KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Identifieur interne : 000F25 ( Main/Exploration ); précédent : 000F24; suivant : 000F26KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Auteurs : Huan Hu [République populaire de Chine] ; Xueshan Xiao [République populaire de Chine] ; Shiqiang Li [République populaire de Chine] ; Xiaoyun Jia [République populaire de Chine] ; Xiangming Guo [République populaire de Chine] ; Qingjiong Zhang [République populaire de Chine]Source :
- The British journal of ophthalmology [ 1468-2079 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Amorces ADN (), Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Exome (génétique), Femelle, Humains, Kinésine (génétique), Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Rétinopathies (diagnostic), Rétinopathies (génétique), Techniques de génotypage.
- MESH :
- diagnostic : Rétinopathies.
- génétique : Exome, Kinésine, Rétinopathies.
- Adulte, Amorces ADN, Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Femelle, Humains, Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Techniques de génotypage.
English descriptors
- KwdEn :
- Adult, Child, Codon, Nonsense, DNA Mutational Analysis, DNA Primers (chemistry), Exome (genetics), Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Kinesin (genetics), Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction, Retinal Diseases (diagnosis), Retinal Diseases (genetics).
- MESH :
- chemical , chemistry : DNA Primers.
- chemical , genetics : Kinesin.
- chemical : Codon, Nonsense.
- diagnosis : Retinal Diseases.
- genetics : Exome, Retinal Diseases.
- Adult, Child, DNA Mutational Analysis, Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction.
Abstract
To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.
DOI: 10.1136/bjophthalmol-2015-306878
PubMed: 26472404
Affiliations:
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Le document en format XML
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xml:lang="en">KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.</title><author><name sortKey="Hu, Huan" sort="Hu, Huan" uniqKey="Hu H" first="Huan" last="Hu">Huan Hu</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Xiao, Xueshan" sort="Xiao, Xueshan" uniqKey="Xiao X" first="Xueshan" last="Xiao">Xueshan Xiao</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Li, Shiqiang" sort="Li, Shiqiang" uniqKey="Li S" first="Shiqiang" last="Li">Shiqiang Li</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Jia, Xiaoyun" sort="Jia, Xiaoyun" uniqKey="Jia X" first="Xiaoyun" last="Jia">Xiaoyun Jia</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Guo, Xiangming" sort="Guo, Xiangming" uniqKey="Guo X" first="Xiangming" last="Guo">Xiangming Guo</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key 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(génétique)</term><term>Femelle</term><term>Humains</term><term>Kinésine (génétique)</term><term>Mosaïcisme</term><term>Mutation avec décalage du cadre de lecture</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Rétinopathies (diagnostic)</term><term>Rétinopathies (génétique)</term><term>Techniques de génotypage</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA Primers</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Rétinopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exome</term><term>Kinésine</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Fluorescein Angiography</term><term>Frameshift Mutation</term><term>Genotyping Techniques</term><term>Humans</term><term>Male</term><term>Mosaicism</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Amorces ADN</term><term>Analyse de mutations d'ADN</term><term>Angiographie fluorescéinique</term><term>Codon non-sens</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Mosaïcisme</term><term>Mutation avec décalage du cadre de lecture</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Techniques de génotypage</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li></country><region><li>Guangdong</li></region><settlement><li>Jiangmen</li></settlement></list><tree><country name="République populaire de Chine"><region name="Guangdong"><name sortKey="Hu, Huan" sort="Hu, Huan" uniqKey="Hu H" first="Huan" last="Hu">Huan Hu</name></region><name sortKey="Guo, Xiangming" sort="Guo, Xiangming" uniqKey="Guo X" first="Xiangming" last="Guo">Xiangming Guo</name><name sortKey="Jia, Xiaoyun" sort="Jia, Xiaoyun" uniqKey="Jia X" first="Xiaoyun" last="Jia">Xiaoyun Jia</name><name sortKey="Li, Shiqiang" sort="Li, Shiqiang" uniqKey="Li S" first="Shiqiang" last="Li">Shiqiang Li</name><name sortKey="Xiao, Xueshan" sort="Xiao, Xueshan" uniqKey="Xiao X" first="Xueshan" last="Xiao">Xueshan Xiao</name><name sortKey="Zhang, Qingjiong" sort="Zhang, Qingjiong" uniqKey="Zhang Q" first="Qingjiong" last="Zhang">Qingjiong Zhang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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