Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
Identifieur interne : 001596 ( Pmc/Curation ); précédent : 001595; suivant : 001597Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
Auteurs : N. Flanagan ; W J O'Connor ; B. Mccartan ; S. Miller ; J. Mcmenamin ; R. WatsonSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1997.
Abstract
Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in persons with TS compared to controls. These results suggest that examination for the presence or absence of dental enamel pits is not a useful screening test for first degree relatives to detect otherwise unsuspected subjects with tuberous sclerosis. However, the lack of pits in first degree relatives in our study is probably largely because none of the relatives appeared to carry the TS gene.
Url:
PubMed: 9279754
PubMed Central: 1051024
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001596
Links to Exploration step
PMC:1051024Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?</title><author><name sortKey="Flanagan, N" sort="Flanagan, N" uniqKey="Flanagan N" first="N" last="Flanagan">N. Flanagan</name></author><author><name sortKey="O Connor, W J" sort="O Connor, W J" uniqKey="O Connor W" first="W J" last="O'Connor">W J O'Connor</name></author><author><name sortKey="Mccartan, B" sort="Mccartan, B" uniqKey="Mccartan B" first="B" last="Mccartan">B. Mccartan</name></author><author><name sortKey="Miller, S" sort="Miller, S" uniqKey="Miller S" first="S" last="Miller">S. Miller</name></author><author><name sortKey="Mcmenamin, J" sort="Mcmenamin, J" uniqKey="Mcmenamin J" first="J" last="Mcmenamin">J. Mcmenamin</name></author><author><name sortKey="Watson, R" sort="Watson, R" uniqKey="Watson R" first="R" last="Watson">R. Watson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">9279754</idno><idno type="pmc">1051024</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051024</idno><idno type="RBID">PMC:1051024</idno><date when="1997">1997</date><idno type="wicri:Area/Pmc/Corpus">001596</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001596</idno><idno type="wicri:Area/Pmc/Curation">001596</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001596</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?</title><author><name sortKey="Flanagan, N" sort="Flanagan, N" uniqKey="Flanagan N" first="N" last="Flanagan">N. Flanagan</name></author><author><name sortKey="O Connor, W J" sort="O Connor, W J" uniqKey="O Connor W" first="W J" last="O'Connor">W J O'Connor</name></author><author><name sortKey="Mccartan, B" sort="Mccartan, B" uniqKey="Mccartan B" first="B" last="Mccartan">B. Mccartan</name></author><author><name sortKey="Miller, S" sort="Miller, S" uniqKey="Miller S" first="S" last="Miller">S. Miller</name></author><author><name sortKey="Mcmenamin, J" sort="Mcmenamin, J" uniqKey="Mcmenamin J" first="J" last="Mcmenamin">J. Mcmenamin</name></author><author><name sortKey="Watson, R" sort="Watson, R" uniqKey="Watson R" first="R" last="Watson">R. Watson</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></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in persons with TS compared to controls. These results suggest that examination for the presence or absence of dental enamel pits is not a useful screening test for first degree relatives to detect otherwise unsuspected subjects with tuberous sclerosis. However, the lack of pits in first degree relatives in our study is probably largely because none of the relatives appeared to carry the TS gene.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00250-0022-a" xlink:role="638"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">9279754</article-id><article-id pub-id-type="pmc">1051024</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Flanagan</surname><given-names>N</given-names></name></contrib><contrib contrib-type="author"><name><surname>O'Connor</surname><given-names>W J</given-names></name></contrib><contrib contrib-type="author"><name><surname>McCartan</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>S</given-names></name></contrib><contrib contrib-type="author"><name><surname>McMenamin</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Watson</surname><given-names>R</given-names></name></contrib></contrib-group><aff>Department of Dermatology, St James's Hospital, Dublin, Ireland.</aff><pub-date pub-type="ppub"><month>8</month><year>1997</year></pub-date><volume>34</volume><issue>8</issue><fpage>637</fpage><lpage>639</lpage><abstract><p>Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in persons with TS compared to controls. These results suggest that examination for the presence or absence of dental enamel pits is not a useful screening test for first degree relatives to detect otherwise unsuspected subjects with tuberous sclerosis. However, the lack of pits in first degree relatives in our study is probably largely because none of the relatives appeared to carry the TS gene.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00250-0022-a" xlink:role="638"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001596 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 001596 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Pmc
|étape= Curation
|type= RBID
|clé= PMC:1051024
|texte= Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:9279754" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \
| NlmPubMed2Wicri -a EdenteV2
| This area was generated with Dilib version V0.6.32. |  |