The Noonan syndrome. The Nancy experience revisited.
Identifieur interne : 005813 ( PubMed/Curation ); précédent : 005812; suivant : 005814The Noonan syndrome. The Nancy experience revisited.
Auteurs : M. Chery ; C. Philippe ; A M Worms ; S. GilgenkrantzSource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 1993.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Cardiopathies congénitales, Chromosomes humains de la paire 22, Chromosomes humains de la paire 3, Crâne (malformations), Enfant, Enfant d'âge préscolaire, Face (malformations), Femelle, Gènes dominants, Humains, Lymphoedème (génétique), Maladies de la peau (génétique), Mâle, Nourrisson, Os et tissu osseux (malformations), Phénotype, Syndrome de Noonan (anatomopathologie), Syndrome de Noonan (diagnostic), Syndrome de Noonan (génétique), Translocation génétique.
- MESH :
- anatomopathologie : Syndrome de Noonan.
- diagnostic : Syndrome de Noonan.
- génétique : Lymphoedème, Maladies de la peau, Syndrome de Noonan.
- malformations : Crâne, Face, Os et tissu osseux.
- Adolescent, Adulte, Adulte d'âge moyen, Cardiopathies congénitales, Chromosomes humains de la paire 22, Chromosomes humains de la paire 3, Enfant, Enfant d'âge préscolaire, Femelle, Gènes dominants, Humains, Mâle, Nourrisson, Phénotype, Translocation génétique.
English descriptors
- KwdEn :
- Adolescent, Adult, Bone and Bones (abnormalities), Child, Child, Preschool, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 3, Face (abnormalities), Female, Genes, Dominant, Heart Defects, Congenital, Humans, Infant, Lymphedema (genetics), Male, Middle Aged, Noonan Syndrome (diagnosis), Noonan Syndrome (genetics), Noonan Syndrome (pathology), Phenotype, Skin Diseases (genetics), Skull (abnormalities), Translocation, Genetic.
- MESH :
- abnormalities : Bone and Bones, Face, Skull.
- diagnosis : Noonan Syndrome.
- genetics : Lymphedema, Noonan Syndrome, Skin Diseases.
- pathology : Noonan Syndrome.
- Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 3, Female, Genes, Dominant, Heart Defects, Congenital, Humans, Infant, Male, Middle Aged, Phenotype, Translocation, Genetic.
Abstract
67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.
PubMed: 8357561
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M. Chery<affiliation><nlm:affiliation>Laboratoire de Génétique, CHRU Nancy.</nlm:affiliation><wicri:noCountry code="subField">CHRU Nancy</wicri:noCountry></affiliation>Le document en format XML
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Gilgenkrantz</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1993">1993</date><idno type="RBID">pubmed:8357561</idno><idno type="pmid">8357561</idno><idno type="wicri:Area/PubMed/Corpus">005813</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005813</idno><idno type="wicri:Area/PubMed/Curation">005813</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005813</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The Noonan syndrome. The Nancy experience revisited.</title><author><name sortKey="Chery, M" sort="Chery, M" uniqKey="Chery M" first="M" last="Chery">M. Chery</name><affiliation><nlm:affiliation>Laboratoire de Génétique, CHRU Nancy.</nlm:affiliation><wicri:noCountry code="subField">CHRU Nancy</wicri:noCountry></affiliation></author><author><name sortKey="Philippe, C" sort="Philippe, C" uniqKey="Philippe C" first="C" last="Philippe">C. Philippe</name></author><author><name sortKey="Worms, A M" sort="Worms, A M" uniqKey="Worms A" first="A M" last="Worms">A M Worms</name></author><author><name sortKey="Gilgenkrantz, S" sort="Gilgenkrantz, S" uniqKey="Gilgenkrantz S" first="S" last="Gilgenkrantz">S. Gilgenkrantz</name></author></analytic><series><title level="j">Genetic counseling (Geneva, Switzerland)</title><idno type="ISSN">1015-8146</idno><imprint><date when="1993" type="published">1993</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Bone and Bones (abnormalities)</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 22</term><term>Chromosomes, Human, Pair 3</term><term>Face (abnormalities)</term><term>Female</term><term>Genes, Dominant</term><term>Heart Defects, Congenital</term><term>Humans</term><term>Infant</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Noonan Syndrome (diagnosis)</term><term>Noonan Syndrome (genetics)</term><term>Noonan Syndrome (pathology)</term><term>Phenotype</term><term>Skin Diseases (genetics)</term><term>Skull (abnormalities)</term><term>Translocation, Genetic</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Cardiopathies