[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Identifieur interne : 006F05 ( PubMed/Corpus ); précédent : 006F04; suivant : 006F06[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Auteurs : J M Emberger ; M. Navarro ; M. Dejean ; P. IzarnSource :
- Journal de genetique humaine [ 0021-7743 ] ; 1979.
English descriptors
- KwdEn :
- MESH :
- genetics : Deafness, Hematologic Diseases, Leukemia, Myeloid, Acute, Leukopenia, Lymphedema.
- Child, Female, Genes, Dominant, Humans, Male, Pedigree, Syndrome.
Abstract
Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.
PubMed: 295075
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pubmed:295075Le document en format XML
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Izarn</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1979">1979</date><idno type="RBID">pubmed:295075</idno><idno type="pmid">295075</idno><idno type="wicri:Area/PubMed/Corpus">006F05</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006F05</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].</title><author><name sortKey="Emberger, J M" sort="Emberger, J M" uniqKey="Emberger J" first="J M" last="Emberger">J M Emberger</name></author><author><name sortKey="Navarro, M" sort="Navarro, M" uniqKey="Navarro M" first="M" last="Navarro">M. Navarro</name></author><author><name sortKey="Dejean, M" sort="Dejean, M" uniqKey="Dejean M" first="M" last="Dejean">M. Dejean</name></author><author><name sortKey="Izarn, P" sort="Izarn, P" uniqKey="Izarn P" first="P" last="Izarn">P. Izarn</name></author></analytic><series><title level="j">Journal de genetique humaine</title><idno type="ISSN">0021-7743</idno><imprint><date when="1979" type="published">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Deafness (genetics)</term><term>Female</term><term>Genes, Dominant</term><term>Hematologic Diseases (genetics)</term><term>Humans</term><term>Leukemia, Myeloid, Acute (genetics)</term><term>Leukopenia (genetics)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Deafness</term><term>Hematologic Diseases</term><term>Leukemia, Myeloid, Acute</term><term>Leukopenia</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">295075</PMID><DateCreated><Year>1980</Year><Month>05</Month><Day>30</Day></DateCreated><DateCompleted><Year>1980</Year><Month>05</Month><Day>30</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0021-7743</ISSN><JournalIssue CitedMedium="Print"><Volume>27</Volume><Issue>3</Issue><PubDate><Year>1979</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Journal de genetique humaine</Title><ISOAbbreviation>J Genet Hum</ISOAbbreviation></Journal><ArticleTitle>[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].</ArticleTitle><Pagination><MedlinePgn>237-45</MedlinePgn></Pagination><Abstract><AbstractText>Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Emberger</LastName><ForeName>J M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Navarro</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Dejean</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Izarn</LastName><ForeName>P</ForeName><Initials>P</Initials></Author></AuthorList><Language>fre</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>Surdi-mutite, lymphoedeme des membres inferieurs et anomalies hematologiques (leucose aigue, cytopenies) a transmission autosomique dominante.</VernacularTitle></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>J Genet Hum</MedlineTA><NlmUniqueID>2983308R</NlmUniqueID><ISSNLinking>0021-7743</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003638" MajorTopicYN="N">Deafness</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006402" MajorTopicYN="N">Hematologic Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015470" MajorTopicYN="N">Leukemia, Myeloid, Acute</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007970" MajorTopicYN="N">Leukopenia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1979</Year><Month>10</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1979</Year><Month>10</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1979</Year><Month>10</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">295075</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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