DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
Identifieur interne : 000E27 ( Main/Exploration ); précédent : 000E26; suivant : 000E28DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
Auteurs : Pia Winter [Allemagne] ; Christoph Kamm ; Saskia Biskup ; Angelika Köhler ; Barbara Leube ; Georg Auburger ; Thomas Gasser ; Rainer Benecke ; Ulrich MüllerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Chromosome Deletion, Chromosomes, Human, Pair 18 (genetics), Dystonia Musculorum Deformans (genetics), Female, Genetic Linkage (genetics), Genetic Predisposition to Disease, Genetic Testing (methods), Humans, Mutation (genetics), Pedigree, Polymorphism, Single Nucleotide (genetics), Torticollis (genetics).
- MESH :
Abstract
A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.
DOI: 10.1002/mds.25219
PubMed: 23115116
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000B86
- to stream PubMed, to step Curation: 000B86
- to stream PubMed, to step Checkpoint: 000E72
- to stream Ncbi, to step Merge: 003876
- to stream Ncbi, to step Curation: 003876
- to stream Ncbi, to step Checkpoint: 003876
- to stream Main, to step Merge: 000E62
- to stream Main, to step Curation: 000E27
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.</title><author><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Justus Liebig University, Giessen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Justus Liebig University, Giessen</wicri:regionArea><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></author><author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name></author><author><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name></author><author><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25219</idno><idno type="RBID">pubmed:23115116</idno><idno type="pmid">23115116</idno><idno type="wicri:Area/PubMed/Corpus">000B86</idno><idno type="wicri:Area/PubMed/Curation">000B86</idno><idno type="wicri:Area/PubMed/Checkpoint">000E72</idno><idno type="wicri:Area/Ncbi/Merge">003876</idno><idno type="wicri:Area/Ncbi/Curation">003876</idno><idno type="wicri:Area/Ncbi/Checkpoint">003876</idno><idno type="wicri:Area/Main/Merge">000E62</idno><idno type="wicri:Area/Main/Curation">000E27</idno><idno type="wicri:Area/Main/Exploration">000E27</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.</title><author><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Justus Liebig University, Giessen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Justus Liebig University, Giessen</wicri:regionArea><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion><wicri:noRegion>Giessen</wicri:noRegion></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></author><author><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name></author><author><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name></author><author><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name></author><author><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 18 (genetics)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Genetic Linkage (genetics)</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing (methods)</term><term>Humans</term><term>Mutation (genetics)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Torticollis (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 18</term><term>Dystonia Musculorum Deformans</term><term>Genetic Linkage</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Deletion</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A locus implicated in autosomal dominant cervical dystonia was assigned to chromosome 18p in 1 large family more than 15 years ago. This locus was designated DYT7. We reanalyzed the family clinically and genetically.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Auburger, Georg" sort="Auburger, Georg" uniqKey="Auburger G" first="Georg" last="Auburger">Georg Auburger</name><name sortKey="Benecke, Rainer" sort="Benecke, Rainer" uniqKey="Benecke R" first="Rainer" last="Benecke">Rainer Benecke</name><name sortKey="Biskup, Saskia" sort="Biskup, Saskia" uniqKey="Biskup S" first="Saskia" last="Biskup">Saskia Biskup</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><name sortKey="Kohler, Angelika" sort="Kohler, Angelika" uniqKey="Kohler A" first="Angelika" last="Köhler">Angelika Köhler</name><name sortKey="Leube, Barbara" sort="Leube, Barbara" uniqKey="Leube B" first="Barbara" last="Leube">Barbara Leube</name><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Winter, Pia" sort="Winter, Pia" uniqKey="Winter P" first="Pia" last="Winter">Pia Winter</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000E27 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000E27 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:23115116
|texte= DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23115116" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |