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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2010-8-3
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pubmed:abstractText |
We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1098-4275
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
126
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
e391-400
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pubmed:meshHeading |
pubmed-meshheading:20643727-Chromosome Aberrations,
pubmed-meshheading:20643727-Craniosynostoses,
pubmed-meshheading:20643727-Cytogenetic Analysis,
pubmed-meshheading:20643727-Exons,
pubmed-meshheading:20643727-Genetic Diseases, Inborn,
pubmed-meshheading:20643727-Humans,
pubmed-meshheading:20643727-Infant,
pubmed-meshheading:20643727-Infant, Newborn,
pubmed-meshheading:20643727-Molecular Biology,
pubmed-meshheading:20643727-Neurosurgical Procedures,
pubmed-meshheading:20643727-Point Mutation,
pubmed-meshheading:20643727-Prevalence,
pubmed-meshheading:20643727-Receptor, Fibroblast Growth Factor, Type 3,
pubmed-meshheading:20643727-Reconstructive Surgical Procedures,
pubmed-meshheading:20643727-Signal Transduction
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pubmed:year |
2010
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pubmed:articleTitle |
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
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pubmed:affiliation |
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK. awilkie@hammer.imm.ox.ac.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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