Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Identifieur interne : 00BA76 ( Ncbi/Checkpoint ); précédent : 00BA75; suivant : 00BA77Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Auteurs : A A Morris ; J S Sequeira ; M. Malone ; S F Slaney ; P T ClaytonSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1997.
Descripteurs français
- KwdFr :
- Adulte, Cholestase intrahépatique (anatomopathologie), Cholestase intrahépatique (génétique), Cholestase intrahépatique (métabolisme), Cholestase intrahépatique (traitement médicamenteux), Conduits biliaires (malformations), Femelle, Foie (anatomopathologie), Humains, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (métabolisme), Mâle, Nourrisson, Pedigree, Syndrome.
- MESH :
- anatomopathologie : Cholestase intrahépatique, Foie, Lymphoedème.
- génétique : Cholestase intrahépatique, Lymphoedème.
- malformations : Conduits biliaires.
- métabolisme : Cholestase intrahépatique, Lymphoedème.
- traitement médicamenteux : Cholestase intrahépatique.
- Adulte, Femelle, Humains, Mâle, Nourrisson, Pedigree, Syndrome.
English descriptors
- KwdEn :
- Adult, Bile Ducts (abnormalities), Cholestasis, Intrahepatic (drug therapy), Cholestasis, Intrahepatic (genetics), Cholestasis, Intrahepatic (metabolism), Cholestasis, Intrahepatic (pathology), Female, Humans, Infant, Liver (pathology), Lymphedema (genetics), Lymphedema (metabolism), Lymphedema (pathology), Male, Pedigree, Syndrome.
- MESH :
- abnormalities : Bile Ducts.
- drug therapy : Cholestasis, Intrahepatic.
- genetics : Cholestasis, Intrahepatic, Lymphedema.
- metabolism : Cholestasis, Intrahepatic, Lymphedema.
- pathology : Cholestasis, Intrahepatic, Liver, Lymphedema.
- Adult, Female, Humans, Infant, Male, Pedigree, Syndrome.
Abstract
We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.
Url:
PubMed: 9350821
PubMed Central: 1051095
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001900
- to stream Pmc, to step Curation: 001899
- to stream Pmc, to step Checkpoint: 004217
- to stream PubMed, to step Corpus: 004F57
- to stream PubMed, to step Curation: 004F57
- to stream PubMed, to step Checkpoint: 004F57
- to stream Ncbi, to step Merge: 00BA76
- to stream Ncbi, to step Curation: 00BA76
Links to Exploration step
PMC:1051095Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).</title><author><name sortKey="Morris, A A" sort="Morris, A A" uniqKey="Morris A" first="A A" last="Morris">A A Morris</name></author><author><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name></author><author><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name></author><author><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name></author><author><name sortKey="Clayton, P T" sort="Clayton, P T" uniqKey="Clayton P" first="P T" last="Clayton">P T Clayton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">9350821</idno><idno type="pmc">1051095</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051095</idno><idno type="RBID">PMC:1051095</idno><date when="1997">1997</date><idno type="wicri:Area/Pmc/Corpus">001900</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001900</idno><idno type="wicri:Area/Pmc/Curation">001899</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001899</idno><idno type="wicri:Area/Pmc/Checkpoint">004217</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">004217</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">004F57</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004F57</idno><idno type="wicri:Area/PubMed/Curation">004F57</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004F57</idno><idno type="wicri:Area/PubMed/Checkpoint">004F57</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004F57</idno><idno type="wicri:Area/Ncbi/Merge">00BA76</idno><idno type="wicri:Area/Ncbi/Curation">00BA76</idno><idno type="wicri:Area/Ncbi/Checkpoint">00BA76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).</title><author><name sortKey="Morris, A A" sort="Morris, A A" uniqKey="Morris A" first="A A" last="Morris">A A Morris</name></author><author><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name></author><author><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name></author><author><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name></author><author><name sortKey="Clayton, P T" sort="Clayton, P T" uniqKey="Clayton P" first="P T" last="Clayton">P T Clayton</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1997">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Bile Ducts (abnormalities)</term><term>Cholestasis, Intrahepatic (drug therapy)</term><term>Cholestasis, Intrahepatic (genetics)</term><term>Cholestasis, Intrahepatic (metabolism)</term><term>Cholestasis, Intrahepatic (pathology)</term><term>Female</term><term>Humans</term><term>Infant</term><term>Liver (pathology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (metabolism)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Cholestase intrahépatique (anatomopathologie)</term><term>Cholestase intrahépatique (génétique)</term><term>Cholestase intrahépatique (métabolisme)</term><term>Cholestase intrahépatique (traitement médicamenteux)</term><term>Conduits biliaires (malformations)</term><term>Femelle</term><term>Foie (anatomopathologie)</term><term>Humains</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (métabolisme)</term><term>Mâle</term><term>Nourrisson</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bile Ducts</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cholestase intrahépatique</term><term>Foie</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Cholestasis, Intrahepatic</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis, Intrahepatic</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase intrahépatique</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Conduits biliaires</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cholestasis, Intrahepatic</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Cholestase intrahépatique</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cholestasis, Intrahepatic</term><term>Liver</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Cholestase intrahépatique</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00252-0060-a" xlink:role="852"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00252-0060-b" xlink:role="852"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00252-0061-a" xlink:role="853"></graphic></fig></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Clayton, P T" sort="Clayton, P T" uniqKey="Clayton P" first="P T" last="Clayton">P T Clayton</name><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name><name sortKey="Morris, A A" sort="Morris, A A" uniqKey="Morris A" first="A A" last="Morris">A A Morris</name><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00BA76 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 00BA76 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= PMC:1051095
|texte= Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:9350821" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |