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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 653-655 
    ISSN: 1432-1076
    Keywords: Key words Gonadal dysgenesis ; Gonadoblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 46,XY gonadal dysgenesis was diagnosed in a 5.5-year-old phenotypically female patient who had physical and somatic stigmata of Turner syndrome such as webbed neck, low hairline, widely spaced nipples, cubitus valgus and coarctation of the aorta. Bilateral streak gonads were removed and an unsuspected gonadoblastoma was found in right gonad. Conclusion The prepubertal development of gonadal neoplasm in patient with XY gonadal dysgenesis indicates the necessity of gonadectomy at the time of diagnosis.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 614-616 
    ISSN: 1432-1076
    Keywords: Key words Congenital hypothyroidism ; Neonatal ; screening ; Thyroid stimulating hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A pilot study was performed to determine the incidence of congenital hypothyroidism (CH) in Turkey and to build a model for nationwide screening. From December 1991 to December 1992, 30097 newborns were screened for CH using a primary measurement of thyroid stimulating hormone in capillary blood on days 3–5 of life. Samples were obtained in collaboration with the ongoing nationwide phenylketonuria screening programme. Eleven cases of primary CH were detected giving the incidence of 1:2736. Recall rate was 2.3%. Replacement therapy with l-thyroxine was started after the confirmation of diagnosis. The median age at the initiation of replacement therapy was 23 days (range 7–35 days). Conclusion The incidence of CH is notably higher in Turkey than reported in most other countries. Iodine deficiency and/or dyshormonogenesis might contribute to this high incidence. This result emphasizes the necessity of a nationwide screening programme.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 653-655 
    ISSN: 1432-1076
    Keywords: gonadal dysgenesis ; Gonadoblastoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 46,XY gonadal dysgenesis was diagnosed in a 5.5-year-old phenotypically female patient who had physical and somatic stigmata of Turner syndrome such as webbed neck, low hairline, widely spaced nipples, cubitus valgus and coarctation of the aorta. Bilateral streak gonads were removed and an unsuspected gonadoblastoma was found in right gonad.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Theoretical and applied genetics 101 (2000), S. 203-210 
    ISSN: 1432-2242
    Keywords: Key words Brittle rachis ; Weak rachis ; QTL ; Spike density ; Peduncle curvature
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  Head shattering in barley (Hordeum vulgare L.) has two forms; brittle rachis and weak rachis. Brittle rachis is not observed in cultivated barley since all cultivars carry non-brittle alleles at one of the two complementary brittle rachis loci (Btr1;Btr2). Weak rachis causes head shattering in barley cultivars and may be confused with brittle rachis. Brittle rachis has been mapped to the chromosome 3 (3H) short arm while map position(s) of the weak rachis is unknown. Two major and a putative minor QTL for head shattering were mapped using the Steptoe × Morex doubled haploid line population. The largest QTL, designated Hst-3, located on the chromosome 3 (3H) centromeric region, is associated with a major yield QTL. The Steptoe Hst-3 region, when transferred into Morex, resulted in a substantial decrease in head shattering. High-resolution mapping of Hst-3 was achieved using isogenic lines. Brittle rachis was mapped with molecular markers and shown to be located in a different position from that of Hst-3. The second major QTL, designated Hst-2 S, is located on chromosome 2 S. This locus is associated with an environmentally sensitive yield QTL.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 841-842 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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