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  • 1985-1989  (2)
  • AγT-globin gene  (1)
  • Neonatal mass screening  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 147 (1988), S. 536-538 
    ISSN: 1432-1076
    Schlagwort(e): Pseudohypoparathyroidism ; Hypothyroidism ; Neonatal mass screening ; Bone age
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A girl with type 1a pseudohypoparathyroidism (PHP) presented several hormonal abnormalities. Although she had eluded neonatal thyroid screening, she was diagnosed as having hypothyroidism at the age of 5 months. Thereafter, a diagnosis of PHP was made on the basis of skeletal features of Albright osteodystrophy and lack of both cyclic adenosine monophosphate (c-AMP) and phosphaturic responses after parathyroid hormone (PTH) infusion. The basal levels of luteinizing hormone (LH) and follicle stimulating hormone (FSH) were higher than normal and showed exaggerated responses to luteinizing hormone-releasing hormone (LH-RH). There was no growth hormone (GH) response to arginine infusion, and the prolactin (PRL) response after thyrotropin-releasing hormone (TRH) infusion was also impaired. The stimulating guanine nucleotide-binding protein (Ns) activity of the erythrocytes was reduced to 66.9%. The skeletal age was not delayed at the age of 5 months in spite of the hypothyroid state, and it advanced following thyroxine and vitamin D treatments.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Biochemical genetics 25 (1987), S. 197-203 
    ISSN: 1573-4927
    Schlagwort(e): DNA ; polymorphism ; β-globin gene cluster ; Japanese ; AγT-globin gene
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Chemie und Pharmazie
    Notizen: Abstract DNA polymorphism patterns linked to the βA-globin gene were analyzed in healthy Japanese using four different restriction endonucleases. The chromosomes with the βA-globin gene were mapped through an evaluation of the presence of seven different restriction sites (HincII 5′ to ε; HindIII in Gγ and Aγ; HincII in, and 3′ to, ψβ1; AvaII in β; Bam-HI 3′ to β). Among 36 chromosomes analyzed, 20 chromosomes had a haplotype of [+−−−−−+]. Among 55 individuals examined, 7 possessed a homozygous haplotye of [+−−−−−+]. All Japanese with the AγT-globin gene had a subhaplotype of [−++−+] 5′ to the δ-globin gene. Their major haplotypes were [−++−+−+] and [−++−++−]. It was expected that the presence of the AγT-globin gene in Japanese may be deduced from subhaplotypes 5′ to the δ-globin gene.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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