congénitales</term><term>Chromosomes humains de la paire 22</term><term>Chromosomes humains de la paire 3</term><term>Crâne (malformations)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Face (malformations)</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Maladies de la peau (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Os et tissu osseux (malformations)</term><term>Phénotype</term><term>Syndrome de Noonan (anatomopathologie)</term><term>Syndrome de Noonan (diagnostic)</term><term>Syndrome de Noonan (génétique)</term><term>Translocation génétique</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Bone and Bones</term><term>Face</term><term>Skull</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term><term>Noonan Syndrome</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Maladies de la peau</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Crâne</term><term>Face</term><term>Os et tissu osseux</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 22</term><term>Chromosomes, Human, Pair 3</term><term>Female</term><term>Genes, Dominant</term><term>Heart Defects, Congenital</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Translocation, Genetic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Cardiopathies congénitales</term><term>Chromosomes humains de la paire 22</term><term>Chromosomes humains de la paire 3</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term><term>Translocation génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">8357561</PMID><DateCreated><Year>1993</Year><Month>09</Month><Day>28</Day></DateCreated><DateCompleted><Year>1993</Year><Month>09</Month><Day>28</Day></DateCompleted><DateRevised><Year>2006</Year><Month>07</Month><Day>06</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1015-8146</ISSN><JournalIssue CitedMedium="Print"><Volume>4</Volume><Issue>2</Issue><PubDate><Year>1993</Year></PubDate></JournalIssue><Title>Genetic counseling (Geneva, Switzerland)</Title><ISOAbbreviation>Genet. Couns.</ISOAbbreviation></Journal><ArticleTitle>The Noonan syndrome. The Nancy experience revisited.</ArticleTitle><Pagination><MedlinePgn>113-8</MedlinePgn></Pagination><Abstract><AbstractText>67 patients with Noonan syndrome seen over the last 29 years were selected preferentially on cardiac involvement. The cardiac anomalies consisted in the association of dysplastic pulmonary stenosis with asymmetric cardiomyopathy. In one patient, a translocation (3;22) was found. The relationship with cardio-facio-cutaneous syndrome and with the group of phacomatoses is discussed. The familial occurrence (10 families) seems compatible with autosomal dominant inheritance. A gene location on chromosome 22 cannot be excluded.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chery</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratoire de Génétique, CHRU Nancy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Philippe</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Worms</LastName><ForeName>A M</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Gilgenkrantz</LastName><ForeName>S</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Genet Couns</MedlineTA><NlmUniqueID>9015261</NlmUniqueID><ISSNLinking>1015-8146</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001842" MajorTopicYN="N">Bone and Bones</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002892" MajorTopicYN="Y">Chromosomes, Human, Pair 22</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002893" MajorTopicYN="Y">Chromosomes, Human, Pair 3</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005145" MajorTopicYN="N">Face</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006330" MajorTopicYN="Y">Heart Defects, Congenital</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009634" MajorTopicYN="N">Noonan Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012871" MajorTopicYN="N">Skin Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012886" MajorTopicYN="N">Skull</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014178" MajorTopicYN="N">Translocation, Genetic</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1993</Year><Month>1</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1993</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1993</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">8357561</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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