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  • 1
    Online Resource
    Online Resource
    Milano : Springer
    Keywords: Medizin ; Diagnosis, Ultrasonic ; Human genetics ; Maternal and infant welfare ; Medicine ; Obstetrics
    Type of Medium: Online Resource
    Pages: 1 Online-Ressource , Illustrationen, Diagramme
    Edition: 2a ed.aggiornata e ampliata
    ISBN: 9788847006881
    Language: Italian
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  • 2
    ISSN: 1435-232X
    Keywords: Key words Mesomelic dysplasia Kantaputra type ; CA-repeat marker ; Linkage analysis ; Logarithm of odds (lod) score ; Haplotype analysis ; Human HOXD genes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mesomelic dysplasia Kantaputra type (MDK) (MIM *156232) is a new autosomal dominant skeletal dysplasia characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation. We studied a Thai family in which 15 members in 3 generations were affected with MDK. With reference to the breakpoints of a balanced translocation [t(2;8)(q31;p21)] in patients from a previously reported Italian family with a skeletal dysplasia that appears similar to MDK, a linkage analysis was performed in the Thai family using 50 CA-repeat markers mapped to nearby regions (2q22-q34 and 8p24-p21) of the translocation breakpoints. The results clearly ruled out a linkage of MDK to marker loci at the 8p24-p21 region, whereas all nine affected members available for the study shared a haplotype at four loci (D2S2284, D2S326, D2S2188, and D2S2314) spanning about 22.7 cM in the 2q24-q32 region. The computer-assisted two-point linkage analysis revealed maximum logarithm of odds (lod) scores of 4.82, 4.21, 4.82, and 4.21 (θ = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 20 (1970), S. 292-295 
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Das Auftreten von Thalassämie und anderen Hämoglobinopathien entspricht in Campania jeweils 6 und 1%. Diese Tatsache beweist, daß es in Campania mehr als 300 000 Personen mit Hämoglobinopathien gibt. Die Thalassämie ist in all ihren Variationen vertreten, und ihr wechselseitiges Auftreten ergibt folgendes Bild: die klassische Beta-Thalassämie 88%; die Thalassämie mit erhöhtem Hb A2 und F 5%; Alpha-Thalassämie 3%; Thalassämie mit nur erhöhtem Hb A2 2%; Beta-delta-Thalassämie 1%. Die Autoren fanden auch bei 180 Fällen andere Hämoglobinopathien, wie: Hb S, Lepore, D, C, Barts, Caserta, erbbedingtes Vorkommen von Hb F und zwei Hb J-Arten. Die am häufigsten auftretenden sind Hb S und Hb Lehore, jeweils in 90 und 49 Fällen. Die Hb Caserta stellt einen neuen Typus der Hämoglobinopathien dar. Außerdem konnten die Autoren Beobachtungen machen, wie: die nicht tödlich verlaufende Homozygosis bei der Alpha-Thalassämie, die Homozygosis bei erhöhtem Hb A2 ohne Mikrozythämie, die Homozygosis bei Hb Lepore, die doppelte Heterozygosis bei Hb Lepore und Beta-Delta-Thalassämie.
    Notes: Summary The incidence of thalassemia and other haemoglobinopathies in Campania correspond almost to 6% and 1% respectively. This fact signify that in Campania there are more than 300 thousand persons with haemoglobinopathies. The thalassemia is present in all its variants and the reciprocal frequency resulted as follow: classical β th 88%; th with increase of both Hb A2 and F 5%; α th 3%; th with isolated increase of Hb A2 2%; β δ th 1%. The authors have also fined 180 cases of other hemoglobinopathies namely: Hb S, Lepore, D, C, Bart's, Caserta, Hereditary Persistance of Hb F, and two varieties of Hb J. The most numerous of these are Hb S and Hb Lepore, respectively 90 and 49 cases. The Hb Caserta represents a new type of hemoglobinopathy. Moreover the authors pointed out their observations on new forms of hemoglobinopathic diseases viz:. the non letal homozygosity for alpha thalassemia, the homzygosity for elevated Hb A2 without microcythemia, the homozygosity for Hb Lepore, the double heterozygosity for Hb Lepore and β δ thalassemia.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 28 (1974), S. 327-336 
    ISSN: 1432-0584
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Ausgehend von ihrer sehr umfangreichen Erfahrung (50 Familien mit 131 Trägern oder anämischen Angehörigen) stellen die Autoren das gegenwärtige Vorkommen des Hb Lepore auf der Welt dar, wobei besonders auf das Gebiet von Campania verwiesen wird. Heute kennt man acht genotype Erscheinungsformen des Hb Lepore, nämlich: mischerbig, gleicherbig, doppelte Mischerbigkeit des Hb Lepore sowie β-Thalassämie, βσ-Thalassämie, Hb S, Hb C oder Hb Peterborough. Alle diese Erscheinungsformen mit Ausnahme der doppelten Mischerbigkeit von Hb Lepore/Hb C und Hb Lepore/Hb Peterborough kommen in Campania vor- und dies nicht sehr selten. Die autoren beschreiben die Hämoglobinstruktur jeder dieser Erscheinungsformen des Hb Lepore. Letztlich weisen die Autoren auf die klinischen, sozialen und prophylaktischen Probleme hin, die sich aus den verschiedenen Möglichkeiten der Wechselwirkung ergeben, insbesondere zwischen Hb Lepore und Hb S und β-Thalassämie.
    Notes: Summary On the basis of their very large experience (50 families with 131 carriers or anemic people) the Authors illustrate the present status of Hb lepore in the world with particular reference to the Campania region. Today eight genotypics conditions for Hb Lepore are known, namely: heterozygous, homozygous, double heterozygosity for Hb Lepore and β-thalassemia, βσ-thalassemia, Hb S, Hb C, Hb Peterborough, respectively. All these conditions, but the double heterozygosity Hb Lepore/Hb C and Hb Lepore/Hb Peterborough, are present, and not very rarely, in Campania. The Authors describe the hemoglobin pattern of each of these type of Hb Lepore condition. Finally they point out the clinical, social and prophylactic problems which derive from the various possibilities of interaction, and chiefly between Hb Lepore and Hb S and β-thalassemia.
    Type of Medium: Electronic Resource
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