Turner syndrome and haploinsufficiency
Identifieur interne : 003898 ( Istex/Checkpoint ); précédent : 003897; suivant : 003899Turner syndrome and haploinsufficiency
Auteurs : Andrew R. Zinn [États-Unis] ; Judith L. Ross [États-Unis]Source :
- Current Opinion in Genetics & Development [ 0959-437X ] ; 1998.
Abstract
Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.
Url:
DOI: 10.1016/S0959-437X(98)80089-0
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
ISTEX:03836DA9A352B16DF09FB0AE189FE74963B9B8D1Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Turner syndrome and haploinsufficiency</title><author><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R" last="Zinn">Andrew R. Zinn</name></author><author><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L" last="Ross">Judith L. Ross</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:03836DA9A352B16DF09FB0AE189FE74963B9B8D1</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1016/S0959-437X(98)80089-0</idno><idno type="url">https://api.istex.fr/document/03836DA9A352B16DF09FB0AE189FE74963B9B8D1/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000168</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000168</idno><idno type="wicri:Area/Istex/Curation">000168</idno><idno type="wicri:Area/Istex/Checkpoint">003898</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003898</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Turner syndrome and haploinsufficiency</title><author><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R" last="Zinn">Andrew R. Zinn</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>The University of Texas Southwestern Medical School, 6000 Harry Hines Boulevard, Dallas, Texas 75235-8591</wicri:regionArea><wicri:noRegion>Texas 75235-8591</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author><author><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L" last="Ross">Judith L. Ross</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Thomas Jefferson University Medical College, 1025 Walnut Street, Suite 727, Philadelphia, Pennsylvania 19107-5083</wicri:regionArea><wicri:noRegion>Pennsylvania 19107-5083</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Current Opinion in Genetics & Development</title><title level="j" type="abbrev">COGEDE</title><idno type="ISSN">0959-437X</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">8</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="322">322</biblScope><biblScope unit="page" to="327">327</biblScope></imprint><idno type="ISSN">0959-437X</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0959-437X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R" last="Zinn">Andrew R. Zinn</name></noRegion><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L" last="Ross">Judith L. Ross</name><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L" last="Ross">Judith L. Ross</name><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R" last="Zinn">Andrew R. Zinn</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003898 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Checkpoint/biblio.hfd -nk 003898 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Checkpoint
|type= RBID
|clé= ISTEX:03836DA9A352B16DF09FB0AE189FE74963B9B8D1
|texte= Turner syndrome and haploinsufficiency
}}
| This area was generated with Dilib version V0.6.31. |  |