LymphedemaV1, Main, Exploration, bibRecord, 00EF21

Noonan syndrome: A review

Identifieur interne : 00EF21 ( Main/Exploration ); précédent : 00EF20; suivant : 00EF22

Noonan syndrome: A review

Auteurs : Heirie M. M. Mendez [Brésil, États-Unis] ; John M. Opitz [États-Unis] ; James F. Reynolds

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1985-07.

RBID : ISTEX:24243F86127A61A7E094DDCB6D73C89CA6A1A05F

Descripteurs français

KwdFr :
- Déficience intellectuelle (génétique), Déficit en facteur XI (génétique), Femelle, Gènes dominants, Génotype, Humains, Hyperthermie maligne (génétique), Hypogonadisme (génétique), Lymphoedème (génétique), Mâle, Pedigree, Phénotype, Sténose de la valve pulmonaire (génétique), Syndrome de Noonan (génétique), Variation génétique.
MESH :
- génétique : Déficience intellectuelle, Déficit en facteur XI, Hyperthermie maligne, Hypogonadisme, Lymphoedème, Sténose de la valve pulmonaire, Syndrome de Noonan.
- Femelle, Gènes dominants, Génotype, Humains, Mâle, Pedigree, Phénotype, Variation génétique.

English descriptors

KwdEn :
- Factor XI Deficiency (genetics), Female, Genes, Dominant, Genetic Variation, Genotype, Humans, Hypogonadism (genetics), Intellectual Disability (genetics), Lymphedema (genetics), Male, Malignant Hyperthermia (genetics), Noonan Syndrome (genetics), Pedigree, Phenotype, Pulmonary Valve Stenosis (genetics).
MESH :
- genetics : Factor XI Deficiency, Hypogonadism, Intellectual Disability, Lymphedema, Malignant Hyperthermia, Noonan Syndrome, Pulmonary Valve Stenosis.
- Female, Genes, Dominant, Genetic Variation, Genotype, Humans, Male, Pedigree, Phenotype.

Abstract

After an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves especial attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual‐motor disabilities, and endocrine evaluation) are also described.

Url:

https://api.istex.fr/document/24243F86127A61A7E094DDCB6D73C89CA6A1A05F/fulltext/pdf

DOI: 10.1002/ajmg.1320210312

Affiliations:

