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  • 1
    Electronic Resource
    Electronic Resource
    A case of cranial meningocele associated with Joubert syndrome (1996)
    Springer
    Child's nervous system 12 (1996), S. 280-282 
    Details
    ISSN: 1433-0350
    Keywords: Joubert syndrome ; Cranial meningocele ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea and apnea, oculomotor abnormalities, and psychomotor retardation. Having experienced one case of this syndrome with associated cranial meningocele, we report the clinical course, MRI features, and surgical findings, and discuss the relevant literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00261812
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A chimeric gene containing the 5′ portion of atp6 is associated with cytoplasmic male-sterility of rice (1990)
    Springer
    Molecular genetics and genomics 224 (1990), S. 10-16 
    Details
    ISSN: 1617-4623
    Keywords: Rice ; ATPase subunit 6 ; Cytoplasmic male-sterility ; Chimeric gene ; Mitochondrial DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Three ATPase subunit 6 (atp6) genes of rice mitochondria were isolated, one from normal and two from cms-Bo male-sterile cytoplasms, in order to determine whether the extra atp6 gene in cms-Bo rice plays a role in cytoplasmic male-sterility (CMS). The nucleotide sequences of all three genes were determined and analysis showed a chimeric atp6 gene (urf-rmc) as well as a normal atp6 gene in cms-Bo cytoplasm, but only the normal atp6 gene in normal cytoplasm. The urf-rmc gene is completely homologous to the normal atp6 gene from at least position − 426 in the 5′ flanking region to position + 511 downstream from the initiation codon ATG; however, the following downstream sequence shows no homology with the normal rice atp6 gene, or any other reported sequence. Introduction of the restorer of fertility gene altered transcription of the urf-rmc gene but not the atp6 gene, indicating participation of the chimeric gene in the expression of CMS. Southern blot analysis showed that the urf-rmc gene was generated by an intramolecular recombination event in mitochondrial DNA, and the homologous recombination point between the atp6 gene and the opposite ancestral sequence was identified as 5′-TTCCCTC-3′.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00259445
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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