Serveur d'exploration sur le lymphœdème

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.

Identifieur interne : 006341 ( Main/Exploration ); précédent : 006340; suivant : 006342

Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.

Auteurs : C. Bellini [Italie] ; M H Witte ; C. Campisi ; E. Bonioli ; F. Boccardo

Source :

RBID : pubmed:19499766

Descripteurs français

English descriptors

Abstract

Diagnosing congenital lymphatic dysplasia and counseling the parents of babies with possible genetic conditions represents a difficult task. This article attempts to provide a guide to establishing genetic tools and a reference library for use in the diagnostic work-up of congenital lymphatic diseases. The tools that are outlined herein are not meant to replace genetic counseling; their role is merely to facilitate the interaction between lymphologist and geneticist. These tools are a way of identifying lymphatic dysplasias at a very early stage.

PubMed: 19499766


Affiliations:


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


Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.</title>
<author>
<name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C" last="Bellini">C. Bellini</name>
<affiliation wicri:level="1">
<nlm:affiliation>Neuromuscular Diseases Unit, Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy. carlobellini@ospedale-gaslini.ge.it</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa</wicri:regionArea>
<wicri:noRegion>Genoa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M H" last="Witte">M H Witte</name>
</author>
<author>
<name sortKey="Campisi, C" sort="Campisi, C" uniqKey="Campisi C" first="C" last="Campisi">C. Campisi</name>
</author>
<author>
<name sortKey="Bonioli, E" sort="Bonioli, E" uniqKey="Bonioli E" first="E" last="Bonioli">E. Bonioli</name>
</author>
<author>
<name sortKey="Boccardo, F" sort="Boccardo, F" uniqKey="Boccardo F" first="F" last="Boccardo">F. Boccardo</name>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="2009">2009</date>
<idno type="RBID">pubmed:19499766</idno>
<idno type="pmid">19499766</idno>
<idno type="wicri:Area/PubMed/Corpus">002E41</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002E41</idno>
<idno type="wicri:Area/PubMed/Curation">002E41</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002E41</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002E41</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002E41</idno>
<idno type="wicri:Area/Ncbi/Merge">003446</idno>
<idno type="wicri:Area/Ncbi/Curation">003446</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003446</idno>
<idno type="wicri:doubleKey">0024-7766:2009:Bellini C:congenital:lymphatic:dysplasias</idno>
<idno type="wicri:Area/Main/Merge">006417</idno>
<idno type="wicri:Area/Main/Curation">006341</idno>
<idno type="wicri:Area/Main/Exploration">006341</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.</title>
<author>
<name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C" last="Bellini">C. Bellini</name>
<affiliation wicri:level="1">
<nlm:affiliation>Neuromuscular Diseases Unit, Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa, Italy. carlobellini@ospedale-gaslini.ge.it</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuromuscular Diseases Unit, Department of Pediatrics, University of Genoa, G. Gaslini Institute, Genoa</wicri:regionArea>
<wicri:noRegion>Genoa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M H" last="Witte">M H Witte</name>
</author>
<author>
<name sortKey="Campisi, C" sort="Campisi, C" uniqKey="Campisi C" first="C" last="Campisi">C. Campisi</name>
</author>
<author>
<name sortKey="Bonioli, E" sort="Bonioli, E" uniqKey="Bonioli E" first="E" last="Bonioli">E. Bonioli</name>
</author>
<author>
<name sortKey="Boccardo, F" sort="Boccardo, F" uniqKey="Boccardo F" first="F" last="Boccardo">F. Boccardo</name>
</author>
</analytic>
<series>
<title level="j">Lymphology</title>
<idno type="ISSN">0024-7766</idno>
<imprint>
<date when="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Databases, Genetic</term>
<term>Humans</term>
<term>Internet</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Textbooks as Topic</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Bases de données génétiques</term>
<term>Humains</term>
<term>Internet</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (génétique)</term>
<term>Manuels scolaires comme sujet</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr">
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en">
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en">
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Databases, Genetic</term>
<term>Humans</term>
<term>Internet</term>
<term>Textbooks as Topic</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Bases de données génétiques</term>
<term>Humains</term>
<term>Internet</term>
<term>Lymphoedème</term>
<term>Manuels scolaires comme sujet</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Diagnosing congenital lymphatic dysplasia and counseling the parents of babies with possible genetic conditions represents a difficult task. This article attempts to provide a guide to establishing genetic tools and a reference library for use in the diagnostic work-up of congenital lymphatic diseases. The tools that are outlined herein are not meant to replace genetic counseling; their role is merely to facilitate the interaction between lymphologist and geneticist. These tools are a way of identifying lymphatic dysplasias at a very early stage.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Italie</li>
</country>
</list>
<tree>
<noCountry>
<name sortKey="Boccardo, F" sort="Boccardo, F" uniqKey="Boccardo F" first="F" last="Boccardo">F. Boccardo</name>
<name sortKey="Bonioli, E" sort="Bonioli, E" uniqKey="Bonioli E" first="E" last="Bonioli">E. Bonioli</name>
<name sortKey="Campisi, C" sort="Campisi, C" uniqKey="Campisi C" first="C" last="Campisi">C. Campisi</name>
<name sortKey="Witte, M H" sort="Witte, M H" uniqKey="Witte M" first="M H" last="Witte">M H Witte</name>
</noCountry>
<country name="Italie">
<noRegion>
<name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C" last="Bellini">C. Bellini</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006341 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 006341 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     pubmed:19499766
   |texte=   Congenital lymphatic dysplasias: genetics review and resources for the lymphologist.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:19499766" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1 

Wicri

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024