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Noonan syndrome: A review</title>
<author><name sortKey="Mendez, Heirie M M" sort="Mendez, Heirie M M" uniqKey="Mendez H" first="Heirie M. M." last="Mendez">Heirie M. M. Mendez</name>
</author>
<author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
</author>
<author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:24243F86127A61A7E094DDCB6D73C89CA6A1A05F</idno>
<date when="1985" year="1985">1985</date>
<idno type="doi">10.1002/ajmg.1320210312</idno>
<idno type="url">https://api.istex.fr/document/24243F86127A61A7E094DDCB6D73C89CA6A1A05F/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001068</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001068</idno>
<idno type="wicri:Area/Istex/Curation">001068</idno>
<idno type="wicri:Area/Istex/Checkpoint">005F47</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">005F47</idno>
<idno type="wicri:doubleKey">0148-7299:1985:Mendez H:noonan:syndrome:a</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:3895929</idno>
<idno type="wicri:Area/PubMed/Corpus">006774</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006774</idno>
<idno type="wicri:Area/PubMed/Curation">006774</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">006774</idno>
<idno type="wicri:Area/PubMed/Checkpoint">006774</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">006774</idno>
<idno type="wicri:Area/Ncbi/Merge">009B41</idno>
<idno type="wicri:Area/Ncbi/Curation">009B41</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">009B41</idno>
<idno type="wicri:doubleKey">0148-7299:1985:Mendez H:noonan:syndrome:a</idno>
<idno type="wicri:Area/Main/Merge">00FD44</idno>
<idno type="wicri:Area/Main/Curation">00EF21</idno>
<idno type="wicri:Area/Main/Exploration">00EF21</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Noonan syndrome: A review</title>
<author><name sortKey="Mendez, Heirie M M" sort="Mendez, Heirie M M" uniqKey="Mendez H" first="Heirie M. M." last="Mendez">Heirie M. M. Mendez</name>
<affiliation wicri:level="1"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Genetics Unit, Fundação Faculdade Federal de Ciências Médicas de Pôrto Alegre</wicri:regionArea>
<wicri:noRegion>Fundação Faculdade Federal de Ciências Médicas de Pôrto Alegre</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Montana</region>
</placeName>
<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Rua Sarmento Leite 245, 90000 Pôrto Alegre, RS</wicri:regionArea>
<placeName><region type="state">Rio Grande do Sul</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Montana</region>
</placeName>
<wicri:cityArea>Department of Medical Genetics, Shodair Children's Hospital, Helena</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">American Journal of Medical Genetics</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">0148-7299</idno>
<idno type="eISSN">1096-8628</idno>
<imprint><biblScope unit="vol">21</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="493">493</biblScope>
<biblScope unit="page" to="506">506</biblScope>
<biblScope unit="page-count">14</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="1985-07">1985-07</date>
</imprint>
<idno type="ISSN">0148-7299</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0148-7299</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Factor XI Deficiency (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Genetic Variation</term>
<term>Genotype</term>
<term>Humans</term>
<term>Hypogonadism (genetics)</term>
<term>Intellectual Disability (genetics)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Malignant Hyperthermia (genetics)</term>
<term>Noonan Syndrome (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Pulmonary Valve Stenosis (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Déficience intellectuelle (génétique)</term>
<term>Déficit en facteur XI (génétique)</term>
<term>Femelle</term>
<term>Gènes dominants</term>
<term>Génotype</term>
<term>Humains</term>
<term>Hyperthermie maligne (génétique)</term>
<term>Hypogonadisme (génétique)</term>
<term>Lymphoedème (génétique)</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Sténose de la valve pulmonaire (génétique)</term>
<term>Syndrome de Noonan (génétique)</term>
<term>Variation génétique</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Factor XI Deficiency</term>
<term>Hypogonadism</term>
<term>Intellectual Disability</term>
<term>Lymphedema</term>
<term>Malignant Hyperthermia</term>
<term>Noonan Syndrome</term>
<term>Pulmonary Valve Stenosis</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term>
<term>Déficit en facteur XI</term>
<term>Hyperthermie maligne</term>
<term>Hypogonadisme</term>
<term>Lymphoedème</term>
<term>Sténose de la valve pulmonaire</term>
<term>Syndrome de Noonan</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genes, Dominant</term>
<term>Genetic Variation</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Femelle</term>
<term>Gènes dominants</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Variation génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">After an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves especial attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual‐motor disabilities, and endocrine evaluation) are also described.</div>
</front>
</TEI>
<affiliations><list><country><li>Brésil</li>
<li>États-Unis</li>
</country>
<region><li>Montana</li>
<li>Rio Grande do Sul</li>
</region>
</list>
<tree><noCountry><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name>
</noCountry>
<country name="Brésil"><noRegion><name sortKey="Mendez, Heirie M M" sort="Mendez, Heirie M M" uniqKey="Mendez H" first="Heirie M. M." last="Mendez">Heirie M. M. Mendez</name>
</noRegion>
<name sortKey="Mendez, Heirie M M" sort="Mendez, Heirie M M" uniqKey="Mendez H" first="Heirie M. M." last="Mendez">Heirie M. M. Mendez</name>
</country>
<country name="États-Unis"><region name="Montana"><name sortKey="Mendez, Heirie M M" sort="Mendez, Heirie M M" uniqKey="Mendez H" first="Heirie M. M." last="Mendez">Heirie M. M. Mendez</name>
</region>
<name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00EF21 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00EF21 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:24243F86127A61A7E094DDCB6D73C89CA6A1A05F
   |texte=   Noonan syndrome: A review
}}

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

Noonan syndrome: A review

Noonan syndrome: A review

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.