LymphedemaV1, France, Analysis, bibRecord, 000390

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Identifieur interne : 000390 ( France/Analysis ); précédent : 000389; suivant : 000391

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Auteurs : Caroline Schluth-Bolard [France] ; Damien Sanlaville [France] ; Audrey Labalme [France] ; Marianne Till [France] ; Laurence Michel-Calemard [France] ; Azim Rafat [France] ; Marie-Thérèse Zabot [France] ; Marc Nicolino [France] ; Laurent Guibaud [France] ; Patrick Edery [France]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2009-11.

RBID : ISTEX:D052AD9CB75D7A355A41E8659F6A4F68BD50B141
Url:

https://api.istex.fr/document/D052AD9CB75D7A355A41E8659F6A4F68BD50B141/fulltext/pdf

DOI: 10.1002/ajmg.a.32772

Affiliations:

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

to stream Istex, to step Corpus: 006183
to stream Istex, to step Curation: 006183
to stream Istex, to step Checkpoint: 000C27
to stream Main, to step Merge: 006565
to stream Main, to step Curation: 006487
to stream Main, to step Exploration: 006487
to stream France, to step Extraction: 000390

Links to Exploration step

ISTEX:D052AD9CB75D7A355A41E8659F6A4F68BD50B141

Le document en format XML

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<author><name sortKey="Schluth Olard, Caroline" sort="Schluth Olard, Caroline" uniqKey="Schluth Olard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name>
</author>
<author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
</author>
<author><name sortKey="Labalme, Audrey" sort="Labalme, Audrey" uniqKey="Labalme A" first="Audrey" last="Labalme">Audrey Labalme</name>
</author>
<author><name sortKey="Till, Marianne" sort="Till, Marianne" uniqKey="Till M" first="Marianne" last="Till">Marianne Till</name>
</author>
<author><name sortKey="Michel Alemard, Laurence" sort="Michel Alemard, Laurence" uniqKey="Michel Alemard L" first="Laurence" last="Michel-Calemard">Laurence Michel-Calemard</name>
</author>
<author><name sortKey="Rafat, Azim" sort="Rafat, Azim" uniqKey="Rafat A" first="Azim" last="Rafat">Azim Rafat</name>
</author>
<author><name sortKey="Zabot, Marie Herese" sort="Zabot, Marie Herese" uniqKey="Zabot M" first="Marie-Thérèse" last="Zabot">Marie-Thérèse Zabot</name>
</author>
<author><name sortKey="Nicolino, Marc" sort="Nicolino, Marc" uniqKey="Nicolino M" first="Marc" last="Nicolino">Marc Nicolino</name>
</author>
<author><name sortKey="Guibaud, Laurent" sort="Guibaud, Laurent" uniqKey="Guibaud L" first="Laurent" last="Guibaud">Laurent Guibaud</name>
</author>
<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
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<author><name sortKey="Michel Alemard, Laurence" sort="Michel Alemard, Laurence" uniqKey="Michel Alemard L" first="Laurence" last="Michel-Calemard">Laurence Michel-Calemard</name>
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<wicri:noRegion>Bron Cedex</wicri:noRegion>
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<author><name sortKey="Zabot, Marie Herese" sort="Zabot, Marie Herese" uniqKey="Zabot M" first="Marie-Thérèse" last="Zabot">Marie-Thérèse Zabot</name>
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<author><name sortKey="Nicolino, Marc" sort="Nicolino, Marc" uniqKey="Nicolino M" first="Marc" last="Nicolino">Marc Nicolino</name>
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<author><name sortKey="Guibaud, Laurent" sort="Guibaud, Laurent" uniqKey="Guibaud L" first="Laurent" last="Guibaud">Laurent Guibaud</name>
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<wicri:noRegion>Bron Cedex</wicri:noRegion>
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<author><name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
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<affiliation wicri:level="1"><country xml:lang="fr">France</country>
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<wicri:noRegion>69677 Bron Cedex</wicri:noRegion>
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<series><title level="j" type="main">American Journal of Medical Genetics Part A</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">1552-4825</idno>
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<tree><country name="France"><noRegion><name sortKey="Schluth Olard, Caroline" sort="Schluth Olard, Caroline" uniqKey="Schluth Olard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name>
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<name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
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<name sortKey="Edery, Patrick" sort="Edery, Patrick" uniqKey="Edery P" first="Patrick" last="Edery">Patrick Edery</name>
<name sortKey="Guibaud, Laurent" sort="Guibaud, Laurent" uniqKey="Guibaud L" first="Laurent" last="Guibaud">Laurent Guibaud</name>
<name sortKey="Labalme, Audrey" sort="Labalme, Audrey" uniqKey="Labalme A" first="Audrey" last="Labalme">Audrey Labalme</name>
<name sortKey="Michel Alemard, Laurence" sort="Michel Alemard, Laurence" uniqKey="Michel Alemard L" first="Laurence" last="Michel-Calemard">Laurence Michel-Calemard</name>
<name sortKey="Nicolino, Marc" sort="Nicolino, Marc" uniqKey="Nicolino M" first="Marc" last="Nicolino">Marc Nicolino</name>
<name sortKey="Rafat, Azim" sort="Rafat, Azim" uniqKey="Rafat A" first="Azim" last="Rafat">Azim Rafat</name>
<name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<name sortKey="Schluth Olard, Caroline" sort="Schluth Olard, Caroline" uniqKey="Schluth Olard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name>
<name sortKey="Till, Marianne" sort="Till, Marianne" uniqKey="Till M" first="Marianne" last="Till">Marianne Till</name>
<name sortKey="Zabot, Marie Herese" sort="Zabot, Marie Herese" uniqKey="Zabot M" first="Marie-Thérèse" last="Zabot">Marie-Thérèse Zabot</name>
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</record>

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   |type=    RBID
   |clé=     ISTEX:D052AD9CB75D7A355A41E8659F6A4F68BD50B141
   |texte=   Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype
}}

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Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Source :

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri