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rdf:type |
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|
lifeskim:mentions |
|
|
pubmed:issue |
1-2
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pubmed:dateCreated |
1999-2-19
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pubmed:abstractText |
Congenital cardiovascular (c-v) malformations are the leading signs of two syndromes of highly variable phenotypes, the DiGeorge syndrome (DGS) and the velo-cardio-facial syndrome (VCFS), both of which in the majority of cases are caused by microdeletion in the chromosome region 22q11.2. It was the aim of this study to ascertain the frequency of these chromosomal abnormalities in patients with unselected congenital cardiovascular malformation, and to assess the type of c-v malformation for which microdeletion analysis of the mentioned region would be indicated.
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pubmed:language |
ger
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0012-0472
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:day |
8
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pubmed:volume |
124
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
3-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9951451-Adolescent,
pubmed-meshheading:9951451-Adult,
pubmed-meshheading:9951451-Angiography,
pubmed-meshheading:9951451-Child,
pubmed-meshheading:9951451-Child, Preschool,
pubmed-meshheading:9951451-Chromosome Deletion,
pubmed-meshheading:9951451-Chromosomes, Human, Pair 22,
pubmed-meshheading:9951451-Craniofacial Abnormalities,
pubmed-meshheading:9951451-DiGeorge Syndrome,
pubmed-meshheading:9951451-Female,
pubmed-meshheading:9951451-Heart Defects, Congenital,
pubmed-meshheading:9951451-Humans,
pubmed-meshheading:9951451-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9951451-Infant,
pubmed-meshheading:9951451-Infant, Newborn,
pubmed-meshheading:9951451-Karyotyping,
pubmed-meshheading:9951451-Male,
pubmed-meshheading:9951451-Syndrome
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pubmed:year |
1999
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pubmed:articleTitle |
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].
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pubmed:affiliation |
Institut für Humangenetik, Universität Bonn.
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pubmed:publicationType |
Journal Article,
Comparative Study,
English Abstract,
Research Support, Non-U.S. Gov't
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