MovDisordV3, PubMed, Corpus, bibRecord, 003C80

Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.

Identifieur interne : 003C80 ( PubMed/Corpus ); précédent : 003C79; suivant : 003C81

Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.

Auteurs : C. Klein ; G S Stewart ; N P Quinn ; A M Taylor

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.

RBID : pubmed:11481721

English descriptors

KwdEn :
- Ataxia Telangiectasia (diagnosis), Ataxia Telangiectasia (genetics), Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Diagnosis, Differential, Heterozygote Detection, Humans, Male, Protein-Serine-Threonine Kinases (genetics), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Syndrome, Translocation, Genetic (genetics), Tumor Suppressor Proteins.
MESH :
- chemical , genetics : DNA-Binding Proteins, Protein-Serine-Threonine Kinases.
- chemical : Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins, Tumor Suppressor Proteins.
- diagnosis : Ataxia Telangiectasia, Spinocerebellar Degenerations.
- genetics : Ataxia Telangiectasia, Spinocerebellar Degenerations, Translocation, Genetic.
- Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, DNA Mutational Analysis, Diagnosis, Differential, Heterozygote Detection, Humans, Male, Syndrome.

PubMed: 11481721

Links to Exploration step

pubmed:11481721

Le document en format XML

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<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name>
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<author><name sortKey="Stewart, G S" sort="Stewart, G S" uniqKey="Stewart G" first="G S" last="Stewart">G S Stewart</name>
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<author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name>
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<author><name sortKey="Taylor, A M" sort="Taylor, A M" uniqKey="Taylor A" first="A M" last="Taylor">A M Taylor</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.</title>
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<author><name sortKey="Stewart, G S" sort="Stewart, G S" uniqKey="Stewart G" first="G S" last="Stewart">G S Stewart</name>
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<author><name sortKey="Quinn, N P" sort="Quinn, N P" uniqKey="Quinn N" first="N P" last="Quinn">N P Quinn</name>
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<author><name sortKey="Taylor, A M" sort="Taylor, A M" uniqKey="Taylor A" first="A M" last="Taylor">A M Taylor</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Ataxia Telangiectasia (genetics)</term>
<term>Ataxia Telangiectasia Mutated Proteins</term>
<term>Cell Cycle Proteins</term>
<term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 7</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Diagnosis, Differential</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Spinocerebellar Degenerations (diagnosis)</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Syndrome</term>
<term>Translocation, Genetic (genetics)</term>
<term>Tumor Suppressor Proteins</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term>
<term>Protein-Serine-Threonine Kinases</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Ataxia Telangiectasia Mutated Proteins</term>
<term>Cell Cycle Proteins</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia Telangiectasia</term>
<term>Spinocerebellar Degenerations</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia Telangiectasia</term>
<term>Spinocerebellar Degenerations</term>
<term>Translocation, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Chromosomes, Human, Pair 14</term>
<term>Chromosomes, Human, Pair 7</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
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<DateCreated><Year>2001</Year>
<Month>08</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2001</Year>
<Month>10</Month>
<Day>18</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>4</Issue>
<PubDate><Year>2001</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.</ArticleTitle>
<Pagination><MedlinePgn>788-9</MedlinePgn>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Klein</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
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<Author ValidYN="Y"><LastName>Stewart</LastName>
<ForeName>G S</ForeName>
<Initials>GS</Initials>
</Author>
<Author ValidYN="Y"><LastName>Quinn</LastName>
<ForeName>N P</ForeName>
<Initials>NP</Initials>
</Author>
<Author ValidYN="Y"><LastName>Taylor</LastName>
<ForeName>A M</ForeName>
<Initials>AM</Initials>
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<Language>eng</Language>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
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<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D018797">Cell Cycle Proteins</NameOfSubstance>
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<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D004268">DNA-Binding Proteins</NameOfSubstance>
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<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C121766">MRE11A protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
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<Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
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<NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance>
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<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="CommentOn"><RefSource>Mov Disord. 1996 Mar;11(2):217-20</RefSource>
<PMID Version="1">8684395</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001260">Ataxia Telangiectasia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D064007">Ataxia Telangiectasia Mutated Proteins</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018797">Cell Cycle Proteins</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002883">Chromosomes, Human, Pair 14</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002897">Chromosomes, Human, Pair 7</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004268">DNA-Binding Proteins</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006580">Heterozygote Detection</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017346">Protein-Serine-Threonine Kinases</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013132">Spinocerebellar Degenerations</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014178">Translocation, Genetic</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D025521">Tumor Suppressor Proteins</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year>
<Month>8</Month>
<Day>2</Day>
<Hour>10</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2001</Year>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.

Ataxia without telangiectasia revisited: update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.

Source :

English descriptors

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki