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  • 1
    Electronic Resource
    Electronic Resource
    Oculo-facio-cardio-dental (OFCD) syndrome (1998)
    Springer
    Journal of orofacial orthopedics 59 (1998), S. 178-185 
    Details
    ISSN: 1615-6714
    Keywords: Cataract ; Microphthalmia ; Atrial septal defect ; Radiculomegaly ; Open apices dentes ; Katarakt ; Mikrophthalmie ; Vorhofseptumdefekt ; Zahnwurzelmegalie ; Offenes Foramen apicale
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Kombination von fazialer Dysmorphie, kongenitalen Katarakten, Mikrophthalmie, Herzfehler und Zahnwurzelmegalie ist sehr selten. Wir beschreiben ein Mädchen mit Vorhofseptumdefekt, einseitiger kongenitaler Katarakt, einseitiger Mikrophthalmie, verlängerten Schneide-und Eckzahnwurzeln sowie verzögertem Wurzelbildungsabschluß und weiteren Zahnkronenanomalien. Diese Kombination ist als oculo-facio-cardio-dentales (OFCD) Syndrom seit kurzem bekannt geworden.
    Notes: Abstract The association of facial dismorphy, congenital cataracts, microphthalmia, heart disease, and dental radiculomegaly is very rare. We describe a girl with atrial septal defect, unilateral congenital cataract, unilateral microphthalmia, radiculomegaly of incisor and canine teeth with open apices and other dental crown anomalies. This combination of symptoms clearly represents a distinct syndrome and has recently been described as oculo-facio-cardio-dental (OFCD) syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01317179
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 (1996)
    Weinheim : Wiley-Blackwell
    Electrophoresis 17 (1996), S. 1559-1563 
    Details
    ISSN: 0173-0835
    Keywords: Temperature gradient gel electrophoresis ; Denaturing gradient gel electrophoresis ; Neurofibromatosis gene ; Mutation analysis ; Exon skipping ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C→T transition at cDNA nucleotide position 715, a transition at the invariant G of the splice accceptor site in intron 4c (G655-1A), and a transversion at the invariant G of the splice donor site in intron 8 (G1185+1T). Analysis of mRNA revealed the predicted abnormal splice products. While skipping of exon 5 causes a shift in the reading frame with a premature stop codon downstream in the middle of exon 6, skipping of exon 8 leads to an in-frame deletion with the predicted protein product being shortened by 41 amino acids.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150171011
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