<term>Mutation</term>
<term>Osteochondral spurs</term>
<term>Perinatal</term>
<term>Phosphatase</term>
<term>Prenat</term>
<term>Prenat diagn</term>
<term>Prenatal</term>
<term>Prenatal cases</term>
<term>Prenatal diagnosis</term>
<term>Prenatal signs</term>
<term>Recessive</term>
<term>Spontaneous improvement</term>
<term>Tnsalp</term>
<term>Tnsalp gene</term>
<term>Ultrasound</term>
<term>Ultrasound signs</term>
<term>Utero</term>
<term>Utero presentation</term>
<term>Wenkert</term>
<term>Whyte</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Droit d'auteur</term>
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract">We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Canada</li>
<li>Espagne</li>
<li>Finlande</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region>
<li>Angleterre</li>
<li>District de Düsseldorf</li>
<li>Grand Manchester</li>
<li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Ontario</li>
<li>Picardie</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Amiens</li>
<li>Düsseldorf</li>
<li>Lille</li>
<li>Manchester</li>
<li>Paris</li>
<li>Toronto</li>
<li>Versailles</li>
</settlement>
<orgName>
<li>Université de Toronto</li>
</orgName>
</list>
<tree>
<country name="France">
<noRegion>
<name sortKey="Simon Ouy, Brigitte" sort="Simon Ouy, Brigitte" uniqKey="Simon Ouy B" first="Brigitte" last="Simon-Bouy">Brigitte Simon-Bouy</name>
</noRegion>
<name sortKey="Brun Eath, Isabelle" sort="Brun Eath, Isabelle" uniqKey="Brun Eath I" first="Isabelle" last="Brun-Heath">Isabelle Brun-Heath</name>
<name sortKey="Cousin, Jacques" sort="Cousin, Jacques" uniqKey="Cousin J" first="Jacques" last="Cousin">Jacques Cousin</name>
<name sortKey="Fauvert, Delphine" sort="Fauvert, Delphine" uniqKey="Fauvert D" first="Delphine" last="Fauvert">Delphine Fauvert</name>
<name sortKey="Gerard Lanluet, Marion" sort="Gerard Lanluet, Marion" uniqKey="Gerard Lanluet M" first="Marion" last="Gérard-Blanluet">Marion Gérard-Blanluet</name>
<name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michèle" last="Mathieu">Michèle Mathieu</name>
<name sortKey="Mornet, Etienne" sort="Mornet, Etienne" uniqKey="Mornet E" first="Etienne" last="Mornet">Etienne Mornet</name>
<name sortKey="Mornet, Etienne" sort="Mornet, Etienne" uniqKey="Mornet E" first="Etienne" last="Mornet">Etienne Mornet</name>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<name sortKey="Serre, Jean Ouis" sort="Serre, Jean Ouis" uniqKey="Serre J" first="Jean-Louis" last="Serre">Jean-Louis Serre</name>
<name sortKey="Simon Ouy, Brigitte" sort="Simon Ouy, Brigitte" uniqKey="Simon Ouy B" first="Brigitte" last="Simon-Bouy">Brigitte Simon-Bouy</name>
<name sortKey="Taillandier, Agnes" sort="Taillandier, Agnes" uniqKey="Taillandier A" first="Agnès" last="Taillandier">Agnès Taillandier</name>
</country>
<country name="Espagne">
<noRegion>
<name sortKey="Armengod, Carmen G" sort="Armengod, Carmen G" uniqKey="Armengod C" first="Carmen G." last="Armengod">Carmen G. Armengod</name>
</noRegion>
</country>
<country name="États-Unis">
<noRegion>
<name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name>
</noRegion>
<name sortKey="Feldman, Barbara" sort="Feldman, Barbara" uniqKey="Feldman B" first="Barbara" last="Feldman">Barbara Feldman</name>
</country>
<country name="Canada">
<region name="Ontario">
<name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
</region>
</country>
<country name="Australie">
<noRegion>
<name sortKey="Liebelt, Jan" sort="Liebelt, Jan" uniqKey="Liebelt J" first="Jan" last="Liebelt">Jan Liebelt</name>
</noRegion>
<name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
</country>
<country name="Allemagne">
<region name="Rhénanie-du-Nord-Westphalie">
<name sortKey="Kortge Ung, Stefani" sort="Kortge Ung, Stefani" uniqKey="Kortge Ung S" first="Stefani" last="Körtge-Jung">Stefani Körtge-Jung</name>
</region>
<name sortKey="Gillessen Aesbach, Gabriele" sort="Gillessen Aesbach, Gabriele" uniqKey="Gillessen Aesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
</country>
<country name="Royaume-Uni">
<noRegion>
<name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name>
</noRegion>
<name sortKey="Mehta, Sarju" sort="Mehta, Sarju" uniqKey="Mehta S" first="Sarju" last="Mehta">Sarju Mehta</name>
<name sortKey="Sharif, Saba" sort="Sharif, Saba" uniqKey="Sharif S" first="Saba" last="Sharif">Saba Sharif</name>
</country>
<country name="Finlande">
<noRegion>
<name sortKey="Laivuori, Hannele" sort="Laivuori, Hannele" uniqKey="Laivuori H" first="Hannele" last="Laivuori">Hannele Laivuori</name>
</noRegion>
</country>
<country name="Suède">
<noRegion>
<name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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